Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3127366107', 'doi': 'https://doi.org/10.1038/s41436-021-01106-z', 'title': 'Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome', 'display_name': 'Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome', 'publication_year': 2021, 'publication_date': '2021-02-02', 'ids': {'openalex': 'https://openalex.org/W3127366107', 'doi': 'https://doi.org/10.1038/s41436-021-01106-z', 'mag': '3127366107', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/33531668'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1038/s41436-021-01106-z', 'pdf_url': 'http://www.gimjournal.org/article/S1098360021052175/pdf', 'source': {'id': 'https://openalex.org/S187186932', 'display_name': 'Genetics in Medicine', 'issn_l': '1098-3600', 'issn': ['1098-3600', '1530-0366'], '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': 'publisher-specific-oa', 'license_id': 'https://openalex.org/licenses/publisher-specific-oa', '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': 'bronze', 'oa_url': 'http://www.gimjournal.org/article/S1098360021052175/pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5019316130', 'display_name': 'Minna Luo', 'orcid': 'https://orcid.org/0000-0003-1855-985X'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Minna Luo', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5052504607', 'display_name': 'Zaisheng Lin', 'orcid': None}, 'institutions': [{'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': 'Zaisheng Lin', 'raw_affiliation_strings': ['Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101301349', 'display_name': 'Tian Zhu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801228662', 'display_name': 'Peking Union Medical College Hospital', 'ror': 'https://ror.org/04jztag35', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801228662']}, {'id': 'https://openalex.org/I200296433', 'display_name': 'Chinese Academy of Medical Sciences & Peking Union Medical College', 'ror': 'https://ror.org/02drdmm93', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I200296433']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Tian Zhu', 'raw_affiliation_strings': ['Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China', 'institution_ids': ['https://openalex.org/I2801228662', 'https://openalex.org/I200296433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045472575', 'display_name': 'Minjun Jin', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I59028903', 'display_name': 'Ocean University of China', 'ror': 'https://ror.org/04rdtx186', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I59028903']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Minjun Jin', 'raw_affiliation_strings': ['Institute of Evolution and Marine Biodiversity, Ocean University of China, Qingdao, China'], 'affiliations': [{'raw_affiliation_string': 'Institute of Evolution and Marine Biodiversity, Ocean University of China, Qingdao, China', 'institution_ids': ['https://openalex.org/I59028903']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5039466854', 'display_name': 'Dan Meng', 'orcid': 'https://orcid.org/0000-0001-8588-0235'}, 'institutions': [{'id': 'https://openalex.org/I110109458', 'display_name': 'Tianjin University of Commerce', 'ror': 'https://ror.org/02b6amy98', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I110109458']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Dan Meng', 'raw_affiliation_strings': ['Tianjin Key Laboratory of Food and Biotechnology, School of Biotechnology and Food Science, Tianjin University of Commerce, Tianjin, China'], 'affiliations': [{'raw_affiliation_string': 'Tianjin Key Laboratory of Food and Biotechnology, School of Biotechnology and Food Science, Tianjin University of Commerce, Tianjin, China', 'institution_ids': ['https://openalex.org/I110109458']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5053106687', 'display_name': 'Ruida He', 'orcid': None}, 'institutions': [{'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': 'Ruida He', 'raw_affiliation_strings': ['Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102224823', 'display_name': 'Zongfu Cao', 'orcid': None}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zongfu Cao', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5073102620', 'display_name': 'Yue Shen', 'orcid': 'https://orcid.org/0000-0003-2797-9178'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Yue Shen', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101985523', 'display_name': 'Chao Lu', 'orcid': 'https://orcid.org/0000-0003-1189-3265'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Chao Lu', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045061359', 'display_name': 'Ruikun Cai', 'orcid': 'https://orcid.org/0000-0001-9810-7559'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ruikun Cai', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5001512334', 'display_name': 'Yong Zhao', 'orcid': 'https://orcid.org/0000-0003-3423-2718'}, 'institutions': [{'id': 'https://openalex.org/I37987034', 'display_name': 'Guangzhou University', 'ror': 'https://ror.org/05ar8rn06', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I37987034']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Yong Zhao', 'raw_affiliation_strings': ["Child Rehabilitation Department, Nanhai Affiliated Maternity and Children's Hospital of Guangzhou University of TCM, Foshan, China"], 'affiliations': [{'raw_affiliation_string': "Child Rehabilitation Department, Nanhai Affiliated Maternity and Children's Hospital of Guangzhou University of TCM, Foshan, China", 'institution_ids': ['https://openalex.org/I37987034']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100444820', 'display_name': 'Xiaogang Wang', 'orcid': 'https://orcid.org/0000-0001-9109-8020'}, 'institutions': [{'id': 'https://openalex.org/I4210090173', 'display_name': "Chengdu Women's and Children's Central Hospital", 'ror': 'https://ror.org/008x2am79', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210090173']}, {'id': 'https://openalex.org/I207528943', 'display_name': 'Chengdu Medical College', 'ror': 'https://ror.org/01c4jmp52', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I207528943']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Xueyan Wang', 'raw_affiliation_strings': ["Department of Prenatal Diagnosis, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China"], 'affiliations': [{'raw_affiliation_string': "Department of Prenatal Diagnosis, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China", 'institution_ids': ['https://openalex.org/I4210090173', 'https://openalex.org/I207528943']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100423959', 'display_name': 'Hui Li', 'orcid': 'https://orcid.org/0000-0003-1942-2441'}, 'institutions': [{'id': 'https://openalex.org/I2801228662', 'display_name': 'Peking Union Medical College Hospital', 'ror': 'https://ror.org/04jztag35', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801228662']}, {'id': 'https://openalex.org/I200296433', 'display_name': 'Chinese Academy of Medical Sciences & Peking Union Medical College', 'ror': 'https://ror.org/02drdmm93', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I200296433']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Hui Li', 'raw_affiliation_strings': ['Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China', 'institution_ids': ['https://openalex.org/I2801228662', 'https://openalex.org/I200296433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5042747827', 'display_name': 'Shijing Wu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801228662', 'display_name': 'Peking Union Medical College Hospital', 'ror': 'https://ror.org/04jztag35', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801228662']}, {'id': 'https://openalex.org/I200296433', 'display_name': 'Chinese Academy of Medical Sciences & Peking Union Medical College', 'ror': 'https://ror.org/02drdmm93', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I200296433']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Shijing Wu', 'raw_affiliation_strings': ['Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China', 'institution_ids': ['https://openalex.org/I2801228662', 'https://openalex.org/I200296433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101637194', 'display_name': 'Xuan Zou', 'orcid': 'https://orcid.org/0000-0002-5248-9480'}, 'institutions': [{'id': 'https://openalex.org/I2801228662', 'display_name': 'Peking Union Medical College Hospital', 'ror': 'https://ror.org/04jztag35', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801228662']}, {'id': 'https://openalex.org/I200296433', 'display_name': 'Chinese Academy of Medical Sciences & Peking Union Medical College', 'ror': 'https://ror.org/02drdmm93', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I200296433']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Xuan Zou', 'raw_affiliation_strings': ['Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China', 'institution_ids': ['https://openalex.org/I2801228662', 'https://openalex.org/I200296433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5044078234', 'display_name': 'Guanjun Luo', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I37987034', 'display_name': 'Guangzhou University', 'ror': 'https://ror.org/05ar8rn06', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I37987034']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Guanjun Luo', 'raw_affiliation_strings': ["Child Rehabilitation Department, Nanhai Affiliated Maternity and Children's Hospital of Guangzhou University of TCM, Foshan, China"], 'affiliations': [{'raw_affiliation_string': "Child Rehabilitation Department, Nanhai Affiliated Maternity and Children's Hospital of Guangzhou University of TCM, Foshan, China", 'institution_ids': ['https://openalex.org/I37987034']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019421547', 'display_name': 'Li Cao', 'orcid': 'https://orcid.org/0000-0003-1742-9877'}, 'institutions': [{'id': 'https://openalex.org/I4210090173', 'display_name': "Chengdu Women's and Children's Central Hospital", 'ror': 'https://ror.org/008x2am79', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210090173']}, {'id': 'https://openalex.org/I207528943', 'display_name': 'Chengdu Medical College', 'ror': 'https://ror.org/01c4jmp52', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I207528943']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Li Cao', 'raw_affiliation_strings': ["Child Healthcare Department, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China"], 'affiliations': [{'raw_affiliation_string': "Child Healthcare Department, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China", 'institution_ids': ['https://openalex.org/I4210090173', 'https://openalex.org/I207528943']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054116668', 'display_name': 'Min Huang', 'orcid': 'https://orcid.org/0000-0002-5662-6219'}, 'institutions': [{'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': 'Min Huang', 'raw_affiliation_strings': ['Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5071272143', 'display_name': 'Huike Jiao', 'orcid': 'https://orcid.org/0000-0002-5926-9130'}, 'institutions': [{'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': 'Huike Jiao', 'raw_affiliation_strings': ['Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000673221', 'display_name': 'Huafang Gao', 'orcid': 'https://orcid.org/0000-0001-7236-0193'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Huafang Gao', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5042566435', 'display_name': 'Ruifang Sui', 'orcid': 'https://orcid.org/0000-0002-6659-0926'}, 'institutions': [{'id': 'https://openalex.org/I2801228662', 'display_name': 'Peking Union Medical College Hospital', 'ror': 'https://ror.org/04jztag35', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801228662']}, {'id': 'https://openalex.org/I200296433', 'display_name': 'Chinese Academy of Medical Sciences & Peking Union Medical College', 'ror': 'https://ror.org/02drdmm93', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I200296433']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ruifang Sui', 'raw_affiliation_strings': ['Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China', 'institution_ids': ['https://openalex.org/I2801228662', 'https://openalex.org/I200296433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5067865889', 'display_name': 'Chengtian Zhao', 'orcid': 'https://orcid.org/0000-0003-1236-914X'}, 'institutions': [{'id': 'https://openalex.org/I59028903', 'display_name': 'Ocean University of China', 'ror': 'https://ror.org/04rdtx186', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I59028903']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Chengtian Zhao', 'raw_affiliation_strings': ['Institute of Evolution and Marine Biodiversity, Ocean University of China, Qingdao, China'], 'affiliations': [{'raw_affiliation_string': 'Institute of Evolution and Marine Biodiversity, Ocean University of China, Qingdao, China', 'institution_ids': ['https://openalex.org/I59028903']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101521711', 'display_name': 'Xu Ma', 'orcid': 'https://orcid.org/0000-0002-9966-9825'}, 'institutions': [], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Xu Ma', 'raw_affiliation_strings': ['National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China'], 'affiliations': [{'raw_affiliation_string': 'National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5024662281', 'display_name': 'Muqing Cao', 'orcid': 'https://orcid.org/0000-0002-0352-6548'}, 'institutions': [{'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': 'Muqing Cao', 'raw_affiliation_strings': ['Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China', 'institution_ids': ['https://openalex.org/I183067930']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 8, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 4200, 'currency': 'USD', 'value_usd': 4200, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 4.133, 'has_fulltext': False, 'cited_by_count': 26, 'citation_normalized_percentile': {'value': 0.999948, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '23', 'issue': '6', 'first_page': '1041', 'last_page': '1049'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11412', 'display_name': 'Ciliopathies: Genetic Disorders Involving Primary Cilia', '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': 'Ciliopathies: Genetic Disorders Involving Primary Cilia', '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/T12009', 'display_name': 'Hedgehog Signaling in Development and Cancer', 'score': 0.9814, '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/T12552', 'display_name': 'Development and Disorders of Fetal Brain', 'score': 0.9751, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/ciliopathy', 'display_name': 'Ciliopathy', 'score': 0.96894217}, {'id': 'https://openalex.org/keywords/intraflagellar-transport', 'display_name': 'Intraflagellar transport', 'score': 0.96312296}, {'id': 'https://openalex.org/keywords/joubert-syndrome', 'display_name': 'Joubert syndrome', 'score': 0.91264236}, {'id': 'https://openalex.org/keywords/ciliogenesis', 'display_name': 'Ciliogenesis', 'score': 0.87391067}, {'id': 'https://openalex.org/keywords/ciliopathies', 'display_name': 'Ciliopathies', 'score': 0.516792}, {'id': 'https://openalex.org/keywords/smoothened', 'display_name': 'Smoothened', 'score': 0.50058436}, {'id': 'https://openalex.org/keywords/bardet–biedl-syndrome', 'display_name': 'Bardet–Biedl syndrome', 'score': 0.4358225}], 'concepts': [{'id': 'https://openalex.org/C2780561973', 'wikidata': 'https://www.wikidata.org/wiki/Q203031', 'display_name': 'Ciliopathy', 'level': 4, 'score': 0.96894217}, {'id': 'https://openalex.org/C37590093', 'wikidata': 'https://www.wikidata.org/wiki/Q978456', 'display_name': 'Intraflagellar transport', 'level': 4, 'score': 0.96312296}, {'id': 'https://openalex.org/C100094513', 'wikidata': 'https://www.wikidata.org/wiki/Q180436', 'display_name': 'Cilium', 'level': 2, 'score': 0.94465744}, {'id': 'https://openalex.org/C2910395002', 'wikidata': 'https://www.wikidata.org/wiki/Q203031', 'display_name': 'Ciliopathies', 'level': 4, 'score': 0.929744}, {'id': 'https://openalex.org/C2777386794', 'wikidata': 'https://www.wikidata.org/wiki/Q1101694', 'display_name': 'Joubert syndrome', 'level': 3, 'score': 0.91264236}, {'id': 'https://openalex.org/C195267511', 'wikidata': 'https://www.wikidata.org/wiki/Q5119969', 'display_name': 'Ciliogenesis', 'level': 3, 'score': 0.87391067}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.71057224}, {'id': 'https://openalex.org/C2776878037', 'wikidata': 'https://www.wikidata.org/wiki/Q169444', 'display_name': 'Zebrafish', 'level': 3, 'score': 0.63449466}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5187}, {'id': 'https://openalex.org/C95444343', 'wikidata': 'https://www.wikidata.org/wiki/Q7141', 'display_name': 'Cell biology', 'level': 1, 'score': 0.5074164}, {'id': 'https://openalex.org/C145837895', 'wikidata': 'https://www.wikidata.org/wiki/Q18031607', 'display_name': 'Smoothened', 'level': 4, 'score': 0.50058436}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.46328965}, {'id': 'https://openalex.org/C16671776', 'wikidata': 'https://www.wikidata.org/wiki/Q5420592', 'display_name': 'Exome sequencing', 'level': 4, 'score': 0.44747585}, {'id': 'https://openalex.org/C2781232497', 'wikidata': 'https://www.wikidata.org/wiki/Q1678281', 'display_name': 'Bardet–Biedl syndrome', 'level': 4, 'score': 0.4358225}, {'id': 'https://openalex.org/C88498014', 'wikidata': 'https://www.wikidata.org/wiki/Q14859918', 'display_name': 'Hedgehog signaling pathway', 'level': 3, 'score': 0.4283567}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.29642966}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.2176581}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.12477079}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.08874035}], 'mesh': [{'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D005124', 'descriptor_name': 'Eye Abnormalities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D052177', 'descriptor_name': 'Kidney Diseases, Cystic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002531', 'descriptor_name': 'Cerebellum', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002531', 'descriptor_name': 'Cerebellum', 'qualifier_ui': 'Q000002', 'qualifier_name': 'abnormalities', 'is_major_topic': False}, {'descriptor_ui': 'D003598', 'descriptor_name': 'Cytoskeletal Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005124', 'descriptor_name': 'Eye Abnormalities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D053823', 'descriptor_name': 'Hedgehog Proteins', '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': 'D052177', 'descriptor_name': 'Kidney Diseases, Cystic', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D010744', 'descriptor_name': 'Phosphoric Monoester Hydrolases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D010744', 'descriptor_name': 'Phosphoric Monoester Hydrolases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012160', 'descriptor_name': 'Retina', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012160', 'descriptor_name': 'Retina', 'qualifier_ui': 'Q000002', 'qualifier_name': 'abnormalities', 'is_major_topic': False}, {'descriptor_ui': 'D015027', 'descriptor_name': 'Zebrafish', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015027', 'descriptor_name': 'Zebrafish', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1038/s41436-021-01106-z', 'pdf_url': 'http://www.gimjournal.org/article/S1098360021052175/pdf', 'source': {'id': 'https://openalex.org/S187186932', 'display_name': 'Genetics in Medicine', 'issn_l': '1098-3600', 'issn': ['1098-3600', '1530-0366'], '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': 'publisher-specific-oa', 'license_id': 'https://openalex.org/licenses/publisher-specific-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/33531668', '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/10.1038/s41436-021-01106-z', 'pdf_url': 'http://www.gimjournal.org/article/S1098360021052175/pdf', 'source': {'id': 'https://openalex.org/S187186932', 'display_name': 'Genetics in Medicine', 'issn_l': '1098-3600', 'issn': ['1098-3600', '1530-0366'], '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': 'publisher-specific-oa', 'license_id': 'https://openalex.org/licenses/publisher-specific-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Life below water', 'score': 0.46, 'id': 'https://metadata.un.org/sdg/14'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 38, 'referenced_works': ['https://openalex.org/W1900540592', 'https://openalex.org/W1927073684', 'https://openalex.org/W1980100245', 'https://openalex.org/W1985225356', 'https://openalex.org/W1988928475', 'https://openalex.org/W2003302159', 'https://openalex.org/W2004044775', 'https://openalex.org/W2013938815', 'https://openalex.org/W2026335052', 'https://openalex.org/W2032141866', 'https://openalex.org/W2041964741', 'https://openalex.org/W2051301625', 'https://openalex.org/W2051978340', 'https://openalex.org/W2053893960', 'https://openalex.org/W2099008080', 'https://openalex.org/W2103638516', 'https://openalex.org/W2112101855', 'https://openalex.org/W2120185413', 'https://openalex.org/W2120728615', 'https://openalex.org/W2140864413', 'https://openalex.org/W2154261437', 'https://openalex.org/W2168569886', 'https://openalex.org/W2171608919', 'https://openalex.org/W2177564588', 'https://openalex.org/W2256016639', 'https://openalex.org/W2268895451', 'https://openalex.org/W2491683918', 'https://openalex.org/W2564726268', 'https://openalex.org/W2583285781', 'https://openalex.org/W2734511810', 'https://openalex.org/W2734540391', 'https://openalex.org/W2884972603', 'https://openalex.org/W2898810121', 'https://openalex.org/W2937166818', 'https://openalex.org/W2954255656', 'https://openalex.org/W2987977317', 'https://openalex.org/W2998227648', 'https://openalex.org/W3009748717'], 'related_works': ['https://openalex.org/W794836662', 'https://openalex.org/W4383710751', 'https://openalex.org/W4282968432', 'https://openalex.org/W3127366107', 'https://openalex.org/W2772819251', 'https://openalex.org/W2734511810', 'https://openalex.org/W2158860585', 'https://openalex.org/W2120728615', 'https://openalex.org/W2041964741', 'https://openalex.org/W1971688911'], 'abstract_inverted_index': {'<h2>Abstract</h2><h3>Purpose</h3>': [0], 'Ciliopathies': [1], 'are': [2, 187], 'a': [3, 17, 38, 84, 107, 180], 'group': [4], 'of': [5, 10, 52, 65, 99, 134, 151], 'disorders': [6], 'caused': [7], 'by': [8], 'defects': [9], 'the': [11, 31, 43, 50, 63, 96, 100, 115, 135], 'cilia.': [12], 'Joubert': [13], 'syndrome': [14], '(JBTS)': [15], 'is': [16, 177], 'recessive': [18], 'and': [19, 27, 46, 89, 121, 154, 161, 163, 184], 'pleiotropic': [20], 'ciliopathy': [21], 'that': [22], 'causes': [23], 'cerebellar': [24], 'vermis': [25], 'hypoplasia': [26], 'psychomotor': [28], 'delay.': [29], 'Although': [30], 'intraflagellar': [32], 'transport': [33], '(IFT)': [34], 'complex': [35], 'serves': [36], 'as': [37, 106, 179], 'key': [39], 'module': [40], 'to': [41, 61, 75, 94], 'maintain': [42], 'ciliary': [44, 48, 155], 'structure': [45], 'regulate': [47], 'signaling,': [49], 'function': [51], 'IFT': [53, 66, 81, 152], 'in': [54, 68, 80, 83, 110, 129, 143, 169], 'JBTS': [55, 85], 'remains': [56], 'largely': [57], 'unknown.': [58], 'We': [59, 103], 'aimed': [60], 'explore': [62], 'impact': [64], 'dysfunction': [67], 'JBTS.': [69], '<h3>Methods</h3>': [70], 'Exome': [71], 'sequencing': [72], 'was': [73], 'performed': [74], 'screen': [76], 'for': [77], 'pathogenic': [78, 97], 'variants': [79, 120], 'genes': [82], 'cohort.': [86], 'Animal': [87], 'model': [88], 'patient-derived': [90], 'fibroblasts': [91, 171], 'were': [92, 167], 'used': [93], 'evaluate': [95], 'effects': [98, 142], 'variants.': [101, 174], '<h3>Results</h3>': [102], 'identified': [104, 178], '<i>IFT74</i>': [105, 173, 176], 'JBTS-associated': [108], 'gene': [109], 'three': [111], 'unrelated': [112], 'families.': [113], 'All': [114], 'affected': [116], 'individuals': [117], 'carried': [118], 'truncated': [119], 'shared': [122], 'one': [123], 'missense': [124], 'variant': [125, 138], '(p.Q179E)': [126], 'found': [127], 'only': [128], 'East': [130], 'Asians.': [131], 'The': [132], 'expression': [133], 'human': [136], 'p.Q179E-IFT74': [137], 'displayed': [139], 'compromised': [140], 'rescue': [141], 'zebrafish': [144], '<i>ift74</i>': [145], 'morphants.': [146], 'Attenuated': [147], 'ciliogenesis;': [148], 'altered': [149], 'distribution': [150], 'proteins': [153], 'membrane': [156], 'proteins,': [157], 'including': [158], 'ARL13B,': [159], 'INPP5E,': [160], 'GPR161;': [162], 'disrupted': [164], 'hedgehog': [165], 'signaling': [166], 'observed': [168], 'patient': [170], 'with': [172], '<h3>Conclusion</h3>': [175], 'JBTS-related': [181], 'gene.': [182], 'Cellular': [183], 'biochemical': [185], 'mechanisms': [186], 'also': [188], 'provided.': [189], 'Unlabelled': [190], 'Image': [191]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3127366107', 'counts_by_year': [{'year': 2024, 'cited_by_count': 4}, {'year': 2023, 'cited_by_count': 10}, {'year': 2022, 'cited_by_count': 7}, {'year': 2021, 'cited_by_count': 5}], 'updated_date': '2024-09-17T21:47:41.951415', 'created_date': '2021-02-15'}