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Items: 1 to 20 of 127

1.

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.

2.

The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos.

Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU.

Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4695-700.

3.

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, Cloarec S, Talianidis I, Bellanne-Chantelot C, Cereghini S.

Hum Mol Genet. 2004 Dec 15;13(24):3139-49. Epub 2004 Oct 27.

PMID:
15509593
5.

Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney.

Sauert K, Kahnert S, Roose M, Gull M, Brändli AW, Ryffel GU, Waldner C.

PLoS One. 2012;7(3):e33522. doi: 10.1371/journal.pone.0033522. Epub 2012 Mar 15.

6.

Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function.

Drummond IA, Majumdar A, Hentschel H, Elger M, Solnica-Krezel L, Schier AF, Neuhauss SC, Stemple DL, Zwartkruis F, Rangini Z, Driever W, Fishman MC.

Development. 1998 Dec;125(23):4655-67.

7.
8.

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. Epub 2006 Jun 22.

9.

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

Rebouissou S, Vasiliu V, Thomas C, Bellanné-Chantelot C, Bui H, Chrétien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J.

Hum Mol Genet. 2005 Mar 1;14(5):603-14. Epub 2005 Jan 13.

PMID:
15649945
11.

Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.

Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN.

J Biol Chem. 2004 Feb 13;279(7):5924-33. Epub 2003 Nov 7.

12.

Transcription factor HNF1beta and novel partners affect nephrogenesis.

Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, Ryffel GU.

Kidney Int. 2008 Jul;74(2):210-7. doi: 10.1038/ki.2008.149. Epub 2008 Apr 16.

13.

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 1;15(15):2363-75. Epub 2006 Jun 26.

PMID:
16801329
14.

Identification of a nuclear localization signal in OCT4 and generation of a dominant negative mutant by its ablation.

Pan G, Qin B, Liu N, Schöler HR, Pei D.

J Biol Chem. 2004 Aug 27;279(35):37013-20. Epub 2004 Jun 24.

15.

Essential function of Wnt-4 for tubulogenesis in the Xenopus pronephric kidney.

Saulnier DM, Ghanbari H, Brändli AW.

Dev Biol. 2002 Aug 1;248(1):13-28.

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 1;32(19):e150.

17.
19.

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV.

J Biol Chem. 2004 May 21;279(21):22624-34. Epub 2004 Feb 24.

20.

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.

PMID:
12530534

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