Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.4103/sjg.SJG_178_17 Corpus ID: 21814324Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) @article{Narchi2017IntrahepaticCI, title={Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)}, author={H. Narchi and Suhailah Alhefeiti and Fatmah Althabahi and J. Hertecant and A. Knisely and A. Souid}, journal={Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association}, year={2017}, volume={23}, pages={303 - 305} } H. Narchi, Suhailah Alhefeiti, +3 authors A. Souid Published 2017 Medicine Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.  View on Wolters Kluwer doi.org Save to Library Create Alert Cite Launch Research Feed Share This Paper 2 CitationsBackground Citations 2 View All Figures and Topics from this paper figure 1 Intrahepatic Cholestasis Homozygote Whole Exome Sequencing 2 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Disease mutation study identifies essential residues for phosphatidylserine flippase ATP11A Kuanxiang Sun, W. Tian, Wenjing Liu, Yeming Yang, Xianjun Zhu Chemistry, Biology 2020 View 2 excerpts, cites background Save Alert Research Feed Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A Kuanxiang Sun, W. Tian, X. Li, Wenjing Liu, Y. Yang, Xianjun Zhu Chemistry, Medicine BioMed research international 2020 PDF View 2 excerpts, cites background Save Alert Research Feed References SHOWING 1-10 OF 10 REFERENCES A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. A. Sharma, U. Poddar, Shikha Agnihotry, R. Aggarwal Medicine Indian pediatrics 2016 3 PDF Save Alert Research Feed Characterization of ATP8B1 Gene Mutations and a Hot-linked Mutation Found in Chinese Children With Progressive Intrahepatic Cholestasis and Low GGT L. Liu, X. Wang, Z. Wang, Q. Zhu, J. Wang Medicine Journal of pediatric gastroenterology and nutrition 2010 16 Save Alert Research Feed Progressive familial intrahepatic cholestasis. Genetic basis and treatment. E. Jacquemin Medicine Clinics in liver disease 2000 88 Save Alert Research Feed Progressive familial intrahepatic cholestasis. G. M. Cavestro, L. Frulloni, +5 authors F. di Mario Medicine Acta bio-medica : Atenei Parmensis 2002 227 PDF Save Alert Research Feed Characterization of mutations in ATP8B1 associated with hereditary cholestasis L. Klomp, J. C. Vargas, +19 authors L. Bull Biology, Medicine Hepatology 2004 231 View 4 excerpts, references background Save Alert Research Feed FIC1 disease: a spectrum of intrahepatic cholestatic disorders. S. V. van Mil, L. Klomp, L. Bull, R. Houwen Biology, Medicine Seminars in liver disease 2001 110 View 1 excerpt, references background Save Alert Research Feed Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. N. A. V. van Ooteghem, L. Klomp, G. P. Van Berge-Henegouwen, R. Houwen Medicine Journal of hepatology 2002 110 View 1 excerpt, references background Save Alert Research Feed Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Wendy L van der Woerd, S. V. van Mil, J. Stapelbroek, L. Klomp, S. V. D. van de Graaf, R. Houwen Medicine Best practice & research. Clinical gastroenterology 2010 83 View 1 excerpt, references background Save Alert Research Feed Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport Coen C. Paulusma, A. Groen, +12 authors R. Oude Elferink Biology, Medicine Hepatology 2006 202 View 2 excerpts, references background Save Alert Research Feed Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders. C. Baussan, D. Cresteil, +5 authors E. Jacquemin Medicine Acta gastro-enterologica Belgica 2004 13 Save Alert Research Feed Related Papers Abstract Figures and Topics 2 Citations 10 References Related Papers Stay Connected With Semantic Scholar Sign Up About Semantic Scholar Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. Learn More → Resources DatasetsSupp.aiAPIOpen Corpus Organization About UsResearchPublishing PartnersData Partners   FAQContact Proudly built by AI2 with the help of our Collaborators Terms of Service•Privacy Policy The Allen Institute for AI By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License ACCEPT & CONTINUE