{"id":"https://openalex.org/W2018355418","doi":"https://doi.org/10.1073/pnas.0401529101","title":"Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa","display_name":"Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa","publication_year":2004,"publication_date":"2004-04-16","ids":{"openalex":"https://openalex.org/W2018355418","doi":"https://doi.org/10.1073/pnas.0401529101","mag":"2018355418","pmid":"https://pubmed.ncbi.nlm.nih.gov/15090652","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/404094"},"language":"en","primary_location":{"id":"doi:10.1073/pnas.0401529101","doi":"https://doi.org/10.1073/pnas.0401529101","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.0401529101","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC404094/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083131117","display_name":"George Rebello","orcid":"https://orcid.org/0000-0002-0654-7598","observed_orcids":["https://orcid.org/0000-0002-0654-7598"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"George Rebello","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063841533","display_name":"Raj Ramesar","orcid":"https://orcid.org/0000-0001-5688-1634","observed_orcids":["https://orcid.org/0000-0001-5688-1634"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Rajkumar Ramesar","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082577722","display_name":"Alvera A. Vorster","orcid":"https://orcid.org/0000-0002-6128-0849","observed_orcids":["https://orcid.org/0000-0002-6128-0849"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Alvera Vorster","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026880694","display_name":"Lisa J. Roberts","orcid":"https://orcid.org/0000-0001-6766-0255","observed_orcids":["https://orcid.org/0000-0001-6766-0255"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Lisa Roberts","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061063257","display_name":"Liezle Ehrenreich","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Liezle Ehrenreich","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026926879","display_name":"Ekow Oppon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Ekow Oppon","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027781507","display_name":"Dumisani Gama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Dumisani Gama","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054404642","display_name":"Soraya Bardien","orcid":"https://orcid.org/0000-0002-3508-3438","observed_orcids":["https://orcid.org/0000-0002-3508-3438"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Soraya Bardien","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070487452","display_name":"Jacquie Greenberg","orcid":"https://orcid.org/0000-0001-9202-0903","observed_orcids":["https://orcid.org/0000-0001-9202-0903"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Jacquie Greenberg","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015831580","display_name":"Giuseppe Bonapace","orcid":"https://orcid.org/0000-0001-9978-2185","observed_orcids":["https://orcid.org/0000-0001-9978-2185"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Giuseppe Bonapace","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022331909","display_name":"Abd\u00fcl Waheed","orcid":"https://orcid.org/0000-0001-5812-8822","observed_orcids":["https://orcid.org/0000-0001-5812-8822"]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Abdul Waheed","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110044687","display_name":"Gul N. Shah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"Gul N. Shah","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113555411","display_name":"William S. Sly","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157614274","display_name":"University of Cape Town","ror":"https://ror.org/03p74gp79","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274"]},{"id":"https://openalex.org/I4405266898","display_name":"Institute of Infectious Disease and Molecular Medicine","ror":"https://ror.org/00900dw59","country_code":"ZA","type":"education","lineage":["https://openalex.org/I157614274","https://openalex.org/I4405266898"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US","ZA"],"is_corresponding":false,"raw_author_name":"William S. Sly","raw_affiliation_strings":["Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa; and Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104","institution_ids":["https://openalex.org/I157614274","https://openalex.org/I4405266898","https://openalex.org/I47838141"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":8.5329,"has_fulltext":false,"cited_by_count":112,"citation_normalized_percentile":{"value":0.9788677,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"101","issue":"17","first_page":"6617","last_page":"6622"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T12412","display_name":"Enzyme function and inhibition","score":0.004800000227987766,"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.7720000147819519},{"id":"https://openalex.org/keywords/carbonic-anhydrase-iv","display_name":"carbonic anhydrase IV","score":0.9049999713897705},{"id":"https://openalex.org/keywords/choriocapillaris","display_name":"choriocapillaris","score":0.8330000042915344},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.4429999887943268},{"id":"https://openalex.org/keywords/endoplasmic-reticulum-stress","display_name":"endoplasmic reticulum stress","score":0.9480000138282776},{"id":"https://openalex.org/keywords/unfolded-protein-response","display_name":"unfolded protein response","score":0.9990000128746033},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8349999785423279},{"id":"https://openalex.org/keywords/retinal-ischemia","display_name":"retinal ischemia","score":0.7440000176429749},{"id":"https://openalex.org/keywords/gpi-anchored-proteins","display_name":"GPI-anchored proteins","score":0.8579999804496765}],"concepts":[{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.7478519678115845},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7304162383079529},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5777720212936401},{"id":"https://openalex.org/C2779926675","wikidata":"https://www.wikidata.org/wiki/Q6943700","display_name":"Mutant protein","level":4,"score":0.5015127658843994},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.4348814785480499},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3530902862548828},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19975200295448303}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004591","descriptor_name":"Electrophoresis, Polyacrylamide Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015854","descriptor_name":"Up-Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015971","descriptor_name":"Gene Expression Regulation, Enzymologic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019556","descriptor_name":"COS Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030741","descriptor_name":"Carbonic Anhydrase IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1073/pnas.0401529101","doi":"https://doi.org/10.1073/pnas.0401529101","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.0401529101","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},{"id":"pmid:15090652","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15090652","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences of the United States of America","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:404094","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC404094/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proc Natl Acad Sci U S A","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:404094","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC404094/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proc Natl Acad Sci U S A","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G8970384000","display_name":"Biochemical Genetics of Carbonic Anhydrase Deficiencies","funder_award_id":"R01DK040163","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320320671","display_name":"National Research Foundation","ror":"https://ror.org/05s0g1g46"},{"id":"https://openalex.org/F4320320672","display_name":"South African Medical Research Council","ror":"https://ror.org/05q60vz69"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W1489169434","https://openalex.org/W1510623503","https://openalex.org/W1527172969","https://openalex.org/W1970512473","https://openalex.org/W1978566888","https://openalex.org/W1981353467","https://openalex.org/W1993147672","https://openalex.org/W1997369314","https://openalex.org/W2002439304","https://openalex.org/W2018289835","https://openalex.org/W2025518316","https://openalex.org/W2025770878","https://openalex.org/W2026357888","https://openalex.org/W2026538661","https://openalex.org/W2033756350","https://openalex.org/W2048162805","https://openalex.org/W2048592634","https://openalex.org/W2054159211","https://openalex.org/W2058879447","https://openalex.org/W2064507821","https://openalex.org/W2064752765","https://openalex.org/W2065899910","https://openalex.org/W2084193227","https://openalex.org/W2090839709","https://openalex.org/W2092365242","https://openalex.org/W2095822220","https://openalex.org/W2100837269","https://openalex.org/W2106001283","https://openalex.org/W2114360920","https://openalex.org/W2129089207","https://openalex.org/W2131875219","https://openalex.org/W2138879032","https://openalex.org/W2140396743","https://openalex.org/W2142464825","https://openalex.org/W2149563853","https://openalex.org/W2235449736","https://openalex.org/W2397512078","https://openalex.org/W4249451718","https://openalex.org/W4254493498","https://openalex.org/W4254720972"],"related_works":["https://openalex.org/W1969476899","https://openalex.org/W2082543317","https://openalex.org/W68351344","https://openalex.org/W2018949803","https://openalex.org/W2169343718","https://openalex.org/W2737778684","https://openalex.org/W1987969990","https://openalex.org/W7101146259","https://openalex.org/W2435731281","https://openalex.org/W2789268853"],"abstract_inverted_index":{"Genetic":[0],"and":[1,91,154,170,181,185,195,245],"physical":[2],"mapping":[3],"of":[4,34,52,63,104,139,151,161,176,220,222,230],"the":[5,17,32,35,60,64,72,84,105,119,123,131,136,177,207,211,223,227,231,242],"RP17":[6],"locus":[7],"on":[8],"17q":[9],"identified":[10,46],"a":[11,24,47,56,115,149,217],"3.6-megabase":[12],"candidate":[13,40],"region":[14],"that":[15,27,49,216],"includes":[16],"gene":[18,66],"encoding":[19],"carbonic":[20,140],"anhydrase":[21,141],"IV":[22,142],"(CA4),":[23],"glycosylphosphatidylinositol-anchored":[25],"protein":[26,166,172,179],"is":[28],"highly":[29],"expressed":[30,144],"in":[31,42,59,87,95,108,203,226,237,241],"choriocapillaris":[33,232],"human":[36],"eye.":[37],"By":[38],"sequencing":[39],"genes":[41],"this":[43],"region,":[44],"we":[45],"mutation":[48,78,120,133],"causes":[50],"replacement":[51],"an":[53],"arginine":[54],"with":[55,83],"tryptophan":[57],"(R14W)":[58],"signal":[61,73],"sequence":[62,74],"CA4":[65],"at":[67],"position":[68],"-5":[69],"relative":[70],"to":[71,81,148,159,234,239],"cleavage":[75],"site.":[76],"This":[77],"was":[79,92],"found":[80,94],"cosegregate":[82],"disease":[85],"phenotype":[86],"two":[88],"large":[89],"families":[90],"not":[93,210],"36":[96],"unaffected":[97],"family":[98],"members":[99],"or":[100],"100":[101],"controls.":[102],"Expression":[103],"mutant":[106,224],"cDNA":[107],"COS-7":[109,129],"cells":[110,205,229],"produced":[111],"several":[112],"findings,":[113],"suggesting":[114],"mechanism":[116],"by":[117,145,191],"which":[118],"can":[121],"explain":[122],"autosomal":[124,247],"dominant":[125,248],"disease.":[126],"In":[127],"transfected":[128],"cells,":[130],"R14W":[132],"(i)":[134],"reduced":[135],"steady-state":[137],"level":[138,219],"activity":[143],"28%":[146],"due":[147],"combination":[150],"decreased":[152],"synthesis":[153],"accelerated":[155],"turnover;":[156],"(ii)":[157],"led":[158],"up-regulation":[160],"immunoglobulin-binding":[162],"protein,":[163,174],"double-stranded":[164],"RNA-regulated":[165],"kinase-like":[167],"ER":[168],"kinase,":[169],"CCAAT/enhancer-binding":[171],"homologous":[173],"markers":[175],"unfolded":[178],"response":[180],"endoplasmic":[182],"reticulum":[183],"stress;":[184],"(iii)":[186],"induced":[187],"apoptosis,":[188,235],"as":[189],"evidenced":[190],"annexin":[192],"V":[193],"binding":[194],"terminal":[196],"deoxynucleotidyltransferase-mediated":[197],"dUTP":[198],"nick":[199],"end":[200],"labeling":[201],"staining,":[202],"most":[204],"expressing":[206],"mutant,":[208],"but":[209],"WT,":[212],"protein.":[213],"We":[214],"suggest":[215],"high":[218],"expression":[221],"allele":[225],"endothelial":[228],"leads":[233],"leading":[236],"turn":[238],"ischemia":[240],"overlying":[243],"retina":[244],"producing":[246],"retinitis":[249],"pigmentosa.":[250]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
