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Literature DB >> 15496559

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

Coralie Bingham, Andrew T Hattersley.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2004 PMID： 15496559 DOI： 10.1093/ndt/gfh348

Source DB: PubMed Journal: Nephrol Dial Transplant ISSN： 0931-0509 Impact factor: 5.992

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58 in total

1. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.

Authors: A M George; D R Love; I Hayes; B Tsang
Journal: Mol Syndromol Date: 2011-12-31

Review 2. Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors: Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal: Nat Rev Gastroenterol Hepatol Date: 2012-07-10 Impact factor: 46.802

Review 3. Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

Authors: Jacobien C Verhave; Anneke P Bech; Jack F M Wetzels; Tom Nijenhuis
Journal: J Am Soc Nephrol Date: 2015-08-28 Impact factor: 10.121

4. The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene.

Authors: Varun Aggarwal; Sriram Krishnamurthy; Anju Seth; Coralie Bingham; Sian Ellard; Sharmila B Mukherjee; Satinder Aneja
Journal: Indian J Pediatr Date: 2010-10-02 Impact factor: 1.967

5. Crystallization of hepatocyte nuclear factor 1beta in complex with DNA.

Authors: Peng Lu; Yun Li; Amanda Gorman; Young-In Chi
Journal: Acta Crystallogr Sect F Struct Biol Cryst Commun Date: 2006-05-05

6. Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Authors: Silvia Ferrè; Jeroen H F de Baaij; Patrick Ferreira; Roger Germann; Johannis B C de Klerk; Marla Lavrijsen; Femke van Zeeland; Hanka Venselaar; Leo A J Kluijtmans; Joost G J Hoenderop; René J M Bindels
Journal: J Am Soc Nephrol Date: 2013-11-07 Impact factor: 10.121

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

1. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.

Review 2. Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Review 3. Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

4. The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene.

5. Crystallization of hepatocyte nuclear factor 1beta in complex with DNA.

6. Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Review 7. Dysregulated glycolysis as an oncogenic event.

8. Selecting causal genes from genome-wide association studies via functionally coherent subnetworks.

9. Renal findings in patients with Mulibrey nanism.

10. RNA processing and mRNA surveillance in monogenic diabetes.