PubMed

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.

Diabetes. 2005 Nov;54(11):3126-32.PMID: 16249435 [PubMed - indexed for MEDLINE]Related articlesFree article

Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.

Carette C, Vaury C, Barthélémy A, Clauin S, Grünfeld JP, Timsit J, Bellanné-Chantelot C.

J Clin Endocrinol Metab. 2007 Jul;92(7):2844-7. Epub 2007 Apr 17.PMID: 17440011 [PubMed - indexed for MEDLINE]Related articlesFree article

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanné-Chantelot C.

J Am Soc Nephrol. 2006 Feb;17(2):497-503. Epub 2005 Dec 21.PMID: 16371430 [PubMed - indexed for MEDLINE]Related articlesFree article

Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.

Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O.

Hum Mutat. 2001 Oct;18(4):356-7.PMID: 11668623 [PubMed - indexed for MEDLINE]Related articles

Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.

Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K.

J Clin Endocrinol Metab. 2002 Aug;87(8):3859-63.PMID: 12161522 [PubMed - indexed for MEDLINE]Related articlesFree article

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Müller D, Riebel T, Horn D, Maringa M, Weber J, Ullmann R, Grüters A.

J Clin Endocrinol Metab. 2009 Jul;94(7):2658-64. Epub 2009 May 5.PMID: 19417042 [PubMed - indexed for MEDLINE]Related articles

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT.

Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.PMID: 17828387 [PubMed - indexed for MEDLINE]Related articles

[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]

Ulinski T, Bensman A, Lescure S.

Arch Pediatr. 2009 Jul;16(7):1049-56. Epub 2009 Apr 9. Review. French. PMID: 19361964 [PubMed - indexed for MEDLINE]Related articles

Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.

Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M.

Metabolism. 2008 Mar;57(3):416-20.PMID: 18249217 [PubMed - indexed for MEDLINE]Related articles

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.

Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-Chantelot C, Chauveau D.

Am J Kidney Dis. 2007 Dec;50(6):1023-7.PMID: 18037103 [PubMed - indexed for MEDLINE]Related articles

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.

Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O.

Hum Mol Genet. 1999 Oct;8(11):2001-8.PMID: 10484768 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families.

Domínguez-López A, Miliar-García A, Segura-Kato YX, Riba L, Esparza-López R, Ramírez-Jiménez S, Rodríguez-Torres M, Canizales-Quinteros S, Cabrera-Vásquez S, Fragoso-Ontiveros V, Aguilar-Salinas CA, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Bravo-Ríos LE, Tusié-Luna MT.

JOP. 2005 May 10;6(3):238-45.PMID: 15883474 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J.

Ann Intern Med. 2004 Apr 6;140(7):510-7.PMID: 15068978 [PubMed - indexed for MEDLINE]Related articlesFree article

In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation.

Fujimoto K, Sasaki T, Hiki Y, Nemoto M, Utsunomiya Y, Yokoo T, Nakai N, Ohashi T, Hosoya T, Eto Y, Tajima N.

Endocr J. 2007 Dec;54(5):757-64. Epub 2007 Sep 18.PMID: 17878605 [PubMed - indexed for MEDLINE]Related articlesFree article

Diagnosis and management of maturity-onset diabetes of the young.

Timsit J, Bellanné-Chantelot C, Dubois-Laforgue D, Velho G.

Treat Endocrinol. 2005;4(1):9-18. Review.PMID: 15649097 [PubMed - indexed for MEDLINE]Related articles

[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]

Rigothier C, Harambat J, Llanas B, Subra JF, Combe C.

Nephrol Ther. 2009 Jul;5(4):287-91. Epub 2009 Apr 1. French. PMID: 19346182 [PubMed - indexed for MEDLINE]Related articles

Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas.

Nammo T, Yamagata K, Tanaka T, Kodama T, Sladek FM, Fukui K, Katsube F, Sato Y, Miyagawa J, Shimomura I.

Gene Expr Patterns. 2008 Jan;8(2):96-106. Epub 2007 Oct 9.PMID: 17996499 [PubMed - indexed for MEDLINE]Related articles

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I, Rica I, Perez de Nanclares G, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castaño L; Spanish MODY Group.

Clin Endocrinol (Oxf). 2007 Oct;67(4):538-46. Epub 2007 Jun 15.PMID: 17573900 [PubMed - indexed for MEDLINE]Related articles

Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.

Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D.

Diabetes. 2007 Mar;56(3):685-93.PMID: 17327436 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

Edghill EL, Bingham C, Ellard S, Hattersley AT.

J Med Genet. 2006 Jan;43(1):84-90. Epub 2005 Jun 1.PMID: 15930087 [PubMed - indexed for MEDLINE]Related articlesFree article