Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10432536" target="_blank" >RIV/00216208:11130/22:10432536 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/22:10432536
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YFONZy2pyD" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YFONZy2pyD</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00125-021-05581-6" target="_blank" >10.1007/s00125-021-05581-6</a>
Alternative languages
Result language
angličtina
Original language name
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study
Original language description
Mutations in HNF4A, which encodes hepatocyte nuclear factor-4 α, cause maturity-onset diabetes of the young (MODY). HNF4A-MODY is also associated with congenital hyperinsulinism (CHI) and neonatal hypoglycaemia [2]. Our understanding of the transition from hyperinsulinism to diabetes is limited. One hypothesis is higher fetal insulin secretion triggers apoptosis and results in accelerated postnatal beta cell failure. Alternatively, HNF4A deficiency could cause distinct transcriptional defects in early and late life, leading to the contrasting insulin phenotypes. These two hypotheses differ as to whether hypersecretion of insulin in utero precipitates beta cell failure later in life.
Czech name
—
Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/NV18-01-00078" target="_blank" >NV18-01-00078: Pancreatic beta cell-related genes and their role in the pathogenesis and treatment of monogenic diabetes</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Diabetologia
ISSN
0012-186X
e-ISSN
1432-0428
Volume of the periodical
65
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
4
Pages from-to
246-249
UT code for WoS article
000705705300001
EID of the result in the Scopus database
2-s2.0-85116590259