JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome-Reference-Cited by-同舟云学术

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JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

Published:2023-07-17 Issue:3 Volume:4 Page:e338
ISSN:2691-171X
Container-title:JPGN Reports
language:en
Short-container-title:

Author:

Almes Marion¹²,Gardin Antoine¹²,Davit-Spraul Anne²³,Bouligand Jérôme⁴,Habes Dalila¹²,Jacquemin Emmanuel¹²

Affiliation:

1. Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER

2. Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France

3. Biochemistry Unit

4. Molecular Genetics and Pharmacogenetics, Bicêtre Hospital, Assistance Publique – Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France

Publisher

Wiley

Subject

General Earth and Planetary Sciences,General Environmental Science

Reference7 articles.

1. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.;Alagille;J Pediatr,1987

2. THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.;Tsai;Cell Mol Gastroenterol Hepatol,2016

3. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.;Guegan;Clin Genet,2012

4. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.;Ohashi;Acta Paediatr,2017

5. Thrombospondin 1 and 2 along with PEDF inhibit angiogenesis and promote lymphangiogenesis in intrahepatic cholangiocarcinoma.;Carpino;J Hepatol,2021

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