ArticleWorld journal of gastroenterology2016
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
Article in World journal of gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.Pediatric gastroenterology, hepatology & nutrition · 2025Article
- Evolution of surgical treatment for hepatolithiasis.World journal of gastrointestinal surgery · 2024Review
- Review
- Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.Pediatric gastroenterology, hepatology & nutrition · 2020Article
- Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.Frontiers in oncology · 2020Article
- In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.Journal of biomedical physics & engineering · 2019Article
- Functional analysis of the correlation between ABCB11 gene mutation and primary intrahepatic stone.Molecular medicine reports · 2019Article
- Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.Journal of human genetics · 2018Review
- Neonatal Cholestasis: A Pandora's Box.Clinical medicine insights. Pediatrics · 2018Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.
methodsOf 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.
resultsLiving donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677C>T (S226L)/3007G>A (G1003R) and heterozygous 2296G>A (G766R). The mutations were located near and in the transmembranous space.
conclusionAlterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwanese, and European patients.
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