ArticleJournal of pediatric genetics2018
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.
Article in Journal of pediatric genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025Review
- Diseases of bile duct in children.World journal of gastroenterology · 2024Review
- Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.Advanced biomedical research · 2023Article
- Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.CNS neuroscience & therapeutics · 2023Article
- Association analysis and functional follow-up identified common variants ofFrontiers in genetics · 2023Article
- Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.Healthcare (Basel, Switzerland) · 2022Review
- Review
- Biliary atresia and congenital disorders of the extrahepatic bile ducts.World journal of gastrointestinal pharmacology and therapeutics · 2022Review
- The Role of Bile Acids in the Human Body and in the Development of Diseases.Molecules (Basel, Switzerland) · 2022Review
- Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis.Diagnostics (Basel, Switzerland) · 2022Review
- A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.PloS one · 2022Article
- Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity.Journal of clinical medicine · 2021Review
- Novel findings from family-based exome sequencing for children with biliary atresia.Scientific reports · 2021Article
- Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.Hepatology (Baltimore, Md.) · 2020Review
- Biliary atresia: pathology, etiology and pathogenesis.Future science OA · 2020Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis of BA usually relies on operative findings together with supporting pathological patterns found in the extrahepatic bile duct. In infancy, overlapping clinical patterns of cholestasis can be found in other diseases including biliary hypoplasia and progressive familial intrahepatic cholestasis. In addition, BA has been reported as a phenotype in some rare genetic syndromes. Unlike BA, other cholangiopathic phenotypes have their own established genetic markers. In this study, we used these markers to look for other cholestasis entities in cases diagnosed with BA. DNA from 20 cases of BA, diagnosed by operative findings and histopathology, were subjected to a study of 19 genes associated with infantile cholestasis syndromes, using whole exome sequencing. Variant selection focused on those with allele frequencies in dbSNP150 of less than 0.01. All selected variants were verified by polymerase chain reaction-direct sequencing. Of the 20 cases studied, 13 rare variants were detected in 9 genes: 4 in
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