120 related articles for article (PubMed ID: 17878605)
1. 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. PubMed ID: 17878605
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 12161522
[TBL] [Abstract][Full Text] [Related]
3. Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells.
Welters HJ; Senkel S; Klein-Hitpass L; Erdmann S; Thomas H; Harries LW; Pearson ER; Bingham C; Hattersley AT; Ryffel GU; Morgan NG
J Endocrinol; 2006 Jul; 190(1):171-81. PubMed ID: 16837621
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 17440011
[TBL] [Abstract][Full Text] [Related]
5. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.
Haumaitre C; Fabre M; Cormier S; Baumann C; Delezoide AL; Cereghini S
Hum Mol Genet; 2006 Aug; 15(15):2363-75. PubMed ID: 16801329
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16249435
[TBL] [Abstract][Full Text] [Related]
7. A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
Kato T; Tanaka D; Muro S; Jambaljav B; Mori E; Yonemitsu S; Oki S; Inagaki N
Intern Med; 2018 Jul; 57(14):2035-2039. PubMed ID: 29491316
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 18037103
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18249217
[TBL] [Abstract][Full Text] [Related]
10. [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. PubMed ID: 19346182
[TBL] [Abstract][Full Text] [Related]
11. [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. PubMed ID: 19361964
[TBL] [Abstract][Full Text] [Related]
12. [Type 2 diabetes mellitus associated with pancreatic and renal malformations].
Le Berre JP; Bellanné-Chantelot C; Bordier L; Garcia C; Dupuy O; Mayaudon H; Bauduceau B
Rev Med Interne; 2010 Jun; 31(6):e5-6. PubMed ID: 20206420
[TBL] [Abstract][Full Text] [Related]
13. Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.
Maestro MA; Cardalda C; Boj SF; Luco RF; Servitja JM; Ferrer J
Endocr Dev; 2007; 12():33-45. PubMed ID: 17923767
[TBL] [Abstract][Full Text] [Related]
14. Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.
Pace NP; Craus J; Felice A; Vassallo J
BMC Endocr Disord; 2018 May; 18(1):28. PubMed ID: 29764441
[TBL] [Abstract][Full Text] [Related]
15. A rare combination of MODY5 and duodenal atresia in a patient: a case report.
Du T; Zeng N; Wen X; Zhu P; Li W
BMC Med Genet; 2020 Feb; 21(1):24. PubMed ID: 32028929
[TBL] [Abstract][Full Text] [Related]
16. Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release.
Wang L; Coffinier C; Thomas MK; Gresh L; Eddu G; Manor T; Levitsky LL; Yaniv M; Rhoads DB
Endocrinology; 2004 Aug; 145(8):3941-9. PubMed ID: 15142986
[TBL] [Abstract][Full Text] [Related]
17. A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.
Tao T; Yang Y; Hu Z
Medicine (Baltimore); 2020 Jul; 99(31):e21438. PubMed ID: 32756155
[TBL] [Abstract][Full Text] [Related]
18. Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.
Karges B; Bergmann C; Scholl K; Heinze E; Rasche FM; Zerres K; Debatin KM; Wabitsch M; Karges W
Diabetes Care; 2007 Jun; 30(6):1613-4. PubMed ID: 17337496
[No Abstract] [Full Text] [Related]
19. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
Yorifuji T; Kurokawa K; Mamada M; Imai T; Kawai M; Nishi Y; Shishido S; Hasegawa Y; Nakahata T
J Clin Endocrinol Metab; 2004 Jun; 89(6):2905-8. PubMed ID: 15181075
[TBL] [Abstract][Full Text] [Related]
20. HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.
Mancusi S; La Manna A; Bellini G; Scianguetta S; Roberti D; Casale M; Rossi F; Della Ragione F; Perrotta S
J Nephrol; 2013; 26(1):207-12. PubMed ID: 22641569
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
