{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:50:24Z","timestamp":1791975024590,"version":"4.4.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2002,8,1]],"date-time":"2002-08-01T00:00:00Z","timestamp":1028160000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4005,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,8]]},"DOI":"10.1086\/341908","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T17:28:29Z","timestamp":1033406909000},"page":"426-431","source":"Crossref","is-referenced-by-count":470,"title":["Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A\/C"],"prefix":"10.1016","volume":"71","author":[{"given":"Giuseppe","family":"Novelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Muchir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Sangiuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Helbling-Leclerc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"D\u2019Apice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Massart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Capon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Sbraccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Federici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Lauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosimo","family":"Tudisco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Pallotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciano","family":"Merlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/341908_bib2","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1046\/j.1460-9592.2000.01661.x","article-title":"High incidence of sudden death of conduction system and myocardial disease due to lamins A\/C gene mutation","volume":"23","author":"B\u00e9cane","year":"2000","journal-title":"Pacing Clin Electrophysiol"},{"key":"10.1086\/341908_bib3","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1086\/341908_bib4","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C causes autosomal dominant Emery Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/341908_bib5","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/341908_bib6","first-page":"313","article-title":"A case of cleidocranial dysostosis","volume":"65","author":"Cavallazzi","year":"1960","journal-title":"Riv Clin Pediatr"},{"key":"10.1086\/341908_bib7","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1086\/339274","article-title":"Homozygous defects in LMNA, encoding lamin A\/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/341908_bib8","doi-asserted-by":"crossref","first-page":"17381","DOI":"10.1074\/jbc.C200038200","article-title":"Structure of the globular tail of nuclear lamin","volume":"277","author":"Dhe-Paganon","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/341908_bib9","first-page":"33","article-title":"Familial lipoatrophic diabetes with dominant transmission, a new syndrome","volume":"43","author":"Dunnigan","year":"1974","journal-title":"Q J Med"},{"key":"10.1086\/341908_bib10","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1086\/341908_bib11","first-page":"93","article-title":"Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia","volume":"146","author":"Freidenberg","year":"1992","journal-title":"Am J Dis Child"},{"key":"10.1086\/341908_bib12","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/S0969-2126(02)00777-3","article-title":"The Ig-like structure of the C-terminal domain of lamin A\/C, mutated in muscular dystrophies, cardiomyopathy and partial lipodystrophy","volume":"10","author":"Krimm","year":"2002","journal-title":"Structure"},{"key":"10.1086\/341908_bib13","first-page":"519","article-title":"Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping","volume":"56","author":"Kruglyak","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/341908_bib14","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1093\/hmg\/11.7.769","article-title":"A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies","volume":"11","author":"Lloyd","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/341908_bib15","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","article-title":"Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C","volume":"268","author":"Lin","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1086\/341908_bib16","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of mutations in the gene encoding lamins A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/341908_bib17","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1086\/302869","article-title":"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy","volume":"66","author":"Raffaele di Barletta","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/341908_bib18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/72807","article-title":"LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy","volume":"24","author":"Shackleton","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/341908_bib19","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1210\/jcem.87.2.8258","article-title":"Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia","volume":"87","author":"Simha","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/341908_bib20","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1086\/302836","article-title":"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A\/C","volume":"66","author":"Speckman","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"Suppl 35","key":"10.1086\/341908_bib21","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/1097-4644(2000)79:35+<99::AID-JCB1132>3.0.CO;2-W","article-title":"Subnuclear dynamics and transcription factor function","author":"Stenoien","year":"2000","journal-title":"J Cell Biochem"},{"key":"10.1086\/341908_bib22","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ajmg.1320240215","article-title":"Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?","volume":"24","author":"Tenconi","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1086\/341908_bib23","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/1096-8628(20000918)94:3<237::AID-AJMG10>3.0.CO;2-9","article-title":"Familial mandibuloacral dysplasia: report of an additional Italian patient","volume":"94","author":"Tudisco","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/341908_bib24","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S1471-4914(01)02260-2","article-title":"Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans","volume":"8","author":"Van Bohkoven","year":"2002","journal-title":"Trends Mol Med"},{"key":"10.1086\/341908_bib25","doi-asserted-by":"crossref","unstructured":"Van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HFM, de Visser M. Lamin A\/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology (in press)","DOI":"10.1212\/WNL.59.4.620"},{"key":"10.1086\/341908_bib26","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1242\/jcs.114.24.4459","article-title":"Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q\/W mutations in lamin A\/C gene","volume":"114","author":"Vigouroux","year":"2001","journal-title":"J Cell Sci"},{"key":"10.1086\/341908_bib27","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2337\/diabetes.49.11.1958","article-title":"Lamin A\/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy","volume":"49","author":"Vigouroux","year":"2000","journal-title":"Diabetes"},{"key":"10.1086\/341908_bib28","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1083\/jcb.137.6.1199","article-title":"Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis","volume":"137","author":"Yang","year":"1997","journal-title":"J Cell Biol"},{"key":"10.1086\/341908_bib29","first-page":"291","article-title":"New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys","volume":"7","author":"Young","year":"1971","journal-title":"Birth Defects Orig Artic Ser"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707604893?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707604893?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T08:54:11Z","timestamp":1622192051000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707604893"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["S0002929707604893"],"URL":"https:\/\/doi.org\/10.1086\/341908","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,8]]}}}