{"id":"https://openalex.org/W2093533550","doi":"https://doi.org/10.1038/ng1197-353","title":"A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation","display_name":"A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation","publication_year":1997,"publication_date":"1997-11-01","ids":{"openalex":"https://openalex.org/W2093533550","doi":"https://doi.org/10.1038/ng1197-353","mag":"2093533550","pmid":"https://pubmed.ncbi.nlm.nih.gov/9354806"},"language":"en","primary_location":{"id":"doi:10.1038/ng1197-353","doi":"https://doi.org/10.1038/ng1197-353","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng1197-353","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5106486411","display_name":"Robert M. Plenge","orcid":"https://orcid.org/0000-0002-3705-5924","observed_orcids":["https://orcid.org/0000-0002-3705-5924"]},"institutions":[{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert M. Plenge","raw_affiliation_strings":["Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA","institution_ids":["https://openalex.org/I58956616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081370013","display_name":"Brian Hendrich","orcid":"https://orcid.org/0000-0002-0231-3073","observed_orcids":["https://orcid.org/0000-0002-0231-3073"]},"institutions":[{"id":"https://openalex.org/I2799343972","display_name":"University Hospitals of Cleveland","ror":"https://ror.org/0130jk839","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian D. Hendrich","raw_affiliation_strings":["Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio, 44106, USA","Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio, 44106, USA","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I58956616"]},{"raw_affiliation_string":"Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, USA","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I58956616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles Schwartz","raw_affiliation_strings":["J.C. Self Research Institute, The Greenwood Center, Greenwood, South Carolina, USA","J.C. Self Research Institute, The Greenwood Center, Greenwood, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"J.C. Self Research Institute, The Greenwood Center, Greenwood, South Carolina, USA","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"J.C. Self Research Institute, The Greenwood Center, Greenwood, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081132771","display_name":"J. Fernando Arena","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Fernando Arena","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Miami School of Medicine, Miami, Florida, USA","Department of Pediatrics, Division of Genetics, University of Miami School of Medicine, Miami, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Miami School of Medicine, Miami, Florida, USA","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Miami School of Medicine, Miami, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032254629","display_name":"Anna K. Naumova","orcid":"https://orcid.org/0000-0001-8481-5765","observed_orcids":["https://orcid.org/0000-0001-8481-5765"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anna Naumova","raw_affiliation_strings":["Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA","Fels Institute for Cancer Research and Molecular Biology, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA","institution_ids":[]},{"raw_affiliation_string":"Fels Institute for Cancer Research and Molecular Biology, Philadelphia, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049872478","display_name":"Carmen Sapienza","orcid":"https://orcid.org/0000-0003-2194-0344","observed_orcids":["https://orcid.org/0000-0003-2194-0344"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carmen Sapienza","raw_affiliation_strings":["Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA","Fels Institute for Cancer Research and Molecular Biology, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA","institution_ids":[]},{"raw_affiliation_string":"Fels Institute for Cancer Research and Molecular Biology, Philadelphia, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110115521","display_name":"Robin M Winter","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robin M. Winter","raw_affiliation_strings":["Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, WC1N1EH, UK","Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, WC1N1EH, UK","institution_ids":[]},{"raw_affiliation_string":"Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109872049","display_name":"Huntington F. Willard","orcid":"https://orcid.org/0000-0002-7755-0727","observed_orcids":["https://orcid.org/0000-0002-7755-0727"]},"institutions":[{"id":"https://openalex.org/I2799343972","display_name":"University Hospitals of Cleveland","ror":"https://ror.org/0130jk839","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Huntington F. Willard","raw_affiliation_strings":["Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio, 44106, USA","Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio, 44106, USA","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I58956616"]},{"raw_affiliation_string":"Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, USA","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I58956616"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5109872049"],"corresponding_institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I58956616"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":11.8951,"has_fulltext":false,"cited_by_count":283,"citation_normalized_percentile":{"value":0.99175623,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":99},"biblio":{"volume":"17","issue":"3","first_page":"353","last_page":"356"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.98580002784729,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.98580002784729,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.004100000020116568,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/xist","display_name":"XIST","score":0.7929999828338623},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.9490000009536743},{"id":"https://openalex.org/keywords/skewed-x-inactivation","display_name":"X-inactivation skewing","score":0.7699999809265137},{"id":"https://openalex.org/keywords/promoter-mutations","display_name":"promoter mutations","score":0.7910000085830688}],"concepts":[{"id":"https://openalex.org/C4323932","wikidata":"https://www.wikidata.org/wiki/Q898914","display_name":"X-inactivation","level":4,"score":0.9818245768547058},{"id":"https://openalex.org/C110411900","wikidata":"https://www.wikidata.org/wiki/Q18032385","display_name":"XIST","level":5,"score":0.977083146572113},{"id":"https://openalex.org/C2590687","wikidata":"https://www.wikidata.org/wiki/Q7534814","display_name":"Skewed X-inactivation","level":5,"score":0.9079985618591309},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8746546506881714},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.85121089220047},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7254298329353333},{"id":"https://openalex.org/C92509807","wikidata":"https://www.wikidata.org/wiki/Q13417137","display_name":"Dosage compensation","level":4,"score":0.6635243892669678},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5533813238143921},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5128865242004395},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5053706765174866},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.4753446578979492},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4536267817020416},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4158708453178406},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32043200731277466},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D004303","descriptor_name":"Dosage Compensation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D008297","descriptor_name":"Male","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011944","descriptor_name":"Receptors, Androgen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015252","descriptor_name":"Deoxyribonucleases, Type II Site-Specific","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015252","descriptor_name":"Deoxyribonucleases, Type II Site-Specific","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D022661","descriptor_name":"RNA, Untranslated","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D062085","descriptor_name":"RNA, Long Noncoding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/ng1197-353","doi":"https://doi.org/10.1038/ng1197-353","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng1197-353","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:9354806","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9354806","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":"Nature genetics","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:173942","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/173942/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Genetics , 17 pp. 353-356. (1997)","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W47648998","https://openalex.org/W113984154","https://openalex.org/W1492806079","https://openalex.org/W1939399808","https://openalex.org/W1968116524","https://openalex.org/W1972577073","https://openalex.org/W1973445288","https://openalex.org/W1986277038","https://openalex.org/W1993853631","https://openalex.org/W1999367436","https://openalex.org/W1999568515","https://openalex.org/W2018660197","https://openalex.org/W2027436201","https://openalex.org/W2027447188","https://openalex.org/W2029146706","https://openalex.org/W2029872802","https://openalex.org/W2033366227","https://openalex.org/W2036179243","https://openalex.org/W2042348622","https://openalex.org/W2045666881","https://openalex.org/W2053152186","https://openalex.org/W2054897842","https://openalex.org/W2088879940","https://openalex.org/W2090408824","https://openalex.org/W2097923341","https://openalex.org/W2121560099","https://openalex.org/W2122900472","https://openalex.org/W2137081741","https://openalex.org/W2168713207","https://openalex.org/W2168763523","https://openalex.org/W2261446810","https://openalex.org/W2327605815","https://openalex.org/W2415356972","https://openalex.org/W4238656497"],"related_works":["https://openalex.org/W3112177496","https://openalex.org/W2169297021","https://openalex.org/W2010412782","https://openalex.org/W2105702946","https://openalex.org/W2079959396","https://openalex.org/W2130980513","https://openalex.org/W2010920120","https://openalex.org/W7035798322","https://openalex.org/W2137808356","https://openalex.org/W2114033955"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
