{"id":"https://openalex.org/W1998017152","doi":"https://doi.org/10.1016/s0002-9297(07)62958-9","title":"A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy","display_name":"A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy","publication_year":2000,"publication_date":"2000-11-01","ids":{"openalex":"https://openalex.org/W1998017152","doi":"https://doi.org/10.1016/s0002-9297(07)62958-9","mag":"1998017152","pmid":"https://pubmed.ncbi.nlm.nih.gov/11017805","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1288570"},"language":"en","primary_location":{"id":"doi:10.1016/s0002-9297(07)62958-9","doi":"https://doi.org/10.1016/s0002-9297(07)62958-9","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)62958-9","pdf_url":"http://www.cell.com/article/S0002929707629589/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W1998017152"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0002929707629589/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047002755","display_name":"Fujio Umehara","orcid":"https://orcid.org/0000-0002-4416-8871","observed_orcids":["https://orcid.org/0000-0002-4416-8871"]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Fujio Umehara","raw_affiliation_strings":["The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan. umehara@med6.kufm.kagoshima-u.ac.jp","The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan. umehara@med6.kufm.kagoshima-u.ac.jp","institution_ids":["https://openalex.org/I107139324"]},{"raw_affiliation_string":"The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081630684","display_name":"Genshu Tate","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210156626","display_name":"SHOWA Medical University Fujigaoka Hospital","ror":"https://ror.org/0543mcr22","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210156626"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Genshu Tate","raw_affiliation_strings":["Showa University Fujigaoka Hospital, Department of Surgical Pathology, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa University Fujigaoka Hospital, Department of Surgical Pathology, Kanagawa, Japan","institution_ids":["https://openalex.org/I4210156626"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018330852","display_name":"K Itoh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kayoko Itoh","raw_affiliation_strings":["The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112327826","display_name":"Naoki Yamaguchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Naoki Yamaguchi","raw_affiliation_strings":["The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002265241","display_name":"Tsutomu Douchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tsutomu Douchi","raw_affiliation_strings":["Department of Gynecology and Obstetrics, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gynecology and Obstetrics, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110147358","display_name":"Toshiyuki Mitsuya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210156626","display_name":"SHOWA Medical University Fujigaoka Hospital","ror":"https://ror.org/0543mcr22","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210156626"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshiyuki Mitsuya","raw_affiliation_strings":["Showa University Fujigaoka Hospital, Department of Surgical Pathology, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa University Fujigaoka Hospital, Department of Surgical Pathology, Kanagawa, Japan","institution_ids":["https://openalex.org/I4210156626"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110062036","display_name":"Mitsuhiro Osame","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mitsuhiro Osame","raw_affiliation_strings":["The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5047002755"],"corresponding_institution_ids":["https://openalex.org/I107139324"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":1.9788,"has_fulltext":false,"cited_by_count":253,"citation_normalized_percentile":{"value":0.8591816,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"67","issue":"5","first_page":"1302","last_page":"1305"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.6050000190734863,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.6050000190734863,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.06989999860525131,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.03020000085234642,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/desert-hedgehog","display_name":"desert hedgehog","score":0.9649999737739563},{"id":"https://openalex.org/keywords/polyneuropathy","display_name":"polyneuropathy","score":0.9549999833106995},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8130000233650208},{"id":"https://openalex.org/keywords/translation-failure","display_name":"translation failure","score":0.5440000295639038},{"id":"https://openalex.org/keywords/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.671999990940094},{"id":"https://openalex.org/keywords/t-box-transcription-factor","display_name":"T-box transcription factor","score":0.335999995470047}],"concepts":[{"id":"https://openalex.org/C2778324535","wikidata":"https://www.wikidata.org/wiki/Q1332427","display_name":"Gonadal dysgenesis","level":2,"score":0.6839101314544678},{"id":"https://openalex.org/C2778539099","wikidata":"https://www.wikidata.org/wiki/Q6120","display_name":"Hedgehog","level":3,"score":0.5933628678321838},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49333706498146057},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39689722657203674},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3591470718383789},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3543553948402405},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3510357737541199},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.309481680393219},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06877806782722473}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006059","descriptor_name":"Gonadal Dysgenesis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006059","descriptor_name":"Gonadal Dysgenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006059","descriptor_name":"Gonadal Dysgenesis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009413","descriptor_name":"Nerve Fibers, Myelinated","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012734","descriptor_name":"Disorders of Sex Development","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014176","descriptor_name":"Protein Biosynthesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014998","descriptor_name":"Y Chromosome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015534","descriptor_name":"Trans-Activators","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053823","descriptor_name":"Hedgehog Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/s0002-9297(07)62958-9","doi":"https://doi.org/10.1016/s0002-9297(07)62958-9","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)62958-9","pdf_url":"http://www.cell.com/article/S0002929707629589/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"doi:10.1086/321210","doi":"https://doi.org/10.1086/321210","is_oa":false,"landing_page_url":"https://doi.org/10.1086/321210","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:11017805","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11017805","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1288570","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1288570/","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":"Am J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1016/s0002-9297(07)62958-9","doi":"https://doi.org/10.1016/s0002-9297(07)62958-9","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)62958-9","pdf_url":"http://www.cell.com/article/S0002929707629589/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320320286","display_name":"University College London","ror":"https://ror.org/02jx3x895"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W1998017152.pdf"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1698663755","https://openalex.org/W1966435498","https://openalex.org/W1984222668","https://openalex.org/W1986488143","https://openalex.org/W2011409454","https://openalex.org/W2027573073","https://openalex.org/W2055431259","https://openalex.org/W2058016050","https://openalex.org/W2080500317","https://openalex.org/W2085487017","https://openalex.org/W2104506160"],"related_works":["https://openalex.org/W179134808","https://openalex.org/W2792291646","https://openalex.org/W4409131032","https://openalex.org/W3186986859","https://openalex.org/W2027876164","https://openalex.org/W4292589943","https://openalex.org/W2620078313","https://openalex.org/W2068453500","https://openalex.org/W2142570777","https://openalex.org/W2030813511"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":27},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":9},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":12},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":11},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":12},{"year":2015,"cited_by_count":14},{"year":2014,"cited_by_count":18},{"year":2013,"cited_by_count":12},{"year":2012,"cited_by_count":10}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}