Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Name: Work Video:
Duration: 3 min 30 s
Pleasantine Mill; Paul J. Lockhart; Elizabeth Fitzpatrick; Hayley S. Mountford; Emma A. Hall; Martin A.M. Reijns; Margaret Keighren; Melanie Bahlo; Catherine J. Bromhead; Peter S. Budd; Salim Aftimos; Martin B. Delatycki; Ravi Savarirayan; Ian J. Jackson; David J. Amor
{'id': 'https://openalex.org/W2113929186', 'doi': 'https://doi.org/10.1016/j.ajhg.2011.03.015', 'title': 'Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis', 'display_name': 'Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis', 'publication_year': 2011, 'publication_date': '2011-04-01', 'ids': {'openalex': 'https://openalex.org/W2113929186', 'doi': 'https://doi.org/10.1016/j.ajhg.2011.03.015', 'mag': '2113929186', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/21473986', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/3071922'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2011.03.015', 'pdf_url': 'https://www.cell.com/article/S0002929711001078/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'hybrid', 'oa_url': 'https://www.cell.com/article/S0002929711001078/pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5048497534', 'display_name': 'Pleasantine Mill', 'orcid': 'https://orcid.org/0000-0001-5218-134X'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': True, 'raw_author_name': 'Pleasantine Mill', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5003766570', 'display_name': 'Paul J. Lockhart', 'orcid': 'https://orcid.org/0000-0003-2531-8413'}, 'institutions': [{'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}, {'id': 'https://openalex.org/I165779595', 'display_name': 'University of Melbourne', 'ror': 'https://ror.org/01ej9dk98', 'country_code': 'AU', 'type': 'education', 'lineage': ['https://openalex.org/I165779595']}], 'countries': ['AU'], 'is_corresponding': True, 'raw_author_name': 'Paul\xa0J. Lockhart', 'raw_affiliation_strings': ['Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210150290']}, {'raw_affiliation_string': 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I165779595']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5114045883', 'display_name': 'Elizabeth Fitzpatrick', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Elizabeth Fitzpatrick', 'raw_affiliation_strings': ['Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210150290']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5088121056', 'display_name': 'Hayley S. Mountford', 'orcid': 'https://orcid.org/0000-0002-7663-6326'}, 'institutions': [{'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Hayley\xa0S. Mountford', 'raw_affiliation_strings': ['Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210150290']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102924041', 'display_name': 'Emma A. Hall', 'orcid': 'https://orcid.org/0000-0002-6944-6719'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Emma\xa0A. Hall', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002730110', 'display_name': 'Martin A.M. Reijns', 'orcid': 'https://orcid.org/0000-0002-5048-2752'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Martin\xa0A.M. Reijns', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5038462165', 'display_name': 'Margaret Keighren', 'orcid': 'https://orcid.org/0000-0002-8116-9670'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Margaret Keighren', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061764650', 'display_name': 'Melanie Bahlo', 'orcid': 'https://orcid.org/0000-0001-5132-0774'}, 'institutions': [{'id': 'https://openalex.org/I196021976', 'display_name': 'Walter and Eliza Hall Institute of Medical Research', 'ror': 'https://ror.org/01b6kha49', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I196021976']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Melanie Bahlo', 'raw_affiliation_strings': ['Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I196021976']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108237249', 'display_name': 'Catherine J. Bromhead', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I196021976', 'display_name': 'Walter and Eliza Hall Institute of Medical Research', 'ror': 'https://ror.org/01b6kha49', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I196021976']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Catherine\xa0J. Bromhead', 'raw_affiliation_strings': ['Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I196021976']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5004613901', 'display_name': 'Peter S. Budd', 'orcid': 'https://orcid.org/0000-0001-8951-2413'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Peter Budd', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005100592', 'display_name': 'Salim Aftimos', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801418622', 'display_name': 'Auckland City Hospital', 'ror': 'https://ror.org/05e8jge82', 'country_code': 'NZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801418622', 'https://openalex.org/I4210114327']}], 'countries': ['NZ'], 'is_corresponding': False, 'raw_author_name': 'Salim Aftimos', 'raw_affiliation_strings': ['Northern Regional Genetic Services, Auckland Hospital, Auckland 1148, New Zealand'], 'affiliations': [{'raw_affiliation_string': 'Northern Regional Genetic Services, Auckland Hospital, Auckland 1148, New Zealand', 'institution_ids': ['https://openalex.org/I2801418622']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022824964', 'display_name': 'Martin B. Delatycki', 'orcid': 'https://orcid.org/0000-0002-8769-2569'}, 'institutions': [{'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}, {'id': 'https://openalex.org/I4210163497', 'display_name': 'Austin Health', 'ror': 'https://ror.org/05dbj6g52', 'country_code': 'AU', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210163497']}, {'id': 'https://openalex.org/I165779595', 'display_name': 'University of Melbourne', 'ror': 'https://ror.org/01ej9dk98', 'country_code': 'AU', 'type': 'education', 'lineage': ['https://openalex.org/I165779595']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Martin\xa0B. Delatycki', 'raw_affiliation_strings': ['Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'Clinical Genetics, Austin Health, Heidelberg, Victoria 3081, Australia', 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210150290']}, {'raw_affiliation_string': 'Clinical Genetics, Austin Health, Heidelberg, Victoria 3081, Australia', 'institution_ids': ['https://openalex.org/I4210163497']}, {'raw_affiliation_string': 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I165779595']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000857707', 'display_name': 'Ravi Savarirayan', 'orcid': 'https://orcid.org/0000-0002-5105-8427'}, 'institutions': [{'id': 'https://openalex.org/I4210109019', 'display_name': 'Victorian Clinical Genetics Services', 'ror': 'https://ror.org/01mmz5j21', 'country_code': 'AU', 'type': 'facility', 'lineage': ['https://openalex.org/I4210109019', 'https://openalex.org/I4210150290']}, {'id': 'https://openalex.org/I165779595', 'display_name': 'University of Melbourne', 'ror': 'https://ror.org/01ej9dk98', 'country_code': 'AU', 'type': 'education', 'lineage': ['https://openalex.org/I165779595']}, {'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Ravi Savarirayan', 'raw_affiliation_strings': ['Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'Victoria Clinical Genetics Service, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Victoria Clinical Genetics Service, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210109019', 'https://openalex.org/I4210150290']}, {'raw_affiliation_string': 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I165779595']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5070906741', 'display_name': 'Ian J. Jackson', 'orcid': 'https://orcid.org/0000-0001-6526-0688'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I90344618', 'display_name': 'Medical Research Council', 'ror': 'https://ror.org/03x94j517', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I90344618']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Ian\xa0J. Jackson', 'raw_affiliation_strings': ['Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5079377834', 'display_name': 'David J. Amor', 'orcid': 'https://orcid.org/0000-0001-7191-8511'}, 'institutions': [{'id': 'https://openalex.org/I4210150290', 'display_name': "Murdoch Children's Research Institute", 'ror': 'https://ror.org/048fyec77', 'country_code': 'AU', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210150290']}, {'id': 'https://openalex.org/I4210109019', 'display_name': 'Victorian Clinical Genetics Services', 'ror': 'https://ror.org/01mmz5j21', 'country_code': 'AU', 'type': 'facility', 'lineage': ['https://openalex.org/I4210109019', 'https://openalex.org/I4210150290']}, {'id': 'https://openalex.org/I165779595', 'display_name': 'University of Melbourne', 'ror': 'https://ror.org/01ej9dk98', 'country_code': 'AU', 'type': 'education', 'lineage': ['https://openalex.org/I165779595']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'David\xa0J. Amor', 'raw_affiliation_strings': ['Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'Victoria Clinical Genetics Service, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Victoria Clinical Genetics Service, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I4210150290', 'https://openalex.org/I4210109019']}, {'raw_affiliation_string': 'Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia', 'institution_ids': ['https://openalex.org/I165779595']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 8, 'corresponding_author_ids': ['https://openalex.org/A5048497534', 'https://openalex.org/A5003766570'], 'corresponding_institution_ids': ['https://openalex.org/I2800150677', 'https://openalex.org/I90344618', 'https://openalex.org/I4210150290', 'https://openalex.org/I165779595'], 'apc_list': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'apc_paid': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'fwci': 9.24, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 129, 'citation_normalized_percentile': {'value': 0.942367, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '88', 'issue': '4', 'first_page': '508', 'last_page': '515'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11412', 'display_name': 'Genetic and Kidney Cyst Diseases', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11412', 'display_name': 'Genetic and Kidney Cyst Diseases', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12140', 'display_name': 'Renal and related cancers', 'score': 0.9926, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12009', 'display_name': 'Hedgehog Signaling Pathway Studies', 'score': 0.9841, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/ciliogenesis', 'display_name': 'Ciliogenesis', 'score': 0.8719605}, {'id': 'https://openalex.org/keywords/ciliopathies', 'display_name': 'Ciliopathies', 'score': 0.782416}, {'id': 'https://openalex.org/keywords/ciliopathy', 'display_name': 'Ciliopathy', 'score': 0.750762}, {'id': 'https://openalex.org/keywords/intraflagellar-transport', 'display_name': 'Intraflagellar Transport', 'score': 0.5050743}, {'id': 'https://openalex.org/keywords/polydactyly', 'display_name': 'Polydactyly', 'score': 0.47027045}, {'id': 'https://openalex.org/keywords/nonsense-mutation', 'display_name': 'Nonsense mutation', 'score': 0.4106081}], 'concepts': [{'id': 'https://openalex.org/C195267511', 'wikidata': 'https://www.wikidata.org/wiki/Q5119969', 'display_name': 'Ciliogenesis', 'level': 3, 'score': 0.8719605}, {'id': 'https://openalex.org/C100094513', 'wikidata': 'https://www.wikidata.org/wiki/Q180436', 'display_name': 'Cilium', 'level': 2, 'score': 0.8460666}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.80080247}, {'id': 'https://openalex.org/C2910395002', 'wikidata': 'https://www.wikidata.org/wiki/Q203031', 'display_name': 'Ciliopathies', 'level': 4, 'score': 0.782416}, {'id': 'https://openalex.org/C2780561973', 'wikidata': 'https://www.wikidata.org/wiki/Q203031', 'display_name': 'Ciliopathy', 'level': 4, 'score': 0.750762}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.716357}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.5919287}, {'id': 'https://openalex.org/C37590093', 'wikidata': 'https://www.wikidata.org/wiki/Q978456', 'display_name': 'Intraflagellar transport', 'level': 4, 'score': 0.5050743}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.4727819}, {'id': 'https://openalex.org/C10447061', 'wikidata': 'https://www.wikidata.org/wiki/Q190769', 'display_name': 'Centrosome', 'level': 4, 'score': 0.4723645}, {'id': 'https://openalex.org/C2777267824', 'wikidata': 'https://www.wikidata.org/wiki/Q371520', 'display_name': 'Polydactyly', 'level': 2, 'score': 0.47027045}, {'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.444959}, {'id': 'https://openalex.org/C96777560', 'wikidata': 'https://www.wikidata.org/wiki/Q518638', 'display_name': 'Nonsense mutation', 'level': 5, 'score': 0.4106081}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.40409172}, {'id': 'https://openalex.org/C95444343', 'wikidata': 'https://www.wikidata.org/wiki/Q7141', 'display_name': 'Cell biology', 'level': 1, 'score': 0.35983568}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.2606772}, {'id': 'https://openalex.org/C29537977', 'wikidata': 'https://www.wikidata.org/wiki/Q188941', 'display_name': 'Cell cycle', 'level': 3, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D011506', 'descriptor_name': 'Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D012779', 'descriptor_name': 'Short Rib-Polydactyly Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002923', 'descriptor_name': 'Cilia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002923', 'descriptor_name': 'Cilia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002923', 'descriptor_name': 'Cilia', 'qualifier_ui': 'Q000502', 'qualifier_name': 'physiology', 'is_major_topic': False}, {'descriptor_ui': 'D020755', 'descriptor_name': 'Coat Protein Complex I', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020755', 'descriptor_name': 'Coat Protein Complex I', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D020755', 'descriptor_name': 'Coat Protein Complex I', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D018389', 'descriptor_name': 'Codon, Nonsense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003598', 'descriptor_name': 'Cytoskeletal Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D047108', 'descriptor_name': 'Embryonic Development', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D047108', 'descriptor_name': 'Embryonic Development', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053823', 'descriptor_name': 'Hedgehog Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006579', 'descriptor_name': 'Heterozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006720', 'descriptor_name': 'Homozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D047908', 'descriptor_name': 'Intracellular Signaling Peptides and Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051379', 'descriptor_name': 'Mice', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008817', 'descriptor_name': 'Mice, Mutant Strains', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008958', 'descriptor_name': 'Models, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D050505', 'descriptor_name': 'Mutant Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D050505', 'descriptor_name': 'Mutant Proteins', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D050505', 'descriptor_name': 'Mutant Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011247', 'descriptor_name': 'Pregnancy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011506', 'descriptor_name': 'Proteins', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D011506', 'descriptor_name': 'Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017384', 'descriptor_name': 'Sequence Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017386', 'descriptor_name': 'Sequence Homology, Amino Acid', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012779', 'descriptor_name': 'Short Rib-Polydactyly Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012779', 'descriptor_name': 'Short Rib-Polydactyly Syndrome', 'qualifier_ui': 'Q000196', 'qualifier_name': 'embryology', 'is_major_topic': False}, {'descriptor_ui': 'D012779', 'descriptor_name': 'Short Rib-Polydactyly Syndrome', 'qualifier_ui': 'Q000503', 'qualifier_name': 'physiopathology', 'is_major_topic': False}], 'locations_count': 6, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2011.03.015', 'pdf_url': 'https://www.cell.com/article/S0002929711001078/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc3071922', 'pdf_url': 'https://europepmc.org/articles/pmc3071922?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.research.ed.ac.uk/en/publications/f6910a2c-101c-4343-86b1-8560a733af5b', 'pdf_url': 'https://www.research.ed.ac.uk/files/8434025/Human_and_Mouse_Mutations_in_WDR35_Cause_Short_Rib_Polydactyly_Syndromes_Due_to_Abnormal_Ciliogenesis.pdf', 'source': {'id': 'https://openalex.org/S4306400320', 'display_name': 'Edinburgh Research Explorer (University of Edinburgh)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I98677209', 'host_organization_name': 'University of Edinburgh', 'host_organization_lineage': ['https://openalex.org/I98677209'], 'host_organization_lineage_names': ['University of Edinburgh'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071922', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://radar.brookes.ac.uk/radar/items/76caa74a-2f02-46c3-8308-9e462a1e0f67/1', 'pdf_url': 'https://radar.brookes.ac.uk/radar/file/76caa74a-2f02-46c3-8308-9e462a1e0f67/1/mill2011human.pdf', 'source': {'id': 'https://openalex.org/S4306400541', 'display_name': 'Radar (Oxford Brookes University)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I124261462', 'host_organization_name': 'Oxford Brookes University', 'host_organization_lineage': ['https://openalex.org/I124261462'], 'host_organization_lineage_names': ['Oxford Brookes University'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/21473986', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2011.03.015', 'pdf_url': 'https://www.cell.com/article/S0002929711001078/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 29, 'referenced_works': ['https://openalex.org/W162961686', 'https://openalex.org/W1976588897', 'https://openalex.org/W1976708316', 'https://openalex.org/W1982721158', 'https://openalex.org/W1989140036', 'https://openalex.org/W1999982116', 'https://openalex.org/W2010384718', 'https://openalex.org/W2022215748', 'https://openalex.org/W2023833832', 'https://openalex.org/W2029096450', 'https://openalex.org/W2039238855', 'https://openalex.org/W2040141661', 'https://openalex.org/W2048693470', 'https://openalex.org/W2060700608', 'https://openalex.org/W2064818329', 'https://openalex.org/W2065922392', 'https://openalex.org/W2071024393', 'https://openalex.org/W2083988049', 'https://openalex.org/W2085356690', 'https://openalex.org/W2088414228', 'https://openalex.org/W2094452381', 'https://openalex.org/W2097907753', 'https://openalex.org/W2105663489', 'https://openalex.org/W2110348183', 'https://openalex.org/W2113447712', 'https://openalex.org/W2124931121', 'https://openalex.org/W2133680859', 'https://openalex.org/W2140864413', 'https://openalex.org/W2917301833'], 'related_works': ['https://openalex.org/W4383710751', 'https://openalex.org/W4310527751', 'https://openalex.org/W3190835254', 'https://openalex.org/W3108602500', 'https://openalex.org/W2611768581', 'https://openalex.org/W2510019586', 'https://openalex.org/W2481923573', 'https://openalex.org/W2121042424', 'https://openalex.org/W1589408448', 'https://openalex.org/W1568408669'], 'abstract_inverted_index': {'Defects': [0, 231], 'in': [1, 7, 17, 105, 116, 118, 141, 154, 201, 213, 232, 238, 248, 336, 347, 349, 372, 385, 432, 444, 512, 529, 628, 677, 897, 959, 1024, 1111, 1114, 1121, 1148, 1160, 1195, 1201, 1285, 1321, 1340, 1386, 1438, 1460, 1470, 1486, 1538, 1553, 1569, 1636, 1649, 1664, 1748, 1892, 1919, 2005, 2015, 2097, 2163, 2186, 2248, 2324, 2358, 2362, 2424, 2479, 2546, 2571, 2582, 2598, 2612, 2653, 2660, 2684, 2691, 2758, 2777, 2784, 2788, 2843, 2897, 2920, 2926, 3012, 3032, 3036, 3109, 3183, 3310, 3356, 3414, 3448, 3468, 3494, 3521, 3527, 3541, 3550, 3558, 3644, 3711, 3732, 3742, 3758, 3763, 3768, 3804, 3859, 3890, 3933, 3941, 3961, 3967, 4017, 4096, 4168], 'cilia': [2, 76, 166, 233, 307, 397, 520, 528, 837, 871, 888, 1793, 2118, 2126, 2258, 2816, 2866, 3182, 3330, 3643, 3710, 3748, 3989, 3997, 4038, 4046, 4113, 4121], 'formation': [3, 234, 849], 'and': [4, 13, 113, 167, 173, 176, 204, 218, 235, 244, 344, 398, 404, 407, 435, 449, 474, 481, 568, 570, 580, 582, 619, 639, 673, 682, 687, 690, 703, 749, 759, 766, 799, 803, 806, 811, 868, 901, 937, 1051, 1082, 1136, 1145, 1167, 1248, 1270, 1517, 1703, 1745, 1794, 1801, 1833, 1852, 1900, 1917, 1947, 1954, 1968, 1988, 2008, 2025, 2082, 2102, 2158, 2205, 2225, 2265, 2334, 2350, 2377, 2382, 2397, 2445, 2460, 2463, 2468, 2475, 2486, 2503, 2513, 2528, 2533, 2584, 2607, 2663, 2667, 2730, 2757, 2774, 2851, 2854, 2870, 2881, 2905, 2910, 2936, 2951, 2960, 2971, 3016, 3050, 3056, 3063, 3077, 3114, 3133, 3148, 3156, 3170, 3187, 3195, 3214, 3230, 3267, 3297, 3313, 3322, 3426, 3431, 3452, 3454, 3458, 3473, 3475, 3479, 3497, 3507, 3575, 3592, 3599, 3615, 3620, 3625, 3629, 3660, 3666, 3670, 3673, 3682, 3687, 3692, 3696, 3909, 3954, 3972, 4022, 4091, 4147, 4162, 4189, 4195, 4231, 4265], 'function': [5, 44, 236, 275, 517, 1052, 3411], 'result': [6, 237, 2690, 3738, 3754], 'a': [8, 25, 88, 124, 130, 139, 239, 256, 319, 355, 361, 370, 465, 553, 557, 856, 921, 1104, 1129, 1276, 1314, 1381, 1467, 1539, 1548, 1576, 1650, 1659, 1864, 1977, 1990, 2032, 2083, 2328, 2398, 2402, 2425, 2447, 2461, 2522, 2692, 2766, 3003, 3033, 3246, 3273, 3395, 3443, 3547, 3589, 3753, 3769], 'range': [9, 240, 2448], 'of': [10, 27, 31, 45, 55, 65, 91, 102, 146, 152, 225, 229, 241, 258, 262, 276, 286, 296, 322, 333, 377, 383, 456, 460, 467, 483, 502, 518, 527, 560, 635, 671, 711, 768, 821, 845, 870, 877, 929, 986, 1041, 1053, 1085, 1099, 1106, 1134, 1162, 1278, 1289, 1348, 1515, 1579, 1638, 1706, 1714, 1782, 1790, 1798, 1804, 1837, 1868, 1940, 1981, 1993, 2022, 2039, 2046, 2055, 2147, 2167, 2169, 2194, 2231, 2262, 2322, 2331, 2449, 2493, 2537, 2551, 2554, 2563, 2578, 2591, 2627, 2639, 2665, 2669, 2695, 2736, 2761, 2857, 2874, 2893, 2946, 2965, 2976, 2989, 3010, 3020, 3025, 3039, 3103, 3105, 3203, 3206, 3249, 3261, 3264, 3303, 3346, 3359, 3372, 3412, 3445, 3516, 3523, 3534, 3641, 3708, 3745, 3755, 3771, 3828, 3851, 3937, 3950, 4067, 4141, 4150, 4185, 4214, 4219, 4224, 4237], 'human': [11, 72, 175, 206, 242, 303, 406, 437, 532, 1957, 2682, 3311, 3422, 3449, 3470, 3496], 'skeletal': [12, 243, 472, 485, 564, 666, 770, 800, 1122, 3734], 'visceral': [14, 245], 'abnormalities.': [15, 246, 584], 'Mutations': [16, 247, 1537, 1648, 2247, 3762], 'several': [18, 249, 1570, 1937], 'genes': [19, 250, 1117, 2122, 2431, 3993, 4042, 4117], 'have': [20, 251, 504, 586, 1118, 1156, 1633, 2806], 'been': [21, 252, 505, 587, 626, 1119, 1158, 1634], 'identified': [22, 97, 138, 253, 328, 369, 1120, 1159, 1339, 1568, 1863, 1989, 2031, 2361, 2392, 2545, 3767, 3856], 'to': [23, 93, 165, 183, 196, 254, 324, 396, 414, 427, 507, 648, 669, 739, 887, 1038, 1193, 1792, 1885, 1976, 2228, 2413, 2501, 2521, 2621, 2649, 2673, 2733, 3006, 3043, 3054, 3328, 3370, 3504, 3511, 3747, 3836, 3857, 3924, 4221, 4233, 4244], 'cause': [24, 145, 255, 376, 1244, 1544, 1609, 1655], 'proportion': [26, 257], 'these': [28, 46, 259, 277, 1639, 2170, 2592, 2954, 2977, 3463, 3559], 'disorders,': [29, 260], 'some': [30, 261, 501, 680, 1107, 1286, 3554], 'which': [32, 263, 503, 616, 861, 1064, 1115, 1274, 1312, 2179, 2805, 4093], 'display': [33, 264, 617, 797, 2254, 2453, 2491], 'genetic': [34, 265, 484, 640, 769], '(locus)': [35, 266], 'heterogeneity.': [36, 267], 'Mouse': [37, 268, 1074, 1631], 'models': [38, 269, 1856], 'are': [39, 67, 270, 298, 464, 552, 709, 838, 2095, 2277, 2619, 2962, 3097, 3107, 3143, 3176, 3193, 3198, 3317, 3632, 3699, 3921, 4015, 4094], 'valuable': [40, 271, 1855], 'for': [41, 51, 134, 272, 282, 365, 991, 1021, 1048, 1786, 1857, 1961, 2124, 2303, 2430, 2999, 3059, 3080, 3121, 3237, 3255, 3259, 3284, 3580, 3604, 3995, 4044, 4119, 4177], 'dissecting': [42, 273], 'the': [43, 56, 69, 80, 144, 155, 170, 180, 197, 223, 226, 274, 287, 300, 311, 375, 386, 401, 411, 428, 454, 457, 513, 531, 632, 712, 843, 853, 862, 873, 878, 882, 963, 1039, 1049, 1060, 1080, 1137, 1149, 1196, 1279, 1341, 1349, 1387, 1513, 1707, 1715, 1726, 1749, 1783, 1796, 1973, 2009, 2016, 2023, 2053, 2056, 2062, 2079, 2088, 2159, 2164, 2222, 2249, 2394, 2419, 2494, 2498, 2518, 2547, 2572, 2579, 2628, 2643, 2681, 2687, 2727, 2755, 2785, 2815, 2865, 2889, 2902, 2927, 2972, 2990, 3018, 3037, 3044, 3184, 3262, 3357, 3409, 3532, 3569, 3733, 3743, 3759, 3832, 3841, 3845, 3852, 3934, 3938, 4086, 4151, 4171, 4190, 4215, 4222, 4235, 4270], 'genes,': [47, 278], 'as': [48, 50, 143, 279, 281, 374, 753, 1059, 2884, 2886, 2924, 3562, 3752], 'well': [49, 280, 2885], 'more': [52, 283, 2807], 'detailed': [53, 284], 'analysis': [54, 285, 2045, 2562, 2873], 'underlying': [57, 288, 3740, 3844], 'developmental': [58, 135, 289, 366, 1055], 'defects.': [59, 290, 2451], 'The': [60, 291, 866, 952, 982, 1097, 1480, 1508, 2143, 2190, 2296, 2657, 2891, 4012, 4063], 'short-rib': [61, 292, 704, 1202, 1610], 'polydactyly': [62, 293, 705, 1203, 1611, 2662], '(SRP)': [63, 294], 'group': [64, 295, 559], 'disorders': [66, 297, 469, 561, 650], 'among': [68, 299, 4192], 'most': [70, 301, 736, 1883], 'severe': [71, 89, 126, 302, 320, 357, 1343, 1704, 2339, 2450], 'phenotypes': [73, 304, 2259, 2270, 2341, 3847], 'caused': [74, 305, 509, 1383, 1711], 'by': [75, 87, 306, 318, 471, 510, 563, 852, 940, 1384, 1712, 1876, 2794, 3029, 3240, 3306, 3439, 3564, 4257], 'dysfunction.': [77, 308], 'We': [78, 107, 159, 309, 338, 390, 2317, 2516], 'mapped': [79, 310, 1972, 2517], 'disease': [81, 312, 689, 1135, 1552, 1663, 1974], 'locus': [82, 313, 623, 1975, 2520], 'from': [83, 314, 842, 860, 884, 2048, 2061, 2565, 2704, 3211, 3272, 3421, 3588, 3654, 3739, 4144], 'two': [84, 315, 1872, 2017, 2069, 2325, 2833, 4247], 'siblings': [85, 316, 1935, 2027], 'affected': [86, 317, 1934, 2018, 2026], 'form': [90, 321], 'SRP': [92, 127, 207, 227, 323, 358, 438, 458, 629, 740, 1164, 1571, 1879, 1886, 2340, 2369, 2940, 3278, 3596, 3910, 3942], '2p24,': [94, 325], 'where': [95, 326, 2818], 'we': [96, 137, 189, 327, 368, 420, 1971, 2417, 2753, 2764, 2831, 3001, 3417, 3530, 3824, 4227], 'an': [98, 119, 329, 350, 1877, 2368, 2632, 2986, 4252, 4258], 'in-frame': [99, 330, 2165], 'homozygous': [100, 331, 1991, 2014, 2585], 'deletion': [101, 332, 1992, 2002, 2035, 2166], 'exon': [103, 334, 2037, 2059, 2552], '5': [104, 335, 2038, 2060], 'WDR35.': [106, 214, 337, 445, 2762, 2966], 'subsequently': [108, 339], 'found': [109, 340, 1635, 3966], 'compound': [110, 341], 'heterozygous': [111, 342, 2004, 2583], 'missense': [112, 343, 2399, 3854], 'nonsense': [114, 345, 2387], 'mutations': [115, 208, 346, 439, 511, 1147, 1243, 1337, 1385, 1459, 1608, 1632, 2357, 2683, 3757, 3830, 3855, 3940], 'WDR35': [117, 163, 192, 348, 394, 423, 1407, 1435, 1997, 2040, 2063, 2067, 2174, 2323, 2359, 2702, 2916, 2984, 2996, 3293, 3413, 3432, 3542, 3764, 3801, 3829, 3853, 3887, 3916, 3939, 3962, 4220, 4238, 4241], 'independent': [120, 351, 2834], 'second': [121, 352], 'case': [122, 353], 'with': [123, 149, 354, 380, 746, 789, 962, 1583, 1725, 1871, 1897, 1914, 2177, 2181, 2260, 2269, 2327, 2338, 2367, 2372, 2510, 2605, 2631, 2708, 2772, 2797, 2821, 2860, 3022, 3073, 3085, 3099, 3126, 3145, 3163, 3178, 3219, 3257, 3289, 3319, 3337, 3546, 3609, 3634, 3676, 3701, 3773, 4085, 4251], 'similar,': [125, 356], 'phenotype.': [128, 359], 'In': [129, 360, 786, 1036, 1335, 2602, 2802], 'mouse': [131, 177, 362, 408, 1716, 2421, 2688, 2768, 2789, 2876, 3075, 3153, 3427, 3455, 3476, 3498, 3650], 'mutation': [132, 140, 363, 371, 2161, 2388, 2400, 2543, 2652], 'screen': [133, 364, 2429], 'phenotypes,': [136, 367], 'Wdr35': [142, 373, 2555, 2580, 2610, 2640, 2654, 2769, 2829, 2848, 3011, 3026, 3134, 3171, 3226, 3324, 3347, 3365], 'midgestation': [147, 378], 'lethality,': [148, 379], 'abnormalities': [150, 381, 1191, 2379], 'characteristic': [151, 382], 'defects': [153, 384, 1194, 2455], 'Hedgehog': [156, 387, 1066, 1709, 1746, 1831], 'signaling': [157, 388, 1056, 1832], 'pathway.': [158, 389], 'show': [160, 190, 391, 421, 3638, 3705], 'that': [161, 174, 191, 205, 392, 405, 422, 436, 651, 1881, 1893, 2071, 2616, 2642, 2680, 2847, 2957, 2983, 2995, 3243, 3919, 4167], 'endogenous': [162, 393, 2828, 2947], 'localizes': [164, 395], 'centrosomes': [168, 399, 1516, 2853], 'throughout': [169, 400, 2888], 'developing': [171, 402, 2903], 'embryo': [172, 403, 2470], 'fibroblasts': [178, 409, 2941, 3420, 3652], 'lacking': [179, 410], 'protein': [181, 412, 955, 1139, 1199, 1827, 2299, 2770, 3537, 3834, 4080], 'fail': [182, 413], 'produce': [184, 415], 'cilia.': [185, 416, 2991, 3023], 'Through': [186, 417], 'structural': [187, 211, 418, 442, 1042], 'modeling,': [188, 419], 'has': [193, 424, 625, 665], 'strong': [194, 425], 'homology': [195, 426, 3826, 3928, 4218, 4232], 'COPI': [198, 429], 'coatamers': [199, 430], 'involved': [200, 431, 958, 1437, 1469, 1485, 2096, 3803, 3889, 4016, 4095], 'vesicular': [202, 433, 4178], 'trafficking': [203, 434, 2230, 2735], 'affect': [209, 440, 1346, 3913], 'key': [210, 441, 1054], 'elements': [212, 443], 'Our': [215, 446], 'report': [216, 447], 'expands,': [217, 448], 'sheds': [219, 450], 'new': [220, 451], 'light': [221, 452], 'on,': [222, 453], 'pathogenesis': [224, 455], 'spectrum': [228, 459, 3736], 'ciliopathies.': [230, 461], 'Main': [462], 'TextThere': [463], 'number': [466, 3019, 3038, 3358], 'recessive': [468, 2426], 'characterized': [470, 562, 2754], 'dysplasia': [473, 732, 791, 823, 3735], 'multiorgan': [475], 'anomalies,1Superti-Furga': [476], 'A.': [477, 492, 762, 777, 1069, 1374, 1414, 1589, 1591, 1691, 1924, 2110, 3780, 3866, 3981, 4030, 4105], 'Unger': [478, 763], 'S.': [479, 764, 1232, 1303, 1597, 1679, 1908, 2114, 2207, 2712, 3985, 4034, 4109], 'Nosology': [480, 765], 'classification': [482, 767], 'disorders:': [486, 771], '2006': [487, 772], 'revision.Am.': [488, 773], 'J.': [489, 534, 715, 774, 826, 1205, 1230, 1254, 1301, 1309, 1356, 1358, 1390, 1428, 1441, 1615, 1695, 1776, 1778, 1816, 1921, 3794, 3807, 3880, 3893, 4183], 'Med.': [490, 535, 539, 716, 775, 827, 1922], 'Genet.': [491, 536, 540, 717, 776, 828, 1207, 1256, 1326, 1392, 1443, 1617, 1923, 3809, 3895], '2007;': [493, 778, 1327, 1925], '143:': [494, 779], '1-18Crossref': [495, 780], 'PubMed': [496, 544, 721, 781, 832, 909, 971, 999, 1031, 1092, 1216, 1265, 1330, 1401, 1452, 1499, 1524, 1562, 1626, 1673, 1735, 1758, 1810, 1847, 1928, 2136, 2153, 2200, 2242, 2312, 2747, 3818, 3904, 4007, 4056, 4073, 4131, 4157, 4207], 'Scopus': [497, 545, 722, 782, 833, 910, 972, 1000, 1032, 1093, 1217, 1266, 1331, 1402, 1453, 1500, 1525, 1563, 1627, 1674, 1736, 1759, 1811, 1848, 1929, 2137, 2154, 2201, 2243, 2313, 2748, 3819, 3905, 4008, 4057, 4074, 4132, 4158, 4208], '(279)': [498, 783], 'Google': [499, 547, 724, 784, 835, 912, 974, 1002, 1034, 1095, 1219, 1268, 1333, 1404, 1455, 1502, 1527, 1565, 1629, 1676, 1738, 1761, 1813, 1850, 1931, 2139, 2156, 2203, 2245, 2315, 2750, 3821, 3907, 4010, 4059, 4076, 4134, 4160, 4210], 'Scholar': [500, 548, 725, 785, 913, 1035, 1096, 1269, 1334, 1405, 1456, 1566, 1630, 1851, 1932, 2157, 2204, 2246, 2316, 2751, 3822, 3908, 4011, 4077, 4161, 4211], 'shown': [506, 2412, 2793, 2925, 3108, 3563, 4166], 'be': [508, 1103, 1854, 2414, 3925], 'development,': [514], 'structure,': [515], 'or': [516, 933, 942, 1140, 1406, 2675, 3067, 3091, 3276, 3594, 3622, 3646, 3662, 3689, 3713], 'primary': [519, 1487, 2236, 2741, 2880, 3415, 3419], '(ciliopathies).2Baker': [521], 'K.': [522, 1587, 1774], 'Beales': [523], 'P.L.': [524, 949, 1291], 'Making': [525], 'sense': [526], 'disease:': [530], 'ciliopathies.Am.': [533], 'C.': [537, 1174, 1234, 1297, 1366, 1410, 1585, 1681, 2187, 2250, 2281, 3776, 3862, 4181], 'Semin.': [538], '2009;': [541, 1208, 1257, 1732], '151C:': [542], '281-295Crossref': [543], '(239)': [546], 'Short-rib': [549], 'polydactylies': [550], '(SRPs)': [551], 'prime': [554], 'example,': [555], 'being': [556], 'heterogeneous': [558], 'defects,': [565, 579, 805, 1946], 'short': [566, 1249, 1911], 'ribs': [567], 'limbs,': [569], 'polydactyly.': [571], 'Visceral': [572], 'features': [573, 667, 751, 1109], 'can': [574], 'include': [575], 'polycystic': [576, 1550, 1661], 'kidneys,': [577], 'laterality': [578, 1945], 'cardiovasular': [581], 'brain': [583], 'SRPs': [585], 'classified': [588], 'into': [589, 926, 2235, 2740, 3840, 4246], 'four': [590, 2335], 'types,': [591], '(Saldino-Noonan': [592], 'syndrome,': [593, 599, 605, 611, 1251, 1379], 'type': [594, 600, 606, 612, 706, 1165, 1252, 1572, 1613, 1887], 'I': [595], '[MIM': [596, 602, 608, 614, 663, 733, 795, 1465], '263530];': [597], 'Majewski': [598, 2352], 'II': [601, 1573, 3333], '263520];': [603], 'Verma-Naumoff': [604], 'III': [607, 707, 741, 1166, 1888], '263510];': [609], 'Beemer-Langer': [610, 2346], 'IV': [613], '269860]),': [615], 'clinical': [618, 655, 750, 1108, 2329, 3846], 'molecular': [620, 944, 1962, 3842], 'overlap.': [621], 'Although': [622], 'heterogeneity': [624, 638], 'demonstrated': [627], '(see': [630], 'below),': [631], 'relative': [633], 'contribution': [634], 'both': [636, 1079, 1163, 1799, 2006, 2879, 2958, 3469, 3495, 3860], 'allelic': [637], 'background': [641], 'modification': [642], 'remains': [643], 'unclear.': [644], 'This': [645, 914, 2001, 4267], 'question': [646], 'extends': [647], 'other': [649, 1287, 2273, 2709, 3968], 'share': [652, 2072], 'similar': [653, 668, 737, 1884, 3948, 4079], 'overlapping': [654, 1724], 'features.': [656], 'Asphyxiating': [657], 'thoracic': [658, 701, 1246, 1324], 'dystrophy': [659, 702, 1247], '(ATD,': [660], 'Jeune': [661, 699, 1322, 2332], 'syndrome': [662, 729, 794, 1345, 1612, 1880, 1913, 2333, 3945], '208500])': [664], 'those': [670], 'SRP,': [672, 2349], 'patients': [674, 788, 3772], 'usually': [675], 'die': [676, 2437], 'infancy,': [678], 'although': [679], 'survive': [681], 'later': [683], 'may': [684, 1102], 'develop': [685], 'liver': [686], 'kidney': [688, 1551, 1662, 3154], 'retinal': [691, 812], 'degeneration.3Ho': [692], 'N.C.': [693], 'Francomano': [694], 'C.A.': [695], 'van': [696, 727, 1421, 1426, 3787, 3792, 3873, 3878], 'Allen': [697], 'M.': [698, 1224, 1307, 1372, 1425, 1599, 1693, 1768, 3791, 3877], 'asphyxiating': [700, 1245, 1323], '(Verma-Naumoff)': [708], 'variants': [710, 1436, 2595, 3802, 3888], 'same': [713, 3760], 'disorder.Am.': [714], '2000;': [718, 1559, 1670], '90:': [719], '310-314Crossref': [720], '(43)': [723], 'Ellis': [726], 'Creveld': [728], '(EVC,': [730], 'chondroectodermal': [731], '22550])': [734], 'is': [735, 850, 938, 957, 989, 1019, 1045, 1125, 1283, 1319, 1380, 1484, 2175, 2301, 2472, 2477, 2647, 2697, 2985, 2997, 3245, 3308, 3965, 4082, 4175, 4242], 'histologically': [738], 'but': [742, 1889, 2012], 'often': [743], 'presents': [744], 'postnatally,': [745], 'distinct': [747], 'radiological': [748], 'such': [752, 1058], 'congenital': [754], 'heart': [755, 2465], 'disease,': [756, 1942], 'supernumerary': [757], 'digits,': [758], 'ectodermal': [760], 'dysplasia.1Superti-Furga': [761], 'addition,': [787], 'cranioectodermal': [790, 822], '(CED,': [792], 'Sensenbrenner': [793, 1378, 1439, 3774, 3805, 3891, 3944], '218330])': [796], 'craniofacial': [798], 'abnormalities,': [801], 'hair': [802], 'tooth': [804], 'variable': [807], 'liver,': [808], 'kidney,': [809], 'brain,': [810], 'anomalies.4Amar': [813], 'M.J.': [814, 1182], 'Sutphen': [815], 'R.': [816, 1007, 1906], 'Kousseff': [817], 'B.G.': [818], 'Expanded': [819], 'phenotype': [820, 2370, 2646, 2975], '(Sensenbrenner': [824], 'syndrome).Am.': [825], '1997;': [829], '70:': [830], '349-352Crossref': [831], '(20)': [834], 'ScholarPrimary': [836], 'complex': [839, 1352, 1717, 2182, 2224, 2274, 2729, 3535, 3970], 'organelles': [840], 'protruding': [841], 'surface': [844], 'nondividing': [846], 'cells.': [847, 2779, 3461, 3482], 'Their': [848], 'organized': [851, 925], 'basal': [854, 2855, 3571], 'body;': [855], 'modified': [857], 'centriole': [858], 'structure': [859, 3749, 3835, 4081, 4223, 4236], 'microtubule-based': [863], 'axoneme': [864, 883, 2867], 'extends.': [865], 'assembly': [867, 1023], 'maintenance': [869], 'requires': [872], 'dynamic': [874], 'bidirectional': [875], 'movement': [876], 'multiprotein': [879], 'complexes': [880, 4088], 'along': [881, 2814, 2864], 'cell': [885, 2050], 'body': [886], 'tip.5Pedersen': [889], 'L.B.': [890], 'Rosenbaum': [891, 950], 'J.L.': [892, 951, 1295], 'Intraflagellar': [893, 1825], 'transport': [894, 918, 1040, 1076, 1198, 1317, 1720, 1826, 2145, 2192, 2266, 3519, 4065, 4143], '(IFT)': [895], 'role': [896, 3549], 'ciliary': [898, 1141, 1835], 'assembly,': [899], 'resorption': [900], 'signalling.Curr.': [902], 'Top.': [903], 'Dev.': [904, 2238, 2743], 'Biol.': [905, 967, 995, 1026, 1520, 1731, 1806, 2307], '2008;': [906, 1491, 1521], '85:': [907], '23-61Crossref': [908], '(391)': [911], 'process,': [915], 'termed': [916], 'intraflagellar': [917, 1075, 1316, 1719, 2144, 2191, 2305, 4064, 4142], '(IFT),': [919], 'involves': [920], 'conserved': [922, 1315, 2404, 3915], 'core': [923], 'machinery': [924, 2146, 2193, 2264, 4066], 'trains': [927], 'composed': [928], 'either': [930], 'IFT-B': [931, 1281], '(anterograde)': [932], 'IFT-A': [934, 1350, 2223, 2710, 2728], '(retrograde)': [935], 'components': [936, 1347, 3526], 'driven': [939], 'kinesin': [941], 'dynein': [943, 988, 1015, 1151], 'motors,': [945], 'respectively.6Kozminski': [946], 'K.G.': [947], 'Beech': [948], 'Chlamydomonas': [953, 2148, 2195, 4068], 'kinesin-like': [954], 'FLA10': [956], 'motility': [960], 'associated': [961, 1896, 2371], 'flagellar': [964, 992, 1022], 'membrane.J.': [965], 'Cell': [966, 994, 1519], '1995;': [968], '131:': [969], '1517-1527Crossref': [970], '(437)': [973], 'Scholar,': [975, 1003, 1220, 1503, 1528, 1677, 1739, 1762, 1814, 2140, 4060, 4135], '7Pazour': [976], 'G.J.': [977], 'Dickert': [978], 'B.L.': [979], 'Witman': [980], 'G.B.': [981], 'DHC1b': [983], '(DHC2)': [984], 'isoform': [985], 'cytoplasmic': [987, 3304], 'required': [990, 1020, 2123, 2302, 2998, 3994, 4043, 4118], 'assembly.J.': [993], '1999;': [996, 1028], '144:': [997], '473-481Crossref': [998], '(359)': [1001], '8Porter': [1004], 'M.E.': [1005], 'Bower': [1006], 'Knott': [1008], 'J.A.': [1009], 'Byrd': [1010], 'P.': [1011, 1420, 1530, 1641, 1902, 3786, 3872], 'Dentler': [1012], 'W.': [1013], 'Cytoplasmic': [1014], 'heavy': [1016], 'chain': [1017], '1b': [1018], 'Chlamydomonas.Mol.': [1025], 'Cell.': [1027, 2308], '10:': [1029], '693-712Crossref': [1030], '(267)': [1033], 'addition': [1037], 'units,': [1043], 'IFT': [1044, 1787, 2184, 2263, 3518, 3525, 3552, 3969], 'also': [1046, 2318, 2473, 2812, 3234, 3252, 4083], 'essential': [1047, 2987, 4176], 'localization': [1050, 1789, 1836, 2760, 2917, 2970, 3533], 'components,': [1057], 'Gli': [1061, 1086], 'transcription': [1062, 1087], 'factors,': [1063], 'transduce': [1065], '(Hh)': [1067], 'signaling.9Liu': [1068], 'Wang': [1070, 1680, 1682, 1769], 'B.': [1071, 1172, 1299, 1423, 1479, 1683, 1770, 2211, 2716, 3789, 3875], 'Niswander': [1072], 'L.A.': [1073], 'proteins': [1077, 4188], 'regulate': [1078], 'activator': [1081, 1800], 'repressor': [1083, 1802], 'functions': [1084, 1803], 'factors.Development.': [1088], '2005;': [1089, 1755, 1807], '132:': [1090], '3103-3111Crossref': [1091], '(423)': [1094], 'loss': [1098, 2054, 2694, 3515], 'Hh': [1100], 'regulation': [1101], 'hallmark': [1105], 'observed': [1110, 2271, 2783, 3309, 3363, 3960], 'ciliopathies.In': [1112], 'cases': [1113, 1161, 1288, 2326, 2337], 'mutated': [1116, 1284, 1320], 'dysplasias,': [1123], 'it': [1124, 1894, 2776, 2819, 4163], 'not': [1126], 'known': [1127, 2699], 'whether': [1128], 'correlation': [1130], 'exists': [1131], 'between': [1132, 2526, 3730], 'severity': [1133], 'particular': [1138, 2661], 'process': [1142], 'affected.': [1143], 'Homozygous': [1144], 'compound-heterozygous': [1146], 'retrograde': [1150, 1197, 1351, 1784, 2257, 2304, 3517, 3551], 'motor': [1152, 1785], 'DYNC2H1': [1153, 1200], '(MIM': [1154, 1272, 1354, 1408, 3539], '603297)': [1155], 'recently': [1157, 1338, 3766, 4165], 'ATD/Jeune': [1168], 'syndrome,10Merrill': [1169], 'A.E.': [1170], 'Merriman': [1171], 'Farrington-Rock': [1173], 'Camacho': [1175], 'N.': [1176, 1222, 1475], 'Sebald': [1177], 'E.T.': [1178], 'Funari': [1179], 'V.A.': [1180], 'Schibler': [1181], 'Firestein': [1183], 'M.H.': [1184], 'Cohn': [1185], 'Z.A.': [1186], 'Priore': [1187], 'M.A.': [1188, 2285], 'et': [1189, 1241, 1310, 1375, 1431, 1606, 1698, 3797, 3883], 'al.Ciliary': [1190], 'due': [1192, 2648], 'syndrome.Am.': [1204, 1440, 3806, 3892], 'Hum.': [1206, 1255, 1391, 1442, 1616, 3808, 3894], '84:': [1209, 1258], '542-549Abstract': [1210], 'Full': [1211, 1213, 1260, 1262, 1396, 1398, 1447, 1449, 1494, 1496, 1621, 1623, 2131, 2133, 3813, 3815, 3899, 3901, 4002, 4004, 4051, 4053, 4126, 4128, 4202, 4204], 'Text': [1212, 1214, 1261, 1263, 1397, 1399, 1448, 1450, 1495, 1497, 1622, 1624, 2132, 2134, 3814, 3816, 3900, 3902, 4003, 4005, 4052, 4054, 4127, 4129, 4203, 4205], 'PDF': [1215, 1264, 1400, 1451, 1498, 1625, 2135, 3817, 3903, 4006, 4055, 4130, 4206], '(116)': [1218], '11Dagoneau': [1221], 'Goulet': [1223], 'Geneviève': [1225], 'D.': [1226, 1360, 1601, 1689, 1741, 4139], 'Sznajer': [1227], 'Y.': [1228, 1477, 1772, 1818], 'Martinovic': [1229], 'Smithson': [1231], 'Huber': [1233], 'Baujat': [1235], 'G.': [1236, 1370, 2287, 4137], 'Flori': [1237], 'E.': [1238, 1293, 1605, 1687, 2108, 3979, 4028, 4103], 'Tecco': [1239], 'L.': [1240, 1416, 3782, 3868], 'al.DYNC2H1': [1242], 'rib-polydactyly': [1250, 1912], 'III.Am.': [1253], '706-711Abstract': [1259], '(171)': [1267], 'IFT80': [1271], '611177),': [1273], 'encodes': [1275, 1313, 2068], 'component': [1277, 2988], 'anterograde': [1280, 3524], 'complex,': [1282], 'ATD.12Beales': [1290], 'Bland': [1292], 'Tobin': [1294], 'Bacchelli': [1296], 'Tuysuz': [1298], 'Hill': [1300], 'Rix': [1302], 'Pearson': [1304], 'C.G.': [1305], 'Kai': [1306], 'Hartley': [1308], 'al.IFT80,': [1311], 'protein,': [1318], 'dystrophy.Nat.': [1325], '39:': [1328], '727-729Crossref': [1329], '(247)': [1332], 'contrast,': [1336], 'less': [1342], 'CED/Sensenbrenner': [1344], 'IFT122': [1353, 1388], '606045)13Walczak-Sztulpa': [1355], 'Eggenschwiler': [1357, 1823], 'Osborn': [1359], 'Brown': [1361], 'D.A.': [1362, 1418, 3784, 3870], 'Emma': [1363], 'F.': [1364], 'Klingenberg': [1365], 'Hennekam': [1367], 'R.C.': [1368], 'Torre': [1369], 'Garshasbi': [1371], 'Tzschach': [1373], 'al.Cranioectodermal': [1376], 'Dysplasia,': [1377], 'ciliopathy': [1382], 'gene.Am.': [1389], '2010;': [1393, 1444, 2239, 2744, 3810, 3896, 4199], '86:': [1394], '949-956Abstract': [1395], '(147)': [1403], '613602).14Gilissen': [1409], 'Arts': [1411, 1419, 3777, 3785, 3863, 3871], 'H.H.': [1412, 3778, 3864], 'Hoischen': [1413, 3779, 3865], 'Spruijt': [1415, 3781, 3867], 'Mans': [1417, 3783, 3869], 'Lier': [1422, 3788, 3874], 'Steehouwer': [1424, 3790, 3876], 'Reeuwijk': [1427, 3793, 3879], 'Kant': [1429, 3795, 3881], 'S.G.': [1430, 3796, 3882], 'al.Exome': [1432, 3798, 3884], 'sequencing': [1433, 2021, 2321, 2536, 3799, 3885], 'identifies': [1434, 3800, 3886], '87:': [1445, 3811, 3897], '418-423Abstract': [1446, 3812, 3898], '(228)': [1454, 3820, 3906], 'Most': [1457], 'recently,': [1458], 'Never-in-mitosis': [1461], 'Kinase': [1462], '1': [1463], '(NEK1': [1464], '604588]),': [1466], 'gene': [1468, 1721, 1729], 'initiating': [1471], 'ciliogenesis,15Shalom': [1472], 'O.': [1473], 'Shalva': [1474], 'Altschuler': [1476], 'Motro': [1478], 'mammalian': [1481, 2701, 2978], 'Nek1': [1482, 1511], 'kinase': [1483, 1541, 1652], 'cilium': [1488], 'formation.FEBS': [1489], 'Lett.': [1490], '582:': [1492], '1465-1470Abstract': [1493], '(73)': [1501], '16White': [1504], 'M.C.': [1505], 'Quarmby': [1506], 'L.M.': [1507], 'NIMA-family': [1509], 'kinase,': [1510], 'affects': [1512], 'stability': [1514], 'ciliogenesis.BMC': [1518], '9:': [1522], '29Crossref': [1523], '(57)': [1526], '17Upadhya': [1529], 'Birkenmeier': [1531, 1533, 1642, 1644], 'E.H.': [1532, 1643], 'C.S.': [1534, 1645, 2116, 3987, 4036, 4111], 'Barker': [1535, 1646], 'J.E.': [1536, 1647], 'NIMA-related': [1540, 1651], 'gene,': [1542, 1653], 'Nek1,': [1543, 1654], 'pleiotropic': [1545, 1656], 'effects': [1546, 1657], 'including': [1547, 1575, 1658, 1943, 2456, 2497, 2901], 'progressive': [1549, 1660], 'mice.Proc.': [1554, 1665], 'Natl.': [1555, 1666, 1751, 1840], 'Acad.': [1556, 1667, 1752, 1841], 'Sci.': [1557, 1668, 1753, 1842], 'USA.': [1558, 1669, 1754, 1843], '97:': [1560, 1671], '217-221Crossref': [1561, 1672], '(131)': [1564, 1675], 'were': [1567, 1959, 2360, 3071, 3118, 3161, 3281, 3335, 3436, 3465, 3488, 3601, 3668, 3765], 'cases,': [1574], 'potential': [1577], 'example': [1578], 'digenic': [1580], 'diallelic': [1581], 'inheritance': [1582], 'DYNC2H1.18Thiel': [1584], 'Kessler': [1586], 'Giessl': [1588], 'Dimmler': [1590], 'Shalev': [1592], 'S.A.': [1593], 'von': [1594], 'der': [1595], 'Haar': [1596], 'Zenker': [1598], 'Zahnleiter': [1600], 'Stöss': [1602], 'H.': [1603], 'Beinder': [1604], 'al.NEK1': [1607], 'majewski.Am.': [1614], '2011;': [1618, 1844], '88:': [1619], '106-114Abstract': [1620], '(123)': [1628], 'many': [1637], 'genes17Upadhya': [1640], '19Cortellino': [1678], 'Bassi': [1684], 'M.R.': [1685, 2295], 'Caretti': [1686], 'Champeval': [1688], 'Calmont': [1690], 'Jarnik': [1692], 'Burch': [1694], 'Zaret': [1696], 'K.S.': [1697], 'al.Defective': [1699], 'ciliogenesis,': [1700, 3000], 'embryonic': [1701, 2433, 3651], 'lethality': [1702], 'impairment': [1705], 'Sonic': [1708, 1830], 'pathway': [1710, 1838], 'inactivation': [1713], 'A': [1718, 2183, 2275, 2384, 2540, 3353, 3947, 3971, 4078], 'Ift122/Wdr10,': [1722], 'partially': [1723], 'DNA': [1727], 'repair': [1728], 'Med1/Mbd4.Dev.': [1730], '325:': [1733], '225-237Crossref': [1734], '(92)': [1737], '20Huangfu': [1740], 'Anderson': [1742], 'K.V.': [1743], 'Cilia': [1744, 3055, 3434], 'responsiveness': [1747], 'mouse.Proc.': [1750], '102:': [1756], '11325-11330Crossref': [1757], '(638)': [1760], '21May': [1763], 'S.R.': [1764], 'Ashique': [1765], 'A.M.': [1766, 2106, 3977, 4026, 4101], 'Karlen': [1767], 'Shen': [1771], 'Zarbalis': [1773], 'Reiter': [1775], 'Ericson': [1777], 'Peterson': [1779], 'A.S.': [1780], 'Loss': [1781], 'disrupts': [1788], 'Smo': [1791], 'prevents': [1795], 'expression': [1797, 2945, 3009], 'Gli.Dev.': [1805], '287:': [1808], '378-389Crossref': [1809], '(343)': [1812], '22Qin': [1815], 'Lin': [1817], 'Norman': [1819], 'R.X.': [1820], 'Ko': [1821], 'H.W.': [1822], 'J.T.': [1824], '122': [1828], 'antagonizes': [1829], 'controls': [1834, 3430], 'components.Proc.': [1839], '108:': [1845], '1456-1461Crossref': [1846], '(128)': [1849], 'will': [1853], 'understanding': [1858], 'ciliopathic': [1859, 1941, 2974], 'phenotype-genotype': [1860], 'correlations.We': [1861], 'previously': [1862], 'New': [1865], 'Zealand': [1866], 'family': [1867], 'Maori': [1869], 'descent': [1870], 'consecutive': [1873], 'pregnancies': [1874], 'complicated': [1875], 'unclassifiable': [1878, 1910, 2343], 'was': [1882, 1890, 1895, 2003, 2013, 2391, 2411, 2544, 2782, 2811, 2895, 2918, 3362, 3367, 3392, 4164], 'novel': [1891], 'acromesomelic': [1898, 1915], 'hypomineralisation': [1899], 'campomelia.23Kannu': [1901], 'McFarlane': [1903], 'J.H.': [1904], 'Savarirayan': [1905], 'Aftimos': [1907], 'An': [1909], 'hypomineralization': [1916], 'campomelia': [1918], 'siblings.Am.': [1920], '143A:': [1926], '2607-2611Crossref': [1927], '(8)': [1930], 'These': [1933], 'exhibited': [1936], 'additional': [1938, 2336, 3238, 3838], 'hallmarks': [1939], 'polysyndactyly,': [1944], 'cystic': [1948], 'kidneys.': [1949], 'After': [1950], 'institutional': [1951], 'ethics': [1952], 'approval': [1953], 'informed': [1955], 'consent,': [1956], 'samples': [1958], 'collected': [1960], 'analysis.': [1963], 'Using': [1964], 'genome-wide': [1965], 'SNP': [1966], 'genotyping': [1967], 'CNV': [1969], 'analysis,': [1970, 3242], '5.5': [1978], 'Mb': [1979, 2524], 'region': [1980, 2030, 2787], 'chromosome': [1982, 2531], '2p24': [1983], '(Figure': [1984, 1999, 2041, 2065, 2091, 2172, 2365, 2506, 2556, 2588, 2624, 2655, 2799, 2824, 3501, 3848, 3911, 3963, 4239], 'S1A': [1985], 'available': [1986], 'online)': [1987], 'three': [1994], 'SNPs': [1995], 'within': [1996], '(NM_001006657.1)': [1998], 'S1B).': [2000], 'parents': [2007, 2024], 'unaffected': [2010], 'sibling': [2011], 'siblings.': [2019], 'Direct': [2020], 'over': [2028], 'this': [2029, 2650, 2915], '2847': [2033], 'bp': [2034, 2058], 'spanning': [2036], '1C': [2042], ').': [2043, 2801], 'PCR': [2044], 'cDNA': [2047, 2564], 'patient': [2049, 3279, 3597], 'lines': [2051], 'confirmed': [2052, 2575, 2846], '129': [2057], 'mRNA': [2064, 2581, 3027, 3348, 3366], '1D).': [2066], 'isoforms': [2070], 'seven': [2073], 'closely': [2074], 'spaced': [2075], 'WD40': [2076, 2093, 3952], 'repeats': [2077, 2094, 2171, 3953, 4014], 'at': [2078, 2087, 2850, 2931], 'amino': [2080], 'terminus': [2081, 2090], 'tetratricopeptide': [2084, 3956], 'repeat-like': [2085], 'motif': [2086], 'carboxyl': [2089], '1E).': [2092, 2173], 'intracellular': [2098, 4018], 'trafficking,': [2099, 4019], 'cargo': [2100, 4020], 'recognition,': [2101, 4021], 'binding,24Avidor-Reiss': [2103], 'T.': [2104, 2112, 3975, 3983, 4024, 4032, 4099, 4107], 'Maer': [2105, 3976, 4025, 4100], 'Koundakjian': [2107, 3978, 4027, 4102], 'Polyanovsky': [2109, 3980, 4029, 4104], 'Keil': [2111, 3982, 4031, 4106], 'Subramaniam': [2113, 3984, 4033, 4108], 'Zuker': [2115, 3986, 4035, 4110], 'Decoding': [2117, 3988, 4037, 4112], 'function:': [2119, 3990, 4039, 4114], 'defining': [2120, 3991, 4040, 4115], 'specialized': [2121, 2882, 3992, 4041, 4116], 'compartmentalized': [2125, 3996, 4045, 4120], 'biogenesis.Cell.': [2127, 3998, 4047, 4122], '2004;': [2128, 3999, 4048, 4123], '117:': [2129, 4000, 4049, 4124], '527-539Abstract': [2130, 4001, 4050, 4125], '(417)': [2138, 4009, 4058, 4133], '25Cole': [2141, 4061], 'D.G.': [2142, 2189, 4062], 'reinhardtii.Traffic.': [2149, 2196, 4069], '2003;': [2150, 2197, 4070], '4:': [2151, 2198, 4071], '435-442Crossref': [2152, 2199, 4072], '(194)': [2155, 2202, 4075], 'WDR35Δ5': [2160, 2939, 2948, 2959], 'results': [2162, 3520], 'one': [2168, 2345, 2351, 2363], 'orthologous': [2176], 'Ift121,': [2178], 'fractionates': [2180], 'particles': [2185], 'reinhardtii25Cole': [2188], 'mammals.26Mukhopadhyay': [2206], 'Wen': [2208, 2713], 'X.': [2209, 2714], 'Chih': [2210, 2715], 'Nelson': [2212, 2717], 'C.D.': [2213, 2718], 'Lane': [2214, 2719], 'W.S.': [2215, 2720], 'Scales': [2216, 2721], 'S.J.': [2217, 2722], 'Jackson': [2218, 2723], 'P.K.': [2219, 2724], 'TULP3': [2220, 2725], 'bridges': [2221, 2726], 'membrane': [2226, 2731], 'phosphoinositides': [2227, 2732], 'promote': [2229, 2734], 'G': [2232, 2737], 'protein-coupled': [2233, 2738], 'receptors': [2234, 2739], 'cilia.Genes': [2237, 2742], '24:': [2240, 2745], '2180-2193Crossref': [2241, 2746], '(252)': [2244, 2749], 'elegans': [2251], 'ortholog': [2252], '(ifta-1)': [2253], 'classic': [2255], 'truncated': [2256], 'accumulations': [2261, 3567], 'profiles': [2267], 'consistent': [2268], 'when': [2272, 3364], 'subunits': [2276], 'mutated.27Blacque': [2278], 'O.E.': [2279], 'Li': [2280], 'Inglis': [2282], 'P.N.': [2283], 'Esmail': [2284], 'Ou': [2286], 'Mah': [2288], 'A.K.': [2289], 'Baillie': [2290], 'D.L.': [2291], 'Scholey': [2292], 'J.M.': [2293], 'Leroux': [2294], 'WD': [2297], 'repeat-containing': [2298], 'IFTA-1': [2300], 'transport.Mol.': [2306], '2006;': [2309, 4154], '17:': [2310], '5053-5062Crossref': [2311], '(74)': [2314], 'performed': [2319], 'candidate-gene': [2320], 'diagnosis': [2330], '(two': [2342], 'SRPs,': [2344], '[type': [2347, 2353], 'IV]': [2348], 'II]': [2354], 'SRP).': [2355], 'Heteroallelic': [2356], 'fetus': [2364], 'S1C)': [2366], 'extreme': [2373], 'micromelia,': [2374], 'postaxial': [2375], 'polydactyly,': [2376], 'facial': [2378], '(Figures': [2380, 2484, 2868, 2908, 2934, 2949, 3048, 3423, 3428, 3450, 3456, 3471, 3477, 3573, 4263], '1A': [2381], '1B).': [2383], 'de': [2385], 'novo': [2386], '(c.1633C>T': [2389], '[p.Arg545X])': [2390], 'on': [2393, 2530, 3831], 'paternal': [2395], 'allele,': [2396], 'affecting': [2401, 2432], 'highly': [2403, 2898, 3914], 'tryptophan': [2405], 'residue': [2406], '(c.781T>C': [2407], '[p.Trp261Arg];': [2408], 'Figure': [2409, 2912, 3235, 3253, 3401, 3505, 3508, 3512, 3723], '4A)': [2410, 3912], 'maternally': [2415], 'inherited.Independently,': [2416], 'isolated': [2418], 'mutant': [2420, 2567, 2593, 2613, 2617, 2645, 2922, 3314, 3481, 3499, 3528, 3543, 3560], 'line': [2422], 'yeti': [2423, 2489, 2519, 2566, 2586, 2600, 2629, 2644, 2921, 2961, 3244], 'ENU': [2427], 'mutagenesis': [2428], 'development.': [2434], 'Mutant': [2435], 'embryos': [2436, 2483, 2587, 2614, 3217], 'before': [2438, 3083, 3124, 3287, 3607], 'late': [2439], 'day': [2440], '12.5': [2441], 'postcoitum': [2442], '(12.5': [2443], 'dpc)': [2444], 'exhibit': [2446], 'They': [2452], 'cardiovascular': [2454], 'generalized': [2457], 'edema,': [2458], 'hemorrhages,': [2459], 'randomized': [2462, 2469], 'mislooped': [2464], 'tube.': [2466], 'Delayed': [2467], 'turning': [2471], 'observed,': [2474], 'polysyndactlyly': [2476], 'seen': [2478], 'rare,': [2480], 'surviving,': [2481], 'later-stage': [2482], '1I': [2485], '1J).': [2487], 'Additionally,': [2488], 'mutants': [2490, 3664], 'failure': [2492, 2664], 'somite': [2495, 2670], 'derivatives,': [2496], 'putative': [2499], 'ribs,': [2500, 2677], 'migrate': [2502], 'properly': [2504], 'differentiate': [2505], '1K),': [2507], 'hypoplastic': [2508], 'lungs': [2509], 'tracheal-esophageal': [2511], 'fistula,': [2512], 'diaphragmatic': [2514], 'hernia.': [2515], '3.5': [2523], 'interval': [2525], 'rs6278243': [2527], 'rs29154438': [2529], '12': [2532], 'undertook': [2534, 3825], 'genomic': [2535], 'candidate': [2538], 'genes.': [2539], 'single': [2541, 3647, 3714], 'G>A': [2542], 'splice': [2548, 2594], 'acceptor': [2549], 'site': [2550], '22': [2553], '1E;': [2557], 'chr12:9026683,': [2558], 'ENSMUST00000085745,': [2559], 'NCBIM37).': [2560], 'RT-PCR': [2561], 'litters': [2568], 'using': [2569], 'primers': [2570], 'adjacent': [2573], 'exons': [2574], 'aberrant': [2576], 'splicing': [2577], '1L).': [2589], 'Sequencing': [2590], 'revealed': [2596, 2615], 'frameshifts': [2597], 'all': [2599, 3922], 'transcripts.': [2601], 'situ': [2603], 'hybridization': [2604], '5′': [2606], '3′': [2608], 'UTR': [2609], 'riboprobes': [2611], 'transcripts': [2618], 'subject': [2620], 'nonsense-mediated': [2622], 'decay': [2623], '1M).': [2625], 'Noncomplementation': [2626], 'allele': [2630, 2638, 3248], 'embryonic-stem-cell-derived': [2633], '"targeted': [2634], 'trap"': [2635], 'null': [2636, 3247], 'tm2a': [2637], 'proves': [2641], 'point': [2651], 'S2).': [2656], 'phenotypic': [2658], 'parallels,': [2659], 'migration': [2666], 'differentiation': [2668], 'derivatives': [2671], 'leading': [2672], 'absent': [2674, 3467], 'shortened': [2676], 'strongly': [2678], 'suggest': [2679, 2956, 2982], 'WDR35,': [2685], 'like': [2686], 'mutations,': [2689], 'complete': [2693], 'function.Little': [2696], 'functionally': [2698], 'about': [2700], 'aside': [2703], 'its': [2705], 'biochemical': [2706], 'association': [2707], 'components,26Mukhopadhyay': [2711], 'so': [2752], 'cellular': [2756, 3410], 'vivo': [2759], 'Initially,': [2763], 'generated': [2765, 2832], 'full-length': [2767, 3074], 'tagged': [2771], 'GFP': [2773], 'expressed': [2775], 'cultured': [2778, 3669], 'Significant': [2780], 'staining': [2781, 2863, 2894, 3302, 3493], 'periciliary': [2786], 'NIH': [2790, 3013], '3T3': [2791, 3014], 'cells,': [2792, 2804, 2859, 3561], 'partial': [2795], 'colocalization': [2796], 'γ-tubulin': [2798, 3089, 3298, 3307, 3626, 3680, 3693], '2A': [2800], 'IMCD3': [2803, 2844, 3068, 3116], 'prominent': [2808, 3489], 'cilia,': [2809, 2883, 3416, 3529], 'Wdr35::GFP': [2810, 3076], 'detected': [2813], 'axonemes,': [2817], 'colocalized': [2820], 'acetylated': [2822, 3092, 3130, 3167, 3223, 3440, 3491, 3616, 3683], 'α-tubulin': [2823, 3093, 3131, 3168, 3224, 3441, 3492, 3617, 3684], '2B).': [2825], 'To': [2826, 2992], 'examine': [2827], 'localization,': [2830], 'antibodies': [2835, 3086, 3127, 3164, 3220, 3290, 3610, 3677], 'directed': [2836, 3087, 3128, 3165, 3221, 3291, 3611, 3678], 'against': [2837, 3088, 3129, 3166, 3222, 3292, 3339, 3612, 3679], 'different,': [2838], 'unique': [2839], 'epitopes.': [2840], 'Immunofluorescence': [2841, 2872], 'studies': [2842], 'cells': [2845, 3015, 3021, 3041, 3070, 3117, 3271, 3334, 3361, 3500, 3587], 'accumulated': [2849], 'around': [2852, 3568], 'bodies': [2856, 3572], 'serum-starved': [2858], 'fainter': [2861], 'punctate': [2862], '2C': [2869], '2D).': [2871], 'wild-type': [2875, 3212, 3373], 'sections': [2877, 3160], 'labeled': [2878], 'centrosomes,': [2887], 'embryo.': [2890], 'intensity': [2892], 'enriched': [2896], 'ciliated': [2899, 3040, 3188, 3360], 'tissues,': [2900], 'lung': [2904], 'nervous': [2906], 'system': [2907], '2E': [2909], '2F,': [2911], 'S4).': [2913], 'Importantly,': [2914], 'lost': [2919], 'sections,': [2923], 'limb': [2928], 'bud': [2929], 'mesenchyme': [2930, 3185, 3210], '11.5': [2932, 3207, 3655], 'dpc': [2933, 3152, 3208, 3656], '2G': [2935], '2H).': [2937], 'Likewise,': [2938], 'had': [2942], 'only': [2943], 'remnant': [2944], '2I': [2950], '2J).': [2952], 'Collectively,': [2953], 'data': [2955, 2981], 'loss-of-function': [2963], 'alleles': [2964], 'Given': [2967], "WDR35's": [2968], 'subcellular': [2969], 'gross': [2973], 'mutants,': [2979], 'our': [2980], 'independently': [2993], 'verify': [2994], 'used': [3002, 4228], 'siRNA': [3004, 3046, 3325, 3350], 'strategy': [3005], 'knock': [3007], 'down': [3008, 3369], 'quantified': [3017], 'Reduction': [3024], 'levels': [3028, 3345, 3374], '85%': [3030], 'resulted': [3031], '50%': [3034, 3354], 'reduction': [3035, 3355], 'compared': [3042, 3503, 3510], 'scrambled': [3045], 'control': [3047, 3274, 3312, 3460, 3590, 3657], '2K': [3049], '2L).Figure': [3051], '2Wdr35': [3052], 'Localizes': [3053], 'Is': [3057, 3578], 'Required': [3058, 3579], 'CiliogenesisShow': [3060, 3582], 'full': [3061, 3583], 'caption(A': [3062], 'B)': [3064, 3593], 'NIH-3T3': [3065], '(A)': [3066, 3090], '(B)': [3069], 'microporated': [3072], 'serum': [3078, 3119, 3282, 3602, 3671], 'starved': [3079, 3120, 3283, 3603, 3672], '36': [3081, 3122], 'hr': [3082, 3123, 3286, 3606], 'costaining': [3084, 3125, 3288, 3608], '(red;': [3094, 3135], 'B).': [3095], 'Nuclei': [3096, 3142, 3175, 3316, 3631, 3698], 'stained': [3098, 3144, 3177, 3218, 3318, 3633, 3700], 'DAPI': [3100, 3146, 3320, 3635, 3702], '(blue).': [3101, 3180, 3232, 3636, 3703], 'Magnification': [3102], 'regions': [3104], 'interest': [3106], 'singl-channel': [3110], 'images': [3111, 3202], 'indicating': [3112], 'colocalization.(C': [3113], 'D)': [3115, 3600], '(green)': [3132, 3169, 3614, 3624, 3681, 3691], 'C,': [3136], '085': [3137, 3173], 'antibody;': [3138], 'D,': [3139], '02': [3140, 3295], 'antibody).': [3141, 3174], '(blue).(E': [3147], 'F)': [3149, 3661], 'Wild-type': [3150], '13.5': [3151], '(E)': [3155, 3186], 'choroid': [3157], 'plexus': [3158], '(F)': [3159, 3192], 'costained': [3162, 3675], '(red,': [3172], 'TOTO-3': [3179, 3231], 'Primary': [3181, 3269, 3585, 3649], 'epithelia': [3189], 'lining': [3190], 'lumen': [3191], 'indicated.(G': [3194], 'H)': [3196, 3667], 'Shown': [3197], '0.4': [3199], 'μm': [3200], 'confocal': [3201], 'section': [3204], 'immunohistochemistry': [3205], 'limb-bud': [3209], '(G)': [3213], 'Wdr35yet/yet': [3215, 3663], '(H)': [3216], '(green),': [3225], '(085': [3227], 'antibody:': [3228], 'red),': [3229], 'See': [3233, 3251], 'S3E': [3236], 'support,': [3239], 'immunoblot': [3241], 'Wdr35.': [3250, 3340], '4': [3254], 'preadsorbtion': [3256], 'peptide': [3258], 'demonstration': [3260], 'specificity': [3263], 'antibody': [3265], 'studies.(I': [3266], 'J)': [3268], 'fibroblast': [3270, 3586], '(I)': [3275], 'WDR35Δ5/Δ5': [3277, 3595], '(J)': [3280], '36–48': [3285, 3605], '(green,': [3294], 'antibody)': [3296], '(red).': [3299], 'Fainter,': [3300], 'nonspecific': [3301], 'microtubules': [3305], 'fibroblasts.': [3315, 3544], '(blue).(K': [3321], 'L)': [3323], 'knockdown': [3326], 'leads': [3327], 'reduced': [3329, 3344], 'formation.': [3331], 'ShhLIGHT': [3332], 'transfected': [3336], 'siRNAs': [3338], 'qRT-PCR': [3341], 'shows': [3342], 'significantly': [3343], 'after': [3349], 'treatment': [3351], '(K).': [3352], 'knocked': [3368], '15%': [3371], '(L).': [3375], 'Negative:': [3376], 'scramble': [3377], 'siRNA;': [3378], '∗∗∗p': [3379], '<': [3380, 3383], '0.001;': [3381], '∗∗p': [3382], '0.01': [3384], '(Chi-squared).': [3385], 'Bars': [3386], 'represent': [3387], 'standard': [3388], 'deviations.': [3389], 'Statistical': [3390], 'significance': [3391], 'determined': [3393], 'via': [3394, 3490], "Student's": [3396], 't': [3397], 'test.View': [3398], 'Large': [3399, 3721], 'Image': [3400, 3722], 'ViewerDownload': [3402, 3724], 'Hi-res': [3403, 3725], 'image': [3404, 3726], 'Download': [3405, 3727], '(PPT)To': [3406], 'better': [3407], 'characterize': [3408], 'analyzed': [3418], '3A–3D': [3424], ')': [3425], '3E–3K)': [3429], 'mutants.': [3433], 'axonemes': [3435], 'clearly': [3437], 'detectable': [3438], 'staining,': [3442], 'marker': [3444], 'stabilized': [3446], 'microtubules,': [3447], '3A': [3451, 3506], '3B)': [3453], '3E': [3457], '3F)': [3459], 'However,': [3462, 3927], 'structures': [3464, 3556], 'completely': [3466], '3C': [3472, 3502], '3D)': [3474], '3G': [3478, 3509], '3H)': [3480], 'Instead,': [3483], 'extended': [3484, 4259], 'perinuclear': [3485], 'microtubule': [3486], 'arrays': [3487], '3E).': [3513], 'Because': [3514], 'accumulation': [3522], 'examined': [3531], 'B': [3536, 3973], 'IFT88': [3538, 3566, 3613, 3623, 3690], '600595)': [3540], 'Consistent': [3545], 'functional': [3548, 3935], 'trains,': [3553], 'cilia-like': [3555], 'remained': [3557], 'restricted': [3565], 'γ-tubulin-positive': [3570], '3D': [3574], '3H).Figure': [3576], '3Wdr35': [3577], 'Mammalian': [3581], 'caption(A–D)': [3584], '(A': [3591, 3619], '(C': [3598], '(red)': [3618, 3627, 3685, 3694], 'C)': [3621], '(B': [3628], 'D).': [3630], 'Inserts': [3637, 3704], 'higher': [3639], 'magnification': [3640, 3707], 'individual': [3642, 3709], 'merged': [3645, 3712], 'channels.(E–H)': [3648], 'derived': [3653], 'Wdr35+/+': [3658], '(E': [3659, 3686], '(G': [3665], 'then': [3674], 'G)': [3688], '(F': [3695], 'H).': [3697], 'high': [3706, 4216], 'channels.': [3715], 'Scale': [3716], 'bar': [3717], 'represents': [3718], '10': [3719], 'μm.View': [3720], '(PPT)Clinical': [3728], 'distinction': [3729], 'syndromes': [3731], 'could': [3737], 'differences': [3741, 3932], 'degrees': [3744], 'disruption': [3746], 'and/or': [3750], 'function,': [3751], 'different': [3756], 'gene.': [3761], 'subset': [3770], 'syndrome/CED.14Gilissen': [3775], 'Therefore,': [3823], 'modeling': [3827, 3929], 'predicted': [3833, 4243], 'gain': [3837], 'insight': [3839], 'genetics': [3843], '4).': [3849], 'All': [3850], 'date': [3858], 'Sensenbrenner14Gilissen': [3861], 'residues,': [3917], 'suggesting': [3918], 'they': [3920], 'likely': [3923], 'pathogenic.': [3926], 'reveals': [3930], 'striking': [3931], 'consequences': [3936], 'versus': [3943], 'cases.': [3946], 'configuration': [3949], 'N-terminal': [3951, 4172], 'C-terminal': [3955], 'repeat': [3957], '(TPR)-like': [3958], 'motifs': [3959], '1E)': [3964], 'proteins.24Avidor-Reiss': [3974], 'WD40/WD40-like': [4013], 'binding.24Avidor-Reiss': [4023], 'shared': [4084], 'coat': [4087, 4169], 'COPI,': [4089, 4193], 'COPII,': [4090, 4194], 'clathrin,': [4092], 'vesicle': [4097, 4197], 'trafficking,24Avidor-Reiss': [4098], '28Jékely': [4136], 'Arendt': [4138], 'Evolution': [4140], 'coated': [4145], 'vesicles': [4146], 'autogenous': [4148], 'origin': [4149], 'eukaryotic': [4152], 'cilium.Bioessays.': [4153], '28:': [4155], '191-198Crossref': [4156], '(176)': [4159], 'proteins,': [4170], 'WD40-like': [4173, 4254], 'β-propeller': [4174], 'cage': [4179, 4187], 'formation.29Lee': [4180], 'Goldberg': [4182], 'Structure': [4184], 'coatomer': [4186], 'relationship': [4191], 'clathrin': [4196], 'coats.Cell.': [4198], '142:': [4200], '123-132Abstract': [4201], '(140)': [4209], 'Taking': [4212], 'advantage': [4213], 'secondary-structure': [4217], 'yeast': [4225], 'β′-COP29,': [4226], 'structure-prediction': [4229], 'algorithms': [4230], 'model': [4234, 4268], 'S6).': [4240], 'fold': [4245], 'seven-bladed': [4248], 'β-propellers,': [4249], 'each': [4250], 'offset': [4253], 'repeat,': [4255], 'followed': [4256], 'TPR-containing': [4260], 'α-solenoid': [4261], 'domain': [4262], '4B': [4264], '4C).': [4266], 'highlights': [4269], 'consequen': [4271]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2113929186', 'counts_by_year': [{'year': 2024, 'cited_by_count': 4}, {'year': 2023, 'cited_by_count': 6}, {'year': 2022, 'cited_by_count': 3}, {'year': 2021, 'cited_by_count': 7}, {'year': 2020, 'cited_by_count': 10}, {'year': 2019, 'cited_by_count': 4}, {'year': 2018, 'cited_by_count': 5}, {'year': 2017, 'cited_by_count': 12}, {'year': 2016, 'cited_by_count': 12}, {'year': 2015, 'cited_by_count': 16}, {'year': 2014, 'cited_by_count': 13}, {'year': 2013, 'cited_by_count': 9}, {'year': 2012, 'cited_by_count': 19}], 'updated_date': '2025-01-16T20:25:08.474870', 'created_date': '2016-06-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
