These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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]
3. Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1alpha/tcf1 and hnf1beta/tcf2, abundantly expressed in liver, pancreas, gut and kidney of zebrafish. Gong HY; Lin CJ; Chen MH; Hu MC; Lin GH; Zhou Y; Zon LI; Wu JL Gene; 2004 Aug; 338(1):35-46. PubMed ID: 15302404 [TBL] [Abstract][Full Text] [Related]
4. Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene. Cervin C; Orho-Melander M; Ridderstråle M; Lehto M; Barg S; Groop L; Cilio CM Diabetologia; 2002 Dec; 45(12):1703-8. PubMed ID: 12488960 [TBL] [Abstract][Full Text] [Related]
6. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399 [TBL] [Abstract][Full Text] [Related]
7. Regulation of the expression of human organic anion transporter 3 by hepatocyte nuclear factor 1alpha/beta and DNA methylation. Kikuchi R; Kusuhara H; Hattori N; Shiota K; Kim I; Gonzalez FJ; Sugiyama Y Mol Pharmacol; 2006 Sep; 70(3):887-96. PubMed ID: 16793932 [TBL] [Abstract][Full Text] [Related]
8. Effect of mutations in HNF-1alpha and HNF-1beta on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells. Gu N; Suzuki N; Takeda J; Adachi T; Tsujimoto G; Aoki N; Ishihara A; Tsuda K; Yasuda K Biochem Biophys Res Commun; 2004 Dec; 325(1):308-13. PubMed ID: 15522234 [TBL] [Abstract][Full Text] [Related]
9. Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations. Thomas H; Badenberg B; Bulman M; Lemm I; Lausen J; Kind L; Roosen S; Ellard S; Hattersley AT; Ryffel GU Biol Chem; 2002 Nov; 383(11):1691-700. PubMed ID: 12530534 [TBL] [Abstract][Full Text] [Related]
10. vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Sun Z; Hopkins N Genes Dev; 2001 Dec; 15(23):3217-29. PubMed ID: 11731484 [TBL] [Abstract][Full Text] [Related]
11. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. Saleem RA; Banerjee-Basu S; Berry FB; Baxevanis AD; Walter MA Hum Mol Genet; 2003 Nov; 12(22):2993-3005. PubMed ID: 14506133 [TBL] [Abstract][Full Text] [Related]
12. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. Schneider KU; Marchini A; Sabherwal N; Röth R; Niesler B; Marttila T; Blaschke RJ; Lawson M; Dumic M; Rappold G Hum Mutat; 2005 Jul; 26(1):44-52. PubMed ID: 15931687 [TBL] [Abstract][Full Text] [Related]
13. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. Footz T; Idrees F; Acharya M; Kozlowski K; Walter MA Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):2599-606. PubMed ID: 19218601 [TBL] [Abstract][Full Text] [Related]
14. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Beysen D; Moumné L; Veitia R; Peters H; Leroy BP; De Paepe A; De Baere E Hum Mol Genet; 2008 Jul; 17(13):2030-8. PubMed ID: 18372316 [TBL] [Abstract][Full Text] [Related]
15. A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. Sticht H; Hashemolhosseini S Med Hypotheses; 2006; 67(3):482-7. PubMed ID: 16697534 [TBL] [Abstract][Full Text] [Related]
16. Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line. Thomas H; Senkel S; Erdmann S; Arndt T; Turan G; Klein-Hitpass L; Ryffel GU Nucleic Acids Res; 2004 Nov; 32(19):e150. PubMed ID: 15520459 [TBL] [Abstract][Full Text] [Related]
17. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Haumaitre C; Barbacci E; Jenny M; Ott MO; Gradwohl G; Cereghini S Proc Natl Acad Sci U S A; 2005 Feb; 102(5):1490-5. PubMed ID: 15668393 [TBL] [Abstract][Full Text] [Related]
18. Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. Bohn S; Thomas H; Turan G; Ellard S; Bingham C; Hattersley AT; Ryffel GU J Am Soc Nephrol; 2003 Aug; 14(8):2033-41. PubMed ID: 12874457 [TBL] [Abstract][Full Text] [Related]
19. Point mutations and deletions in the znfn1a1/ikaros gene in chemically induced murine lymphomas. Karlsson A; Söderkvist P; Zhuang SM Cancer Res; 2002 May; 62(9):2650-3. PubMed ID: 11980663 [TBL] [Abstract][Full Text] [Related]
20. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Ilmarinen T; Eskelin P; Halonen M; Rüppell T; Kilpikari R; Torres GD; Kangas H; Ulmanen I Hum Mutat; 2005 Oct; 26(4):322-31. PubMed ID: 16114041 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]