Literature DB >> 25613755

Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.

Victoria C Ziesenitz1, Tsvetomir Loukanov2, Christiane Gläser3, Matthias Gorenflo1.   

Abstract

We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.

Entities:  

Keywords:  Alagille syndrome; JAG1; Notch signalling; absent pulmonary valve; tetralogy of Fallot

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Substances：

Year:  2015        PMID： 25613755     DOI： 10.1017/S1047951114002753

Source DB:  PubMed          Journal:  Cardiol Young        ISSN： 1047-9511            Impact factor:   1.093


  3 in total

1.  A non-canonical JAGGED1 signal to JAK2 mediates osteoblast commitment in cranial neural crest cells.

Authors:  Archana Kamalakar; Melissa S Oh; Yvonne C Stephenson; Samir A Ballestas-Naissir; Michael E Davis; Nick J Willett; Hicham M Drissi; Steven L Goudy
Journal:  Cell Signal       Date:  2018-12-08       Impact factor: 4.315

2.  Intrahepatic cholangiocyte regeneration from an Fgf-dependent extrahepatic progenitor niche in a zebrafish model of Alagille Syndrome.

Authors:  Chengjian Zhao; Joseph J Lancman; Yi Yang; Keith P Gates; Dan Cao; Lindsey Barske; Jonathan Matalonga; Xiangyu Pan; Jiaye He; Alyssa Graves; Jan Huisken; Chong Chen; P Duc Si Dong
Journal:  Hepatology       Date:  2021-12-15       Impact factor: 17.425

3.  Genetic Basis of Human Congenital Heart Disease.

Authors:  Shannon N Nees; Wendy K Chung
Journal:  Cold Spring Harb Perspect Biol       Date:  2020-09-01       Impact factor: 9.708
  3 in total

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