Expression of mutant JAGGED1 alleles in patients with Alagille syndrome-Reference-Cited by-同舟云学术

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Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

Published:2005-03-17 Issue:6 Volume:116 Page:445-453
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Boyer Julie,Crosnier C�cile,Driancourt Catherine,Raynaud Nicole,Gonzales Marie,Hadchouel Michelle,Meunier-Rotival Mich�le

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-1262-7.pdf

Reference36 articles.

1. Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia with characteristic facies, vertebral malformations, retarded physical, mental and sexual development and cardiac murmur. J Pediatr 86:63?71

2. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP (1987) Syndromic paucity of interlobular bile ducts. J Pediatr 110:195?200

3. Bash J, Zong WX, Banga S, Rivera A, Ballard DW, Ron Y, Gelinas C (1999) Rel/NF-kappaB can trigger the Notch signaling pathway by inducing the expression of Jagged1, a ligand for Notch receptors. EMBO J 18:2803?2811

4. Bateman JF, Freddi S, Nattrass G, Savarirayan R (2003) Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia. Hum Mol Genet 12:217?225

5. Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M, Meunier-Rotival M (1999) Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 116:1141?1148

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