Alagille Syndrome Mimicking Biliary Atresia in Early Infancy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10315602" target="_blank" >RIV/00216208:11130/15:10315602 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10315602 RIV/00023001:_____/15:00059573
Result on the web
<a href="http://dx.doi.org/10.1371/journal.pone.0143939" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0143939</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1371/journal.pone.0143939" target="_blank" >10.1371/journal.pone.0143939</a>
Alternative languages
Result language
angličtina
Original language name
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy
Original language description
Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Fivebiliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PLoS ONE
ISSN
1932-6203
e-ISSN
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Volume of the periodical
10
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
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UT code for WoS article
000365889800091
EID of the result in the Scopus database
2-s2.0-84957105474