Literature DB >> 10078571

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

S Yamada1, H Tomura, H Nishigori, K Sho, H Mabe, N Iwatani, T Takumi, Y Kito, N Moriya, K Muroya, T Ogata, K Onigata, A Morikawa, I Inoue, J Takeda.   

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Year:  1999        PMID： 10078571     DOI： 10.2337/diabetes.48.3.645

Source DB:  PubMed          Journal:  Diabetes        ISSN： 0012-1797            Impact factor:   9.461


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  12 in total

1.  HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Authors:  Bryn D Webb; Sherin Shaaban; Harald Gaspar; Luis F Cunha; Christian R Schubert; Ke Hao; Caroline D Robson; Wai-Man Chan; Caroline Andrews; Sarah MacKinnon; Darren T Oystreck; David G Hunter; Anthony J Iacovelli; Xiaoqian Ye; Anne Camminady; Elizabeth C Engle; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2012-07-05       Impact factor: 11.025

2.  HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.

Authors:  Barbara L Triggs-Raine; Robert D Kirkpatrick; Sherrie L Kelly; Lisa D Norquay; Peter A Cattini; Kazuya Yamagata; Anthony J G Hanley; Bernard Zinman; Stewart B Harris; P Hugh Barrett; Robert A Hegele
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-19       Impact factor: 11.205

Review 3.  Homeodomain revisited: a lesson from disease-causing mutations.

Authors:  Young-In Chi
Journal:  Hum Genet       Date:  2005-02-23       Impact factor: 4.132

Review 4.  [Possible genetic causes for late complications of diabetes mellitus].

Authors:  T Klemm; R Paschke
Journal:  Med Klin (Munich)       Date:  2000-01-15

5.  Diabetes-associated mutations in a beta-cell transcription factor destabilize an antiparallel "mini-zipper" in a dimerization interface.

Authors:  Q X Hua; M Zhao; N Narayana; S H Nakagawa; W Jia; M A Weiss
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-29       Impact factor: 11.205

6.  Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3.

Authors:  K-A Kim; K Kang; Y-I Chi; I Chang; M-K Lee; K-W Kim; S E Shoelson; M-S Lee
Journal:  Diabetologia       Date:  2003-04-24       Impact factor: 10.122

Review 7.  Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.

Authors:  William E Winter
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

8.  Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.

Authors:  Peng Lu; Geun Bae Rha; Young-In Chi
Journal:  Biochemistry       Date:  2007-10-09       Impact factor: 3.162

9.  Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

Authors:  H Nishigori; H Tomura; N Tonooka; M Kanamori; S Yamada; K Sho; I Inoue; N Kikuchi; K Onigata; I Kojima; T Kohama; K Yamagata; Q Yang; Y Matsuzawa; T Miki; S Seino; M Y Kim; H S Choi; Y K Lee; D D Moore; J Takeda
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-02       Impact factor: 11.205

Review 10.  A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Authors:  Hasan Çubuk; Özlem Yalçın Çapan
Journal:  Protein J       Date:  2021-05-05       Impact factor: 2.371
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