Lack of PAX4 mutations in 53 Czech MODYX families

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6706" target="_blank" >RIV/00064203:_____/10:6706 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6706

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Lack of PAX4 mutations in 53 Czech MODYX families

Original language description

Aims. While the most common causes for maturity-onset diabetes of the young (MODY) are heterozygous mutations in the genes HNF1A, GCK, HNF4A, HNF1B, NEUROD1, and INS, also other genes have been confirmed to give rise to MODY in isolated cases. One of such genes is the PAX4, encoding transcription factor essential for development of insulin-producing cells. Its mutation has been reported to cause MODY in two Thai probands, and it was investigated in small MODY groups of European ancestry with negative results. Results. No disease-causing mutations in the PAX4 gene were detected. The probands carried several polymorphisms (e.g. p.His321Pro in 60% of probands and IVS3+79C>T in 90% probands). Conclusions. Our carefully selected group of MODYX patients repres

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

<a href="/en/project/7F09015" target="_blank" >7F09015: Infections in the pathogenesis of type 1 diabetes: The MIDIA study</a><br>

Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Diabetic Medicine

ISSN

0742-3071

e-ISSN

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Volume of the periodical

27

Issue of the periodical within the volume

12

Country of publishing house

GB - UNITED KINGDOM

Number of pages

2

Pages from-to

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UT code for WoS article

000284070400018

EID of the result in the Scopus database

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