ReviewJournal of human genetics2018
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Review in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.Orphanet journal of rare diseases · 2024Article
- Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.JHEP reports : innovation in hepatology · 2023Article
- Gene Therapy for Acquired and Genetic Cholestasis.Biomedicines · 2022Review
- Modulation of Bile Acid Metabolism to Improve Plasma Lipid and Lipoprotein Profiles.Journal of clinical medicine · 2021Review
- Bsep expression in hilar cholangiocarcinoma of rat model.Scientific reports · 2021Article
- The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.International journal of molecular sciences · 2021Review
- Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.Pediatric research · 2021Article
- Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis.Scientific reports · 2019Article
- Expanding etiology of progressive familial intrahepatic cholestasis.World journal of hepatology · 2019Article
- Hypothalamus-Pituitary-Adrenal Dysfunction in Cholestatic Liver Disease.Frontiers in endocrinology · 2018Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The bile salt export pump (BSEP) plays an important role in biliary secretion. Mutations in ABCB11, the gene encoding BSEP, induce progressive familial intrahepatic cholestasis type 2 (PFIC2), which presents with severe jaundice and liver dysfunction. A less severe phenotype, called benign recurrent intrahepatic cholestasis type 2, is also known. About 200 missense mutations in ABCB11 have been reported. However, the phenotype-genotype correlation has not been clarified. Furthermore, the frequencies of ABCB11 mutations differ between Asian and European populations. We report a patient with PFIC2 carrying a homozygous ABCB11 mutation c.386G>A (p.C129Y) that is most frequently reported in Japan. The pathogenicity of BSEP
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.