Literature DB >> 15168014

Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes.

N Shihara, Y Horikawa, T Onishi, M Ono, K Kashimada, J Takeda.   

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Year:  2004        PMID： 15168014     DOI： 10.1007/s00125-004-1402-y

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


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  6 in total

1.  Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.

Authors:  N Iwasaki; I Okabe; M Y Momoi; H Ohashi; M Ogata; Y Iwamoto
Journal:  Diabetologia       Date:  2001-03       Impact factor: 10.122

2.  Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus.

Authors:  H Tomura; H Nishigori; K Sho; K Yamagata; I Inoue; J Takeda
Journal:  J Biol Chem       Date:  1999-05-07       Impact factor: 5.157

3.  Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.

Authors:  H Nishigori; S Yamada; T Kohama; H Tomura; K Sho; Y Horikawa; G I Bell; T Takeuchi; J Takeda
Journal:  Diabetes       Date:  1998-08       Impact factor: 9.461

4.  Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

Authors:  Coralie Bingham; Sian Ellard; William G van't Hoff; H Anne Simmonds; Anthony M Marinaki; Michael K Badman; Peter H Winocour; Amanda Stride; Christopher R Lockwood; Anthony J Nicholls; Katharine R Owen; Ghislaine Spyer; Ewan R Pearson; Andrew T Hattersley
Journal:  Kidney Int       Date:  2003-05       Impact factor: 10.612

5.  Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.

Authors:  C Bingham; M P Bulman; S Ellard; L I Allen; G W Lipkin; W G Hoff; A S Woolf; G Rizzoni; G Novelli; A J Nicholls; A T Hattersley
Journal:  Am J Hum Genet       Date:  2000-11-20       Impact factor: 11.025

6.  Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

Authors:  Y Horikawa; N Iwasaki; M Hara; H Furuta; Y Hinokio; B N Cockburn; T Lindner; K Yamagata; M Ogata; O Tomonaga; H Kuroki; T Kasahara; Y Iwamoto; G I Bell
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330
  6 in total
  5 in total

1.  The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.

Authors:  L W Harries; Coralie Bingham; Christine Bellanne-Chantelot; A T Hattersley; Sian Ellard
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

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

Authors:  E L Edghill; C Bingham; S Ellard; A T Hattersley
Journal:  J Med Genet       Date:  2005-06-01       Impact factor: 6.318

Review 3.  Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus.

Authors:  Yukio Horikawa
Journal:  J Diabetes Investig       Date:  2018-03-23       Impact factor: 4.232

4.  HNF1B-mediated repression of SLUG is suppressed by EZH2 in aggressive prostate cancer.

Authors:  Jianqing Wang; Chenxi He; Peng Gao; Siqing Wang; Ruitu Lv; Huihui Zhou; Qidong Zhou; Ke Zhang; Jian Sun; Caibin Fan; Guanxiong Ding; Fei Lan
Journal:  Oncogene       Date:  2019-10-21       Impact factor: 9.867

5.  Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Authors:  Rhian L Clissold; Charles Shaw-Smith; Peter Turnpenny; Benjamin Bunce; Detlef Bockenhauer; Larissa Kerecuk; Simon Waller; Pamela Bowman; Tamsin Ford; Sian Ellard; Andrew T Hattersley; Coralie Bingham
Journal:  Kidney Int       Date:  2016-05-24       Impact factor: 10.612
  5 in total

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