{"id":"https://openalex.org/W7168024952","doi":"https://doi.org/10.1111/nyas.70340","title":"Escape From X\u2010Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation","display_name":"Escape From X\u2010Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation","publication_year":2026,"publication_date":"2026-07-01","ids":{"openalex":"https://openalex.org/W7168024952","doi":"https://doi.org/10.1111/nyas.70340","pmid":"https://pubmed.ncbi.nlm.nih.gov/42435759","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13355919"},"language":"en","primary_location":{"id":"doi:10.1111/nyas.70340","doi":"https://doi.org/10.1111/nyas.70340","is_oa":true,"landing_page_url":"https://doi.org/10.1111/nyas.70340","pdf_url":null,"source":{"id":"https://openalex.org/S8802318","display_name":"Annals of the New York Academy of Sciences","issn_l":"0077-8923","issn":["0077-8923","1749-6632"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the New York Academy of Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1111/nyas.70340","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5079985195","display_name":"Onur Emre Onat","orcid":"https://orcid.org/0000-0002-7105-1572","observed_orcids":["https://orcid.org/0000-0002-7105-1572"]},"institutions":[{"id":"https://openalex.org/I3125175737","display_name":"Bezmi\u00e2lem Vak\u0131f \u00dcniversitesi","ror":"https://ror.org/04z60tq39","country_code":"TR","type":"education","lineage":["https://openalex.org/I3125175737"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Onur Emre Onat","raw_affiliation_strings":["Beykoz Institute of Life Sciences and Biotechnology Bezmialem Vak\u0131f University  \u0130stanbul T\u00fcrkiye","Department of Molecular Biology Bezmialem Vak\u0131f University  \u0130stanbul T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beykoz Institute of Life Sciences and Biotechnology Bezmialem Vak\u0131f University  \u0130stanbul T\u00fcrkiye","institution_ids":["https://openalex.org/I3125175737"]},{"raw_affiliation_string":"Department of Molecular Biology Bezmialem Vak\u0131f University  \u0130stanbul T\u00fcrkiye","institution_ids":["https://openalex.org/I3125175737"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017456051","display_name":"Tayfun \u00d6z\u00e7el\u0131k","orcid":"https://orcid.org/0000-0001-5937-1082","observed_orcids":["https://orcid.org/0000-0001-5937-1082"]},"institutions":[{"id":"https://openalex.org/I168864056","display_name":"Bilkent University","ror":"https://ror.org/02vh8a032","country_code":"TR","type":"education","lineage":["https://openalex.org/I168864056"]},{"id":"https://openalex.org/I4387152795","display_name":"National Nanotechnology Research Center","ror":"https://ror.org/00pcrxq11","country_code":"TR","type":"nonprofit","lineage":["https://openalex.org/I168864056","https://openalex.org/I4387152795"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tayfun Ozcelik","raw_affiliation_strings":["Department of Molecular Biology and Genetics Bilkent University  Ankara T\u00fcrkiye","Institute of Materials Science and Nanotechnology, National Nanotechnology Research Center Bilkent University  Ankara T\u00fcrkiye","Neuroscience Program, Graduate School of Engineering and Science Bilkent University  Ankara T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics Bilkent University  Ankara T\u00fcrkiye","institution_ids":["https://openalex.org/I168864056"]},{"raw_affiliation_string":"Institute of Materials Science and Nanotechnology, National Nanotechnology Research Center Bilkent University  Ankara T\u00fcrkiye","institution_ids":["https://openalex.org/I168864056","https://openalex.org/I4387152795"]},{"raw_affiliation_string":"Neuroscience Program, Graduate School of Engineering and Science Bilkent University  Ankara T\u00fcrkiye","institution_ids":["https://openalex.org/I168864056"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5079985195"],"corresponding_institution_ids":["https://openalex.org/I3125175737"],"apc_list":{"value":5080,"currency":"USD","value_usd":5080},"apc_paid":{"value":5080,"currency":"USD","value_usd":5080},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.49393284,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"1561","issue":"1","first_page":"e70340","last_page":"e70340"},"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":0.9922000169754028,"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":0.9922000169754028,"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":0.0024999999441206455,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0010999999940395355,"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/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.9750000238418579},{"id":"https://openalex.org/keywords/x","display_name":"X","score":0.8299999833106995},{"id":"https://openalex.org/keywords/unbalanced-translocation","display_name":"unbalanced translocation","score":0.765999972820282},{"id":"https://openalex.org/keywords/x-inactivation-center","display_name":"X inactivation center","score":0.7540000081062317},{"id":"https://openalex.org/keywords/allele-specific-expression","display_name":"allele-specific expression","score":0.6679999828338623},{"id":"https://openalex.org/keywords/male-survival","display_name":"male survival","score":0.5540000200271606},{"id":"https://openalex.org/keywords/autosome-translocation","display_name":"autosome translocation","score":0.7319999933242798}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.9122999906539917},{"id":"https://openalex.org/C119056186","wikidata":"https://www.wikidata.org/wiki/Q1431332","display_name":"Gene silencing","level":3,"score":0.8515999913215637},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7005000114440918},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6801000237464905},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6008999943733215},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4957999885082245},{"id":"https://openalex.org/C4323932","wikidata":"https://www.wikidata.org/wiki/Q898914","display_name":"X-inactivation","level":4,"score":0.4878000020980835},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.46560001373291016},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.45649999380111694},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.4377000033855438},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.39629998803138733},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3474999964237213},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.3375999927520752},{"id":"https://openalex.org/C86546924","wikidata":"https://www.wikidata.org/wiki/Q3454460","display_name":"Chromosomal rearrangement","level":5,"score":0.3174000084400177},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.29580000042915344},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.28859999775886536},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.25769999623298645},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.2551000118255615}],"mesh":[{"descriptor_ui":"D002888","descriptor_name":"Chromosomes, Human, Pair 19","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D049951","descriptor_name":"X Chromosome Inactivation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/nyas.70340","doi":"https://doi.org/10.1111/nyas.70340","is_oa":true,"landing_page_url":"https://doi.org/10.1111/nyas.70340","pdf_url":null,"source":{"id":"https://openalex.org/S8802318","display_name":"Annals of the New York Academy of Sciences","issn_l":"0077-8923","issn":["0077-8923","1749-6632"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the New York Academy of Sciences","raw_type":"journal-article"},{"id":"pmid:42435759","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42435759","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":"Annals of the New York Academy of Sciences","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13355919","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13355919/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann N Y Acad Sci","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1111/nyas.70340","doi":"https://doi.org/10.1111/nyas.70340","is_oa":true,"landing_page_url":"https://doi.org/10.1111/nyas.70340","pdf_url":null,"source":{"id":"https://openalex.org/S8802318","display_name":"Annals of the New York Academy of Sciences","issn_l":"0077-8923","issn":["0077-8923","1749-6632"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the New York Academy of Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W1512591645","https://openalex.org/W1965290834","https://openalex.org/W1969410155","https://openalex.org/W1980548655","https://openalex.org/W1981224038","https://openalex.org/W1983093781","https://openalex.org/W1989921083","https://openalex.org/W1999355802","https://openalex.org/W2008110268","https://openalex.org/W2023986198","https://openalex.org/W2029272045","https://openalex.org/W2037917566","https://openalex.org/W2040624896","https://openalex.org/W2046658771","https://openalex.org/W2060199527","https://openalex.org/W2079094389","https://openalex.org/W2097468611","https://openalex.org/W2102462903","https://openalex.org/W2108225960","https://openalex.org/W2127621682","https://openalex.org/W2129706114","https://openalex.org/W2130001787","https://openalex.org/W2140244319","https://openalex.org/W2144594443","https://openalex.org/W2150601517","https://openalex.org/W2153572643","https://openalex.org/W2159542125","https://openalex.org/W2163096090","https://openalex.org/W2166982387","https://openalex.org/W2282541395","https://openalex.org/W2912238699","https://openalex.org/W3158263532","https://openalex.org/W4212961716","https://openalex.org/W4391035666","https://openalex.org/W4404369323"],"related_works":["https://openalex.org/W7221675806","https://openalex.org/W3158263532","https://openalex.org/W7051892529","https://openalex.org/W2166982387","https://openalex.org/W2040624896","https://openalex.org/W6889478204","https://openalex.org/W1999909630","https://openalex.org/W1885332256","https://openalex.org/W1682204198","https://openalex.org/W1974817854"],"abstract_inverted_index":{"X;autosome":[0],"translocations":[1],"allow":[2],"us":[3],"to":[4,27,44],"study":[5],"how":[6],"X-chromosome":[7],"inactivation":[8],"(XCI)":[9],"spreads":[10],"into":[11],"autosomal":[12,96,126,163],"DNA":[13],"in":[14,64,117,144],"vivo.":[15],"We":[16],"re-evaluated":[17],"a":[18,45,53,148,167],"male":[19],"patient":[20],"with":[21,156,173],"an":[22,137],"inherited":[23],"unbalanced":[24,177],"X;19":[25],"translocation":[26],"assess":[28],"XCI-associated":[29],"silencing":[30,122,145,160],"of":[31,49,123],"the":[32,42,68,74,79,86,90,118,124,162],"translocated":[33,125],"chromosome":[34,108],"19":[35,109],"segment.":[36,127],"High-resolution":[37],"SNP":[38],"array":[39],"analysis":[40],"refined":[41],"rearrangement":[43],"terminal":[46],"19p13.3":[47],"deletion":[48],"<0.21":[50],"Mb":[51,55],"and":[52,66,129,158,165],"\u223c95.4":[54],"duplication":[56],"spanning":[57],"Xq11.1-Xqter.":[58],"XCI":[59],"testing":[60],"showed":[61,114],"opposite":[62],"patterns":[63],"mother":[65,71],"son:":[67],"balanced":[69],"carrier":[70],"preferentially":[72,81],"inactivated":[73,82],"normal":[75],"X":[76],"chromosome,":[77],"whereas":[78],"proband":[80],"der(19),":[83],"which":[84],"carries":[85],"duplicated":[87],"Xq":[88],"containing":[89],"X-inactivation":[91],"center.":[92],"To":[93],"determine":[94],"whether":[95],"genes":[97],"on":[98],"der(19)":[99],"were":[100,134],"silenced,":[101],"we":[102],"performed":[103],"allele-specific":[104],"expression":[105,116],"assays":[106],"across":[107,161],"loci.":[110],"Several":[111],"informative":[112],"loci":[113,133],"biallelic":[115],"proband,":[119],"suggesting":[120],"incomplete":[121,157],"Informative":[128],"less":[130],"clearly":[131],"interpretable":[132],"interspersed":[135],"without":[136],"obvious":[138],"positional":[139],"gradient,":[140],"favoring":[141],"gene-specific":[142],"variation":[143],"susceptibility":[146],"over":[147],"simple":[149],"distance-dependent":[150],"model.":[151],"These":[152],"findings":[153],"are":[154],"consistent":[155],"heterogeneous":[159],"segment":[164],"provide":[166],"plausible":[168],"molecular":[169],"explanation":[170],"for":[171],"survival":[172],"this":[174],"otherwise":[175],"severe":[176],"rearrangement.":[178]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2026-07-12T00:00:00"}