{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:33:16Z","timestamp":1791423196049,"version":"4.3.3"},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2006,8,1]],"date-time":"2006-08-01T00:00:00Z","timestamp":1154390400000},"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":2544,"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":[[2006,8]]},"DOI":"10.1086\/505885","type":"journal-article","created":{"date-parts":[[2006,7,5]],"date-time":"2006-07-05T20:43:05Z","timestamp":1152132185000},"page":"383-389","source":"Crossref","is-referenced-by-count":187,"title":["Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy"],"prefix":"10.1016","volume":"79","author":[{"given":"Robert A.","family":"Hegele","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henian","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora M.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary A.","family":"Costain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Charlton-Menys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Wilson","family":"Rodger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul N.","family":"Durrington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/505885_bib3","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1086\/505885_bib4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.tcm.2004.02.001","article-title":"Phenomics, lipodystrophy, and the metabolic syndrome","volume":"14","author":"Hegele","year":"2004","journal-title":"Trends Cardiovasc Med"},{"key":"10.1086\/505885_bib5","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1042\/BST0331073","article-title":"Diseases of adipose tissue: genetic and acquired lipodystrophies","volume":"33","author":"Capeau","year":"2005","journal-title":"Biochem Soc Trans"},{"issue":"Suppl 1","key":"10.1086\/505885_bib6","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1038\/sj.ijo.0802911","article-title":"Lessons from human mutations in PPAR\u03b3","volume":"29","author":"Hegele","year":"2005","journal-title":"Int J Obes (Lond)"},{"key":"10.1086\/505885_bib7","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/00005792-200303000-00007","article-title":"Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature","volume":"82","author":"Misra","year":"2003","journal-title":"Medicine (Baltimore)"},{"key":"10.1086\/505885_bib8","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/01.md.0000111061.69212.59","article-title":"Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature","volume":"83","author":"Misra","year":"2004","journal-title":"Medicine (Baltimore)"},{"key":"10.1086\/505885_bib9","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s100380170072","article-title":"Single-nucleotide polymorphisms of the nuclear lamina proteome","volume":"46","author":"Hegele","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1086\/505885_bib10","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1038\/ng1630","article-title":"Genome-wide analysis of mouse transcripts using exon microarrays and factor graphs","volume":"37","author":"Frey","year":"2005","journal-title":"Nat Genet"},{"key":"10.1086\/505885_bib11","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\/505885_bib12","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1034\/j.1399-0004.2002.610407.x","article-title":"Cardiomyopathy in congenital complete lipodystrophy","volume":"61","author":"Bhayana","year":"2002","journal-title":"Clin Genet"},{"key":"10.1086\/505885_bib13","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.2337\/diabetes.51.12.3586","article-title":"PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy","volume":"51","author":"Hegele","year":"2002","journal-title":"Diabetes"},{"key":"10.1086\/505885_bib14","first-page":"1672","article-title":"Lipodystrophie progressive: syndrome de Barraquer-Simons","volume":"86","author":"Barraquer-Ferre","year":"1935","journal-title":"Presse Med"},{"key":"10.1086\/505885_bib15","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF00483251","article-title":"On lipodystrophia progressiva (follow-up study of the case published by A. Simons in 1911 for the first time in German literature) [in German]","volume":"210","author":"Langhof","year":"1960","journal-title":"Arch Klin Exp Dermatol"},{"key":"10.1086\/505885_bib16","first-page":"749","article-title":"Nephropathies in progressive lipodystrophy or Barraquer-Simons disease [in French]","volume":"12","author":"Jeune","year":"1965","journal-title":"Ann Pediatr (Paris)"},{"key":"10.1086\/505885_bib17","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s002960050106","article-title":"A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease","volume":"19","author":"Biasi","year":"1999","journal-title":"Rheumatol Int"},{"key":"10.1086\/505885_bib18","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/j.1525-1470.1996.tb00728.x","article-title":"Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases","volume":"13","author":"Quecedo","year":"1996","journal-title":"Pediatr Dermatol"},{"key":"10.1086\/505885_bib19","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ajmg.a.20623","article-title":"Two new cases of Barraquer-Simons syndrome","volume":"126","author":"Ferrarini","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1086\/505885_bib20","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF01468772","article-title":"Membranoproliferative glomerulonephritis with partial lipodystrophy: discordant occurrence in identical twins","volume":"54","author":"Reichel","year":"1976","journal-title":"Klin Wochenschr"},{"key":"10.1086\/505885_bib21","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1210\/jcem-46-5-800","article-title":"Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters","volume":"46","author":"Bier","year":"1978","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/505885_bib22","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1056\/NEJMra040319","article-title":"Intermediate filament proteins and their associated diseases","volume":"351","author":"Omary","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1086\/505885_bib23","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/0470093765.ch4","article-title":"Components of the nuclear envelope and their role in human disease","volume":"264","author":"Worman","year":"2005","journal-title":"Novartis Found Symp"},{"key":"10.1086\/505885_bib24","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.2005.00447.x","article-title":"LMNA mutation position predicts organ system involvement in laminopathies","volume":"68","author":"Hegele","year":"2005","journal-title":"Clin Genet"},{"key":"10.1086\/505885_bib25","doi-asserted-by":"crossref","first-page":"10211","DOI":"10.1093\/nar\/15.24.10211","article-title":"Characterization of human DNA sequences synthesized at the onset of S-phase","volume":"15","author":"Tribioli","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/505885_bib26","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF01726689","article-title":"Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin","volume":"99","author":"Hoger","year":"1990","journal-title":"Chromosoma"},{"key":"10.1086\/505885_bib27","doi-asserted-by":"crossref","first-page":"3499","DOI":"10.1128\/MCB.12.8.3499","article-title":"The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase","volume":"12","author":"Biamonti","year":"1992","journal-title":"Mol Cell Biol"},{"key":"10.1086\/505885_bib28","doi-asserted-by":"crossref","first-page":"7119","DOI":"10.1073\/pnas.91.15.7119","article-title":"Fine mapping of a replication origin of human DNA","volume":"91","author":"Giacca","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/505885_bib29","doi-asserted-by":"crossref","first-page":"10428","DOI":"10.1073\/pnas.0401424101","article-title":"Lamin B1 is required for mouse development and nuclear integrity","volume":"101","author":"Vergnes","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/505885_bib30","doi-asserted-by":"crossref","first-page":"9848","DOI":"10.1074\/jbc.M408310200","article-title":"Noncanonical DNA elements in the lamin B2 origin of DNA replication","volume":"280","author":"Kusic","year":"2005","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:S0002929707631474?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707631474?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,7]],"date-time":"2023-05-07T23:17:59Z","timestamp":1683501479000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707631474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["S0002929707631474"],"URL":"https:\/\/doi.org\/10.1086\/505885","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2006,8]]}}}