Literature DB >> 11317673

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.

N Iwasaki, I Okabe, M Y Momoi, H Ohashi, M Ogata, Y Iwamoto.   

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Year:  2001        PMID: 11317673     DOI: 10.1007/s001250051631

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


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  11 in total

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

Authors:  N Shihara; Y Horikawa; T Onishi; M Ono; K Kashimada; J Takeda
Journal:  Diabetologia       Date:  2004-05-28       Impact factor: 10.122

Review 2.  Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution.

Authors:  Marco Zaffanello; Milena Brugnara; Michele Zuffante; Massimo Franchini; Vassilios Fanos
Journal:  Int Urol Nephrol       Date:  2008-08-09       Impact factor: 2.370

3.  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

4.  Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.

Authors:  L W Harries; S Ellard; R W A Jones; A T Hattersley; C Bingham
Journal:  Diabetologia       Date:  2004-04-15       Impact factor: 10.122

5.  HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

Authors:  Christine Okorn; Anne Goertz; Udo Vester; Bodo B Beck; Carsten Bergmann; Sandra Habbig; Jens König; Martin Konrad; Dominik Müller; Jun Oh; Nadina Ortiz-Brüchle; Ludwig Patzer; Raphael Schild; Tomas Seeman; Hagen Staude; Julia Thumfart; Burkhard Tönshoff; Ulrike Walden; Lutz Weber; Marcin Zaniew; Hildegard Zappel; Peter F Hoyer; Stefanie Weber
Journal:  Pediatr Nephrol       Date:  2019-01-21       Impact factor: 3.714

6.  Hypothesis: a new role for the Renin-Angiotensin system in ureteric bud branching.

Authors:  Ihor V Yosypiv
Journal:  Organogenesis       Date:  2004-07       Impact factor: 2.500

7.  Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5).

Authors:  Eun Ky Kim; Ji Seon Lee; Hae Il Cheong; Sung Soo Chung; Soo Heon Kwak; Kyong Soo Park
Journal:  Genomics Inform       Date:  2014-12-31

Review 8.  HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Authors:  Rhian L Clissold; Alexander J Hamilton; Andrew T Hattersley; Sian Ellard; Coralie Bingham
Journal:  Nat Rev Nephrol       Date:  2014-12-23       Impact factor: 28.314

9.  Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.

Authors:  Naoko Iwasaki; Masashi Tsurumi; Kuniya Asai; Wataru Shimuzu; Atsushi Watanabe; Makiko Ogata; Miho Takizawa; Risa Ide; Toshiyuki Yamamoto; Kayoko Saito
Journal:  Hum Genome Var       Date:  2016-07-14

10.  Identification of dysregulated modules based on network entropy in type 1 diabetes.

Authors:  Yan Zheng; Liwei Liu; Jifeng Ye
Journal:  Exp Ther Med       Date:  2018-01-29       Impact factor: 2.447

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