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Scholar Results 1 - 10 of about 101 related to Shimajiri: A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. (0.16 sec) 

A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese

- diabetesjournals.org
Y Shimajiri, T Sanke, H Furuta, T Hanabusa, … - Diabetes, 2001 - Am Diabetes Assoc
Pax4 is one of the transcription factors that play an important role in the
differentiation of islet β-cells. We scanned the Pax4 gene in 200 unrelated
Japanese type 2 diabetic patients and found a missense mutation (R121W) in ...
Cited by 45 - Related articles - BL Direct - All 4 versions

Interaction and association analysis of a type 1 diabetes susceptibility locus on …


P Holm, B Rydlander, H Luthman, I Kockum - Diabetes, 2004 - Am Diabetes Assoc
We have previously reported suggestive linkage to chromosome 5p13-q13 in type 1
diabetic families. ISL1, a transcription factor involved in pancreas
development, maps to this region. Sequencing of the ISL1 gene in patients ...
Cited by 23 - Related articles - BL Direct - All 4 versions

[beta]-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in …


A Kanatsuka, Y Tokuyama, O Nozaki, K Matsui … - Metabolism, 2002 - Elsevier
Polymorphisms in [beta ]-cell transcription factor genes, Ala45Thr in the
NeuroD1 gene and Arg121Trp in the Pax4 gene, have been reported. To clarify the
role of these mutations in the pathogenesis of late-onset diabetes, we ...
Cited by 20 - Related articles - BL Direct - All 3 versions

PAX4 gene variations predispose to ketosis-prone diabetes

- oxfordjournals.org
F Mauvais-Jarvis, SB Smith, CL May, SM Leal, … - Human Molecular Genetics, 2004 - Oxford Univ Press
Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed
in subjects of west African origin (west Africans and African-Americans),
characterized by fulminant and phasic insulin dependence, but lacking ...
Cited by 35 - Related articles - BL Direct - All 5 versions

PAX4 mutation (R121W) as a prodiabetic variant in Okinawans


Y Shimajiri, M Shimabukuro, T Tomoyose, H … - Biochemical and Biophysical Research …, 2003 - Elsevier
We previously reported that a missense mutation at codon 121 (CGG Arg to TGG Trp
, R121W) of PAX4 may be associated with the onset of type 2 diabetes in
Japanese. In this study, we determined the frequency of the R121W mutation ...
Cited by 10 - Related articles - BL Direct - All 4 versions

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta …


A Biason-Lauber, B Boehm, M Lang-Muritano, … - Diabetologia, 2005 - Springer
Page 1. Diabetologia (2005) 48: 900–905 DOI 10.1007/s00125-005-1723-5 ARTICLE A.
Biason-Lauber . B. Boehm . M. Lang-Muritano . BR Gauthier . T. Brun . ...
Cited by 30 - Related articles - All 4 versions

Activin A increases Pax4 gene expression in pancreatic β cell lines


Y Ueda - FEBS letters, 2000 - Elsevier
Activin A, a member of the TGFβ superfamily, has many physiological and
developmental functions. In pancreatic β cell cultures, activin promotes cell
differentiation and insulin production. The author has found activin ...
Cited by 24 - Related articles - All 9 versions

The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival …

- rupress.org
T Brun, I Franklin, L St-Onge, A Biason- … - Journal of Cell Biology, 2004 - jcb.rupress.org
The mechanism by which the ß-cell transcription factor Pax4 influences cell
function/mass was studied in rat and human islets of Langerhans. Pax4
transcripts were detected in adult rat islets, and levels were induced by ...
Cited by 57 - Related articles - All 11 versions

No evidence of linkage or diabetes-associated mutations in the transcription factors …


S Dupont, N Vionnet, JC Chevre, S Gallina, C … - Diabetologia, 1999 - Springer
There is increasing interest in the use of genetic ap- proaches to provide a
better understanding of the ... No evidence of linkage or diabetes-associated
mutations ... S. Dupont 1 , N. Vionnet 1 , JC Ch vre 1 , S. Gallina 1 , ...
Cited by 29 - Related articles - BL Direct - All 3 versions

Expression of dominant negative form of PAX4 in human insulinoma


T Miyamoto, T Kakizawa, K Ichikawa, S … - Biochemical and Biophysical Research …, 2001 - Elsevier
The paired-homeodomain transcription factor PAX4 is expressed in the early
pancreas, but is later restricted to β cells and not expressed in mature
islets, suggesting an important role of PAX4 in differentiation and ...
Cited by 14 - Related articles - BL Direct - All 3 versions


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