{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T08:28:41Z","timestamp":1773476921543,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3974,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["13B-1"],"award-info":[{"award-number":["13B-1"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,9]]},"DOI":"10.1086\/342208","type":"journal-article","created":{"date-parts":[[2002,9,19]],"date-time":"2002-09-19T14:45:10Z","timestamp":1032446710000},"page":"637-645","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation"],"prefix":"10.1016","volume":"71","author":[{"given":"Fumiko","family":"Saito-Ohara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoji","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kishan Lal","family":"Agarwala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaharu","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Yamakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/342208_bib8","first-page":"A335","article-title":"The largest intra-gene deletion of the dystrophin gene identified in a DMD case with full clinical spectrum of dystrophin deficiency","volume":"57","author":"Alimsardjono","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342208_bib9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/0165-4608(94)00197-9","article-title":"Clonal origin of Philadelphia chromosome negative cells with trisomy 8 appearing during the course of alpha-interferon therapy for Ph positive chronic myelocytic leukemia","volume":"81","author":"Ariyama","year":"1995","journal-title":"Cancer Genet Cytogenet"},{"key":"10.1086\/342208_bib10","doi-asserted-by":"crossref","first-page":"27995","DOI":"10.1074\/jbc.270.47.27995","article-title":"Cdc42 and PAK-mediated signaling leads to Jun kinase and p38 mitogen-activated protein kinase activation","volume":"270","author":"Bagrodia","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/342208_bib11","first-page":"692","article-title":"Clinical and pathological studies on intellectual impairment in Duchenne muscular dystrophy, with special reference to patients with severe intellectual impairment [in Japanese]","volume":"27","author":"Bandoh","year":"1987","journal-title":"Rinsyo Shinkeigaku"},{"key":"10.1086\/342208_bib12","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/S0960-8966(99)00108-X","article-title":"Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies","volume":"10","author":"Bardoni","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/342208_bib13","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/31940","article-title":"Oligophrenin-1 encodes a rho GAP protein involved in X-linked mental retardation","volume":"392","author":"Billuart","year":"1998","journal-title":"Nature"},{"key":"10.1086\/342208_bib14","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1469-8749.1995.tb12000.x","article-title":"Deletion status and intellectual impairment in Duchenne muscular dystrophy","volume":"37","author":"Bushby","year":"1995","journal-title":"Dev Med Child Neurol"},{"key":"10.1086\/342208_bib15","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/35088558","article-title":"Monogenic causes of X-linked mental retardation","volume":"2","author":"Chelly","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1086\/342208_bib16","first-page":"425","article-title":"Clinical mitochondrial genetics","volume":"36","author":"Chinnery","year":"1999","journal-title":"J Med Genet"},{"key":"10.1086\/342208_bib17","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/487","article-title":"Mutations in GDI1 are responsible for X-linked non-specific mental retardation","volume":"19","author":"D'Adamo","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/342208_bib18","doi-asserted-by":"crossref","first-page":"9586","DOI":"10.1016\/S0021-9258(18)92860-7","article-title":"Bovine mitochondrial ribosomes possess a high-affinity binding site for guanine nucleotides","volume":"266","author":"Denslow","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1086\/342208_bib19","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1136\/adc.40.211.296","article-title":"Intellectual impairment in muscular dystrophy","volume":"40","author":"Dubowitz","year":"1965","journal-title":"Arch Dis Child"},{"key":"10.1086\/342208_bib20","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1212\/WNL.55.4.559","article-title":"Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy","volume":"55","author":"Felisari","year":"2000","journal-title":"Neurology"},{"key":"10.1086\/342208_bib21","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320070407","article-title":"Nonspecific X-linked mental retardation II: the frequency in British Columbia","volume":"7","author":"Herbst","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1086\/342208_bib22","first-page":"6629","article-title":"Identification of cIAP1 as a candidate target gene within an amplicon at 11q22 in esophageal squamous cell carcinomas","volume":"61","author":"Imoto","year":"2001","journal-title":"Cancer Res"},{"key":"10.1086\/342208_bib23","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1006\/geno.1993.1297","article-title":"High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization","volume":"17","author":"Inazawa","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/342208_bib24","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1","article-title":"PLP duplication causing Pelizaeus-Merzbacher disease: phenotype manifestation and molecular mechanism","volume":"45","author":"Inoue","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/342208_bib25","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/ng1096-177","article-title":"A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness","volume":"14","author":"Jin","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/342208_bib26","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1038\/80002","article-title":"Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation","volume":"26","author":"Kutsche","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/342208_bib27","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/S0378-1119(98)00293-5","article-title":"YAC\/STS map of 15 Mb of Xp21.3-p11.3, at 100 kb resolution, with refined comparisons of genetic distances and DMD structure","volume":"215","author":"Nataraja","year":"1998","journal-title":"Gene"},{"key":"10.1086\/342208_bib28","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF00691328","article-title":"Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins","volume":"54","author":"Renier","year":"1981","journal-title":"Acta Neuropathol"},{"key":"10.1086\/342208_bib29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000133885","article-title":"Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH","volume":"68","author":"Saito","year":"1995","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/342208_bib30","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S0960-9822(97)70091-5","article-title":"Human p21-activated kinase (Pak1) regulates actin organization in mammalian cells","volume":"7","author":"Sells","year":"1997","journal-title":"Curr Biol"},{"key":"10.1086\/342208_bib31","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1212\/WNL.50.6.1749","article-title":"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease","volume":"50","author":"Sistermans","year":"1998","journal-title":"Neurology"},{"key":"10.1086\/342208_bib32","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0005-2736(99)00185-6","article-title":"Partial characterization of mitochondrial G proteins in adrenal cells","volume":"1463","author":"Sleer","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/342208_bib33","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/1096-8628(200023)97:3<174::AID-AJMG1034>3.0.CO;2-4","article-title":"Splitting and lumping in the nosology of XLMR","volume":"97","author":"Stevenson","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/342208_bib34","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0143-4004(98)90010-8","article-title":"Overlay blot identification of GTP-binding proteins in mitochondria from human placenta","volume":"19","author":"Thomson","year":"1998","journal-title":"Placenta"},{"key":"10.1086\/342208_bib35","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/1096-8628(200023)97:3<221::AID-AJMG1040>3.0.CO;2-Q","article-title":"In search of the MRX genes","volume":"97","author":"Toniolo","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/342208_bib36","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/384567a0","article-title":"Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome","volume":"384","author":"Trivier","year":"1996","journal-title":"Nature"},{"key":"10.1086\/342208_bib37","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0387-7604(99)00126-6","article-title":"Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation","volume":"22","author":"Wibawa","year":"2000","journal-title":"Brain Dev"},{"key":"10.1086\/342208_bib38","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1542\/peds.29.6.968","article-title":"Intellectual function in childhood progressive muscular dystrophy","volume":"29","author":"Worden","year":"1962","journal-title":"Pediatrics"},{"key":"10.1086\/342208_bib39","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/72829","article-title":"A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation","volume":"24","author":"Zemni","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/342208_bib40","doi-asserted-by":"crossref","first-page":"33169","DOI":"10.1074\/jbc.271.52.33169","article-title":"The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor","volume":"271","author":"Zheng","year":"1996","journal-title":"J Biol Chem"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603449?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603449?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:04:11Z","timestamp":1757574251000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707603449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,9]]}},"alternative-id":["S0002929707603449"],"URL":"https:\/\/doi.org\/10.1086\/342208","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1086\/342208","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2002 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}