Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)
dc.contributor.author | Yamagata, K. | en_US |
dc.contributor.author | Oda, N. | en_US |
dc.contributor.author | Kaisaki, P. J. | en_US |
dc.contributor.author | Menzel, S. | en_US |
dc.contributor.author | Furuta, H. | en_US |
dc.contributor.author | Vaxillaire, M. | en_US |
dc.contributor.author | Southam, L. | en_US |
dc.contributor.author | Cox, R. D. | en_US |
dc.contributor.author | Lathrop, G. Mark | en_US |
dc.contributor.author | Boriraj, V. V. | en_US |
dc.contributor.author | Chen, Xiangna N. | en_US |
dc.contributor.author | Cox, Nancy J. | en_US |
dc.contributor.author | Oda, Y. | en_US |
dc.contributor.author | Yano, Hideki | en_US |
dc.contributor.author | LeBeau, M. M. | en_US |
dc.contributor.author | Yamada, S. | en_US |
dc.contributor.author | Nishigori, H. | en_US |
dc.contributor.author | Takeda, J. | en_US |
dc.contributor.author | Fajans, Stefan S. | en_US |
dc.contributor.author | Hattersley, A. T. | en_US |
dc.contributor.author | Iwasaki, N. | en_US |
dc.contributor.author | Hansen, T. | en_US |
dc.contributor.author | Pedersen, O. | en_US |
dc.contributor.author | Polonsky, Kenneth S. | en_US |
dc.contributor.author | Turner, R. C. | en_US |
dc.contributor.author | Velho, G. | en_US |
dc.contributor.author | Chevre, J. C. | en_US |
dc.contributor.author | Froguel, P. | en_US |
dc.contributor.author | Bell, Graeme I. | en_US |
dc.date.accessioned | 2009-06-01T17:43:39Z | |
dc.date.available | 2009-06-01T17:43:39Z | |
dc.date.issued | 1996-12-05 | en_US |
dc.identifier.citation | Yamagata, K; Oda, N; Kaisaki, PJ; Menzel, S; Furuta, H; Vaxillaire, M; Southam, L; Cox, RD; Lathrop, GM; Boriraj, VV; Chen, XN; Cox, NJ; Oda, Y; Yano, H; LeBeau, MM; Yamada, S; Nishigori, H; Takeda, J; Fajans, SS; Hattersley, AT; Iwasaki, N; Hansen, T; Pedersen, O; Polonsky, KS; Turner, RC; Velho, G; Chevre, JC; Froguel, P; Bell, GI. (1996) "Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)." Nature 384(6608): 455-458. <http://hdl.handle.net/2027.42/62900> | en_US |
dc.identifier.issn | 0028-0836 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62900 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8945470&dopt=citation | en_US |
dc.description.abstract | THE disease non-insulin-dependent (type 2) diabetes mellitus (NIDDM) is characterized by abnormally high blood glucose resulting from a relative deficiency of insulin(1). It affects about 2% of the world's population and treatment of diabetes and its complications are an increasing health-care burden(2). Genetic factors are important in the aetiology of NIDDM, and linkage studies are starting to Localize some of the genes that influence the development of this disorder(3). Maturity-onset diabetes of the young (MODY), a single-gene disorder responsible for 2-5% of NIDDM, is characterized by autosomal dominant inheritance and an age of onset of 25 years or younger(4-6). MODY genes have been localized to chromosomes 7, 12 and 20 (refs 5, 7, 8) and clinical studies indicate that mutations in these genes are associated with abnormal patterns of glucose-stimulated insulin secretion(1,9). The gene on chromosome 7 (MODY2) encodes the glycolytic enzyme glucokinase(5) which plays a key role in generating the metabolic signal for insulin secretion and in integrating hepatic glucose uptake. Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1 alpha (HNF-1 alpha, which is encoded by the gene TCF1). HNF-1 alpha is a transcription factor that helps in the tissue-specific regulation of the expression of several liver genes(10,11) and also functions as a weak transactivator of the rat insulin-I gene(12). | en_US |
dc.format.extent | 906173 bytes | |
dc.format.extent | 2489 bytes | |
dc.format.mimetype | application/octet-stream | |
dc.format.mimetype | text/plain | |
dc.publisher | Macmillan Magazines Ltd. | en_US |
dc.source | Nature | en_US |
dc.title | Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3) | en_US |
dc.type | Article | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | UNIV MICHIGAN,MED CTR,DEPT INTERNAL MED,ANN ARBOR,MI 48109 | en_US |
dc.contributor.affiliationother | UNIV CHICAGO,HOWARD HUGHES MED INST,CHICAGO,IL 60637 | en_US |
dc.contributor.affiliationother | UNIV CHICAGO,DEPT BIOCHEM & MOL BIOL,CHICAGO,IL 60637 | en_US |
dc.contributor.affiliationother | UNIV CHICAGO,DEPT MED,CHICAGO,IL 60637 | en_US |
dc.contributor.affiliationother | WELLCOME TRUST CTR HUMAN GENET,OXFORD OX3 7BN,ENGLAND | en_US |
dc.contributor.affiliationother | INST PASTEUR,CNRS,EP10,F-59019 LILLE,FRANCE | en_US |
dc.contributor.affiliationother | GUNMA UNIV,INST MOL & CELLULAR REGULAT,MAEBASHI,GUMMA 371,JAPAN | en_US |
dc.contributor.affiliationother | UNIV EXETER,POSTGRAD MED SCH,DEPT VASC MED & DIABET RES,EXETER EX2 5AX,DEVON,ENGLAND | en_US |
dc.contributor.affiliationother | TOKYO WOMENS MED COLL,CTR DIABET,TOKYO 162,JAPAN | en_US |
dc.contributor.affiliationother | STENO DIABET CTR,DK-2820 GENTOFTE,DENMARK | en_US |
dc.contributor.affiliationother | RADCLIFFE INFIRM,DIABET RES LABS,OXFORD OX2 6HE,ENGLAND | en_US |
dc.contributor.affiliationother | HOP ST LOUIS,INSERM,U358,F-75010 PARIS,FRANCE | en_US |
dc.identifier.pmid | 8945470 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62900/1/384455a0.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1038/384455a0 | en_US |
dc.identifier.source | Nature | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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