ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285454" target="_blank" >RIV/00216208:11110/14:10285454 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10285454 RIV/00216208:11120/14:43908529 RIV/00064173:_____/14:#0000428 RIV/00064203:_____/14:10285454 a 2 dalších

Výsledek na webu

<a href="http://dx.doi.org/10.3748/wjg.v20.i19.5867" target="_blank" >http://dx.doi.org/10.3748/wjg.v20.i19.5867</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3748/wjg.v20.i19.5867" target="_blank" >10.3748/wjg.v20.i19.5867</a>

Jazyk výsledku

angličtina

Název v původním jazyce

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Popis výsledku v původním jazyce

AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysis ofABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c. 1331T > C of ABCB11 and genotyping for variation c. 55G > C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families(5 probands, 15 additional family members). The probands came to medical attention for contraceptive-associated intrahepatic cholestasis. RESULTS: A possibly pathogenic variant of ABCB4 was found only in one of the 35 pediatric subjects w

Název v anglickém jazyce

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Popis výsledku anglicky

AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysis ofABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c. 1331T > C of ABCB11 and genotyping for variation c. 55G > C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families(5 probands, 15 additional family members). The probands came to medical attention for contraceptive-associated intrahepatic cholestasis. RESULTS: A possibly pathogenic variant of ABCB4 was found only in one of the 35 pediatric subjects w

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

World Journal of Gastroenterology

ISSN

1007-9327

e-ISSN

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Svazek periodika

20

Číslo periodika v rámci svazku

19

Stát vydavatele periodika

CN - Čínská lidová republika

Počet stran výsledku

8

Strana od-do

5867-5874

Kód UT WoS článku

000336048200032

EID výsledku v databázi Scopus

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