Publication Information

{'id': 'https://openalex.org/W3146120012', 'doi': 'https://doi.org/10.1111/bjd.20089', 'title': 'Additional causal <i>SNRPE</i> mutations in hereditary hypotrichosis simplex', 'display_name': 'Additional causal <i>SNRPE</i> mutations in hereditary hypotrichosis simplex', 'publication_year': 2021, 'publication_date': '2021-04-01', 'ids': {'openalex': 'https://openalex.org/W3146120012', 'doi': 'https://doi.org/10.1111/bjd.20089', 'mag': '3146120012', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/33792916'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/bjd.20089', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S45720283', 'display_name': 'British Journal of Dermatology', 'issn_l': '0007-0963', 'issn': ['0007-0963', '1365-2133'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'letter', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://repository.uantwerpen.be/docstore/d:irua:6761', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5056588504', 'display_name': 'Pan Cheng', 'orcid': 'https://orcid.org/0000-0002-9093-5066'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'C. Pan', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068341028', 'display_name': 'Aytaj Humbatova', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2799391451', 'display_name': 'University Hospital Bonn', 'ror': 'https://ror.org/01xnwqx93', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799391451']}, {'id': 'https://openalex.org/I135140700', 'display_name': 'University of Bonn', 'ror': 'https://ror.org/041nas322', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I135140700']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'A. Humbatova', 'raw_affiliation_strings': ['Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany', 'institution_ids': ['https://openalex.org/I2799391451', 'https://openalex.org/I135140700']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037574191', 'display_name': 'Lan Zheng', 'orcid': 'https://orcid.org/0000-0001-8230-577X'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'L. Zheng', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027698133', 'display_name': 'Nicole Cesarato', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2799391451', 'display_name': 'University Hospital Bonn', 'ror': 'https://ror.org/01xnwqx93', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799391451']}, {'id': 'https://openalex.org/I135140700', 'display_name': 'University of Bonn', 'ror': 'https://ror.org/041nas322', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I135140700']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'N. Cesarato', 'raw_affiliation_strings': ['Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany', 'institution_ids': ['https://openalex.org/I2799391451', 'https://openalex.org/I135140700']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103134357', 'display_name': 'Clemens Grimm', 'orcid': 'https://orcid.org/0000-0001-9085-5130'}, 'institutions': [{'id': 'https://openalex.org/I25974101', 'display_name': 'University of Würzburg', 'ror': 'https://ror.org/00fbnyb24', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I25974101']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'C. Grimm', 'raw_affiliation_strings': ['Department of Biochemistry University of Würzburg Würzburg Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry University of Würzburg Würzburg Germany', 'institution_ids': ['https://openalex.org/I25974101']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002600643', 'display_name': 'Fuyao Chen', 'orcid': 'https://orcid.org/0009-0001-4114-5973'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'F. Chen', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5047689168', 'display_name': 'Bettina Blaumeiser', 'orcid': 'https://orcid.org/0000-0001-9993-7319'}, 'institutions': [{'id': 'https://openalex.org/I149213910', 'display_name': 'University of Antwerp', 'ror': 'https://ror.org/008x57b05', 'country_code': 'BE', 'type': 'education', 'lineage': ['https://openalex.org/I149213910']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'B. Blaumeiser', 'raw_affiliation_strings': ['Department of Medical Genetics, University of Antwerp, Antwerp, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of Antwerp, Antwerp, Belgium', 'institution_ids': ['https://openalex.org/I149213910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024184355', 'display_name': 'Ana Catalán-Lambán', 'orcid': 'https://orcid.org/0009-0001-9159-7038'}, 'institutions': [{'id': 'https://openalex.org/I4210135003', 'display_name': 'Clinica Universidad de Navarra', 'ror': 'https://ror.org/03phm3r45', 'country_code': 'ES', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210135003']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'A. Catalán‐Lambán', 'raw_affiliation_strings': ['Department of Pediatrics Clínica Universidad de Navarra Pamplona Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics Clínica Universidad de Navarra Pamplona Spain', 'institution_ids': ['https://openalex.org/I4210135003']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000183191', 'display_name': 'Ana Patiño‐García', 'orcid': 'https://orcid.org/0000-0002-4066-8203'}, 'institutions': [{'id': 'https://openalex.org/I4210135003', 'display_name': 'Clinica Universidad de Navarra', 'ror': 'https://ror.org/03phm3r45', 'country_code': 'ES', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210135003']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'A. Patiño‐García', 'raw_affiliation_strings': ['Department of Pediatrics Clínica Universidad de Navarra Pamplona Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics Clínica Universidad de Navarra Pamplona Spain', 'institution_ids': ['https://openalex.org/I4210135003']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5012562828', 'display_name': 'Utz Fischer', 'orcid': 'https://orcid.org/0000-0002-1465-6591'}, 'institutions': [{'id': 'https://openalex.org/I25974101', 'display_name': 'University of Würzburg', 'ror': 'https://ror.org/00fbnyb24', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I25974101']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'U. Fischer', 'raw_affiliation_strings': ['Department of Biochemistry University of Würzburg Würzburg Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry University of Würzburg Würzburg Germany', 'institution_ids': ['https://openalex.org/I25974101']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027984328', 'display_name': 'Ruhong Cheng', 'orcid': 'https://orcid.org/0000-0002-5613-3924'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'R. Cheng', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029017871', 'display_name': 'Y Li', 'orcid': 'https://orcid.org/0009-0008-1882-1938'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Y. Li', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101801973', 'display_name': 'Xia Yu', 'orcid': 'https://orcid.org/0000-0001-5078-7962'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'X. Yu', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100616393', 'display_name': 'Zhirong Yao', 'orcid': 'https://orcid.org/0000-0003-0785-8985'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Z. Yao', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100351519', 'display_name': 'Ming Li', 'orcid': 'https://orcid.org/0000-0003-3053-2756'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}, {'id': 'https://openalex.org/I183067930', 'display_name': 'Shanghai Jiao Tong University', 'ror': 'https://ror.org/0220qvk04', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183067930']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'M. Li', 'raw_affiliation_strings': ['Center for Rare Diseases Diagnosis, Shanghai, China', 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai, China', 'institution_ids': ['https://openalex.org/I2801518579']}, {'raw_affiliation_string': 'Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}, {'raw_affiliation_string': 'Center for Rare Diseases Diagnosis, Shanghai, China', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5038633678', 'display_name': 'Regina C. Betz', 'orcid': 'https://orcid.org/0000-0001-5024-3623'}, 'institutions': [{'id': 'https://openalex.org/I2799391451', 'display_name': 'University Hospital Bonn', 'ror': 'https://ror.org/01xnwqx93', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799391451']}, {'id': 'https://openalex.org/I135140700', 'display_name': 'University of Bonn', 'ror': 'https://ror.org/041nas322', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I135140700']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'R.C. Betz', 'raw_affiliation_strings': ['Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany', 'institution_ids': ['https://openalex.org/I2799391451', 'https://openalex.org/I135140700']}]}], 'institution_assertions': [], 'countries_distinct_count': 4, 'institutions_distinct_count': 7, 'corresponding_author_ids': ['https://openalex.org/A5100351519', 'https://openalex.org/A5038633678'], 'corresponding_institution_ids': ['https://openalex.org/I2801518579', 'https://openalex.org/I183067930', 'https://openalex.org/I2799391451', 'https://openalex.org/I135140700'], 'apc_list': {'value': 3416, 'currency': 'GBP', 'value_usd': 4190, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 4, 'citation_normalized_percentile': {'value': 0.998946, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 76, 'max': 78}, 'biblio': {'volume': '185', 'issue': '2', 'first_page': '439', 'last_page': '441'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9991, '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'}}, 'topics': [{'id': 'https://openalex.org/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9991, '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/T11167', 'display_name': 'Hair Growth and Disorders', 'score': 0.9989, 'subfield': {'id': 'https://openalex.org/subfields/2748', 'display_name': 'Urology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10604', 'display_name': 'RNA Research and Splicing', 'score': 0.9972, '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/hypotrichosis', 'display_name': 'Hypotrichosis', 'score': 0.57296944}, {'id': 'https://openalex.org/keywords/body-hair', 'display_name': 'Body hair', 'score': 0.5642178}, {'id': 'https://openalex.org/keywords/girl', 'display_name': 'Girl', 'score': 0.49112985}], 'concepts': [{'id': 'https://openalex.org/C2778515351', 'wikidata': 'https://www.wikidata.org/wiki/Q9622', 'display_name': 'Scalp', 'level': 2, 'score': 0.64639914}, {'id': 'https://openalex.org/C2778102086', 'wikidata': 'https://www.wikidata.org/wiki/Q2697787', 'display_name': 'Hypotrichosis', 'level': 3, 'score': 0.57296944}, {'id': 'https://openalex.org/C2777918589', 'wikidata': 'https://www.wikidata.org/wiki/Q2167872', 'display_name': 'Body hair', 'level': 2, 'score': 0.5642178}, {'id': 'https://openalex.org/C16005928', 'wikidata': 'https://www.wikidata.org/wiki/Q171171', 'display_name': 'Dermatology', 'level': 1, 'score': 0.54957545}, {'id': 'https://openalex.org/C2778047097', 'wikidata': 'https://www.wikidata.org/wiki/Q3031', 'display_name': 'Girl', 'level': 2, 'score': 0.49112985}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.4719982}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.33026445}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.26042804}, {'id': 'https://openalex.org/C105702510', 'wikidata': 'https://www.wikidata.org/wiki/Q514', 'display_name': 'Anatomy', 'level': 1, 'score': 0.2078793}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.1903544}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.109895796}], 'mesh': [{'descriptor_ui': 'D007039', 'descriptor_name': 'Hypotrichosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007039', 'descriptor_name': 'Hypotrichosis', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055517', 'descriptor_name': 'snRNP Core Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/bjd.20089', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S45720283', 'display_name': 'British Journal of Dermatology', 'issn_l': '0007-0963', 'issn': ['0007-0963', '1365-2133'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://hdl.handle.net/10067/1789630151162165141', 'pdf_url': 'https://repository.uantwerpen.be/docstore/d:irua:6761', 'source': {'id': 'https://openalex.org/S4306401849', 'display_name': 'Institutional Repository University of Antwerp (University of Antwerp)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I149213910', 'host_organization_name': 'University of Antwerp', 'host_organization_lineage': ['https://openalex.org/I149213910'], 'host_organization_lineage_names': ['University of Antwerp'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/33792916', '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://hdl.handle.net/10067/1789630151162165141', 'pdf_url': 'https://repository.uantwerpen.be/docstore/d:irua:6761', 'source': {'id': 'https://openalex.org/S4306401849', 'display_name': 'Institutional Repository University of Antwerp (University of Antwerp)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I149213910', 'host_organization_name': 'University of Antwerp', 'host_organization_lineage': ['https://openalex.org/I149213910'], 'host_organization_lineage_names': ['University of Antwerp'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [{'funder': 'https://openalex.org/F4320320879', 'funder_display_name': 'Deutsche Forschungsgemeinschaft', 'award_id': '390873048'}], 'datasets': [], 'versions': [], 'referenced_works_count': 3, 'referenced_works': ['https://openalex.org/W1966507173', 'https://openalex.org/W2068350139', 'https://openalex.org/W2982462899'], 'related_works': ['https://openalex.org/W4200203742', 'https://openalex.org/W3199817509', 'https://openalex.org/W3175817117', 'https://openalex.org/W3093576479', 'https://openalex.org/W2614501449', 'https://openalex.org/W2204116490', 'https://openalex.org/W2082560685', 'https://openalex.org/W2075311330', 'https://openalex.org/W2019942019', 'https://openalex.org/W1756775206'], 'abstract_inverted_index': {'Dear': [0], 'Editor,': [1], 'Hereditary': [2], 'hypotrichosis': [3, 362], 'simplex': [4], '(HHS)': [5], 'refers': [6], 'to': [7, 75, 173, 294, 384, 421, 643, 651, 668, 701], 'a': [8, 179, 190, 216, 231, 305, 323, 340, 352, 405, 430, 484, 546, 669, 705, 713], 'group': [9, 71], 'of': [10, 20, 98, 127, 131, 141, 154, 157, 192, 209, 221, 233, 285, 336, 370, 429, 450, 465, 487, 517, 592, 597, 602, 660, 685, 722, 750], 'monogenic': [11, 254], 'isolated': [12], 'alopecias': [13], 'characterized': [14], 'by': [15, 123, 271, 387], 'diffuse': [16], 'and': [17, 29, 41, 46, 109, 134, 159, 189, 194, 197, 218, 227, 269, 322, 339, 495, 504, 718, 737, 747, 756, 762], 'progressive': [18, 219], 'loss': [19, 220], 'scalp': [21, 39, 187], 'and/or': [22], 'body': [23, 52, 234], 'hair.': [24], 'They': [25], 'start': [26, 515], 'in': [27, 102, 114, 149, 265, 281, 310, 319, 328, 333, 378, 389, 400, 411, 471, 525, 535, 543, 568, 579, 619, 634, 707, 712, 741, 764], 'childhood': [28], 'progress': [30], 'with': [31, 37, 151, 185, 356, 492, 523, 699, 715], 'age.': [32], 'Affected': [33], 'individuals': [34], 'typically': [35], 'present': [36, 318, 470, 581, 724], 'sparse-to-absent': [38], 'hair,': [40, 53, 188], 'may': [42, 647], 'have': [43, 89, 558], 'brittle': [44, 195], 'eyebrows': [45, 198, 226, 497], 'eyelashes,': [47], 'as': [48, 50, 78], 'well': [49], 'sparse': [51, 186, 493], 'without': [54], 'any': [55], 'characteristic': [56], 'hair': [57, 222, 235, 494, 702], 'shaft': [58], 'anomalies.': [59], 'HHS': [60, 524], 'research': [61], 'has': [62], 'identified': [63, 268, 280, 533, 711, 732], 'several': [64], 'causal': [65], 'genes.1,': [66], '2': [67], 'In': [68, 288, 438], '2012,': [69], 'our': [70, 526, 562], 'was': [72, 121, 163, 236, 250, 267, 278, 469, 521, 575, 617, 709], 'the': [73, 96, 124, 128, 152, 155, 166, 207, 212, 224, 243, 296, 302, 311, 320, 374, 388, 401, 424, 427, 435, 443, 451, 456, 466, 475, 509, 514, 569, 580, 584, 593, 598, 606, 620, 626, 638, 658, 682, 689, 692, 723, 745, 754], 'first': [74, 176], 'identify': [76], 'SNRPE': [77, 103, 266, 329, 544, 697, 708], 'an': [79, 661], 'underlying': [80, 244], 'gene': [81], 'for': [82, 252, 759], 'HHS.3': [83], 'Since': [84], 'then,': [85], 'no': [86, 555], 'further': [87, 99], 'cases': [88, 557, 570, 725], 'been': [90, 559], 'reported.': [91], 'However,': [92, 636], 'we': [93, 532, 623], 'now': [94], 'report': [95], 'identification': [97], 'heterozygous': [100, 735], 'mutations': [101, 108, 468, 534, 542], '(NM_003094)': [104], '–': [105, 113], 'two': [106, 693, 733], 'novel': [107, 467, 734], 'one': [110, 591, 738], 'known': [111, 739], 'mutation': [112, 277, 303, 395, 510, 706], 'three': [115, 536], 'ethnically': [116, 537], 'diverse': [117, 538], 'cases.': [118], 'This': [119, 299, 380, 519, 730, 743], 'study': [120, 145, 731], 'approved': [122], 'ethics': [125], 'committees': [126], 'University': [129, 139], 'Hospital': [130], 'Bonn,': [132], 'Germany,': [133], 'Xinhua': [135], 'Hospital,': [136], 'Shanghai': [137], 'Jiaotong': [138], 'School': [140], 'Medicine,': [142], 'China.': [143], 'All': [144], 'procedures': [146], 'were': [147, 292, 642], 'performed': [148, 251], 'accordance': [150], 'principles': [153], 'Declaration': [156], 'Helsinki,': [158], 'written': [160], 'informed': [161], 'consent': [162], 'obtained': [164], 'from': [165, 206, 223], 'respective': [167], 'patient': [168, 714], 'or': [169, 474, 688], 'legal': [170], 'guardian': [171], 'prior': [172], 'inclusion.': [174], 'The': [175, 276, 348, 394, 409, 480, 529], 'case': [177, 350, 482], 'concerned': [178, 351, 483], '6-year-old': [180], 'Chinese': [181, 286], 'girl,': [182], 'who': [183], 'presented': [184, 491], 'history': [191], 'short': [193], 'eyelashes': [196], 'since': [199, 363, 561], 'birth.': [200], 'Her': [201], 'healthy': [202, 357], 'parents': [203], 'reported': [204, 560], 'that,': [205], 'age': [208], '1·5': [210], 'years,': [211], 'girl': [213], 'had': [214, 360], 'experienced': [215], 'pronounced': [217], 'scalp,': [225], 'eyelashes.': [228], 'On': [229], 'examination,': [230], 'paucity': [232], 'observed': [237, 567], '(Figure': [238, 274, 365, 462, 498], '1a,': [239, 366, 499], 'left).': [240], 'To': [241], 'determine': [242], 'genetic': [245], 'cause,': [246], 'multigene': [247], 'panel': [248], 'sequencing': [249, 273, 369, 502, 507], '596': [253], 'skin': [255], 'disease': [256], 'genes.': [257], 'A': [258], 'de': [259, 406], 'novo': [260, 407], 'splice': [261, 308, 326, 585, 600, 609], 'site': [262, 309, 327, 586, 601, 610], 'variant': [263, 376, 381, 520], 'c.54+2T>A': [264, 588], 'confirmed': [270], 'Sanger': [272, 368, 506], '1b).': [275], 'not': [279, 397], '200': [282], 'control': [283], 'chromosomes': [284], 'origin.': [287, 489], 'vitro': [289], 'hybrid': [290], 'mini-genes': [291], 'constructed': [293], 'investigate': [295], 'splicing': [297], 'effect.': [298], 'revealed': [300, 373, 508], 'that': [301, 531, 541, 554, 572, 628, 681], 'activates': [304], 'new': [306, 324], 'donor': [307], 'enhanced': [312], 'green': [313], 'fluorescent': [314], 'protein': [315, 422, 666], 'coding': [316], 'sequence': [317], 'vector': [321, 621], 'acceptor': [325], 'intron': [330, 342, 603], '1,': [331], 'resulting': [332], 'complete': [334], 'skipping': [335], 'exon': [337, 614], '1': [338, 343, 615], 'partial': [341], '(14': [344], 'base': [345], 'pair)': [346], 'retention.': [347], 'second': [349], '2·5-year-old': [353], 'Spanish': [354], 'boy': [355], 'parents.': [358], 'He': [359], 'displayed': [361], 'birth': [364], 'middle).': [367], 'HHS-associated': [371], 'genes': [372], 'missense': [375], 'c.221T>C;p.(Leu74Pro)': [377], 'SNRPE.': [379, 518, 742], 'is': [382, 414, 448, 551, 631], 'predicted': [383], 'be': [385, 398, 460, 644, 648], 'pathogenic': [386], 'silico': [390], 'tool': [391], 'MutationTaster': [392], '(http://www.mutationtaster.org/).': [393], 'could': [396], 'detected': [399], 'parents,': [402], 'thus': [403, 455, 552], 'indicating': [404], 'status.': [408], 'leucine': [410], 'position': [412], '74': [413], 'highly': [415], 'conserved': [416, 595], 'across': [417], 'animal': [418], 'species.': [419], 'According': [420], 'modelling,': [423], 'proline': [425], 'at': [426, 571], 'end': [428], 'beta': [431, 445, 453], 'strand': [432], 'would': [433, 441, 459], 'affect': [434, 442], 'adjacent': [436, 444], 'loop.': [437], 'turn,': [439], 'this': [440, 765], 'strand,': [446], 'which': [447, 512, 612], 'part': [449], 'interdomain': [452], 'leaflet,': [454], 'SmE–SmF': [457], 'interface': [458], 'disturbed': [461], '1d).': [463], 'Neither': [464], 'dbSNP': [472], '(http://www.ncbi.nlm.nih.gov/projects/SNP/)': [473], '1000': [476], 'Genomes': [477], 'database': [478], '(https://www.internationalgenome.org/index.html).': [479], 'third': [481], '21-year-old': [485], 'woman': [486], 'Turkish': [488], 'She': [490], 'absent': [496], 'right).': [500], 'Exome': [501], 'analysis': [503, 793], 'subsequent': [505], 'c.1A>G;p.(Met1?),': [511], 'affects': [513, 590], 'codon': [516], 'associated': [522], 'original': [527, 563], 'study.3': [528], 'fact': [530], 'families': [539, 758], 'suggests': [540], 'are': [545], 'relatively': [547], 'frequent': [548], 'occurrence.': [549], 'It': [550], 'surprising': [553], 'additional': [556], 'publication.3': [564], 'As': [565, 605], 'also': [566], 'time,': [573], 'there': [574], 'wide': [576], 'phenotypic': [577], 'variation': [578], 'ones.': [582], 'Concerning': [583], 'mutation,': [587, 740], 'directly': [589], 'most': [594], 'nucleotides': [596], '5′': [599], '1.': [604], 'newly': [607], 'activated': [608], 'donor,': [611], 'allows': [613], 'skipping,': [616], 'found': [618], 'sequence,': [622], 'cannot': [624], 'exclude': [625], 'possibility': [627], 'another': [629], 'mechanism': [630], 'taking': [632], 'place': [633], 'vivo.': [635], 'if': [637], 'described': [639], 'aberrant': [640], 'transcript': [641], 'produced,': [645], 'it': [646], 'either': [649, 727], 'subjected': [650], 'RNA': [652], 'decay': [653], 'or,': [654], 'more': [655], 'likely,': [656], 'allow': [657], 'production': [659], 'in-frame': [662], '52': [663], 'amino': [664], 'acid-long': [665], 'corresponding': [667], 'different': [670], 'small': [671], 'nuclear': [672], 'ribonucleoprotein': [673], 'polypeptide': [674], 'E': [675], '(SNRPE)': [676], 'isoform': [677], '(ENST00000367208·1).': [678], 'We': [679, 752], 'suggest': [680], 'lower': [683], 'expression': [684], 'wild-type': [686], 'protein,': [687], 'imbalance': [690], 'between': [691], 'isoforms,': [694], 'impacts': [695], 'on': [696], 'function': [698], 'respect': [700], 'growth/development.3': [703], 'Interestingly,': [704], 'recently': [710], 'primary': [716], 'microcephaly': [717], 'intellectual': [719], 'disability.2': [720], 'None': [721], 'showed': [726], 'clinical': [728], 'feature.': [729], 'mutations,': [736], 'expands': [744], 'mutational': [746], 'ethnic': [748], 'spectrum': [749], 'HHS.': [751], 'thank': [753], 'patients': [755], 'their': [757, 760], 'cooperation': [761], 'participation': [763], 'study.': [766], 'Chaolan': [767], 'Pan:': [768], 'Conceptualization': [769, 919, 931], '(equal);': [770, 773, 775, 777, 779, 782, 791, 794, 796, 805, 814, 816, 818, 826, 828, 837, 846, 855, 857, 868, 876, 885, 894, 903, 912, 920, 923, 932, 935, 938, 941], 'Data': [771, 789, 803, 812, 835, 844, 853, 866, 883, 892, 901, 910, 933], 'curation': [772, 790, 804, 813, 836, 845, 854, 867, 884, 893, 902, 911, 934], 'Investigation': [774, 795, 815, 825, 856], 'Supervision': [776], 'Validation': [778], 'Writing-original': [780, 921, 939], 'draft': [781, 922, 940], 'Writing-review': [783, 797, 806, 819, 829, 838, 847, 858, 869, 877, 886, 895, 904, 913, 924, 942], '&': [784, 798, 807, 820, 830, 839, 848, 859, 870, 878, 887, 896, 905, 914, 925, 943], 'editing': [785, 799, 808, 821, 831, 840, 849, 860, 871, 879, 888, 897, 906, 915, 926, 944], '(equal).': [786, 800, 809, 822, 832, 841, 850, 861, 872, 880, 889, 898, 907, 916, 927, 945], 'Aytaj': [787], 'Humbatova:': [788], 'Formal': [792], 'Luyao': [801], 'Zheng:': [802], 'Nicole': [810], 'Cesarato:': [811], 'Visualization': [817, 827, 875], 'Clemens': [823], 'Grimm:': [824], 'Fuying': [833], 'Chen:': [834], 'Bettina': [842], 'Blaumeiser:': [843], 'Ana': [851, 862], 'Catalán-Lambán:': [852], 'Patiño': [863], 'García': [864], ':': [865], 'Utz': [873], 'Fischer:': [874], 'Ruhong': [881], 'Cheng:': [882], 'Yue': [890], 'Li:': [891, 918], 'Xia': [899], 'Yu:': [900], 'Zhirong': [908], 'Yao:': [909], 'Ming': [917], 'Regina': [928], 'C.': [929], 'Betz:': [930], 'Funding': [936], 'acquisition': [937]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3146120012', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}], 'updated_date': '2025-01-02T10:28:21.200891', 'created_date': '2021-04-13'}