Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.K161del1
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HNF1B

NM_000458.4:p.K161del1

Associated Papers

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

Thomas CP et al.

Kidney International, 2008

[Molecular scanning of MODY1 gene mutations in pedigrees of early onset type 2 diabetes in Beijing].

Jia HT et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006

[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].

Zhang R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

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

Edghill EL et al.

Journal of Medical Genetics, 2006

Roles of HNF-1beta in kidney development and congenital cystic diseases.

Igarashi P et al.

Kidney International, 2005

Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.

Wang C et al.

Acta Diabetologica, 2004

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

Bingham C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004

The HNF1beta transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations.

Wu G et al.

European Journal of Biochemistry, 2004

[Scanning HNF-1 alpha gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees].

Fang QC et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers.

Sagen JV et al.

Kidney International, 2003

Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.

Bohn S et al.

Journal of the American Society of Nephrology : Jasn, 2003

Molecular etiologies of MODY and other early-onset forms of diabetes.

Shih DQ et al.

Current Diabetes Reports, 2002

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 et al.

Human Mutation, 2001

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

Wild W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

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 et al.

Human Molecular Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."