Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation-Reference-Cited by-同舟云学术

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Published:2007-08-19 Issue:9 Volume:39 Page:1127-1133
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Tarpey Patrick S,Lucy Raymond F,Nguyen Lam S,Rodriguez Jayson,Hackett Anna,Vandeleur Lucianne,Smith Raffaella,Shoubridge Cheryl,Edkins Sarah,Stevens Claire,O'Meara Sarah,Tofts Calli,Barthorpe Syd,Buck Gemma,Cole Jennifer,Halliday Kelly,Hills Katy,Jones David,Mironenko Tatiana,Perry Janet,Varian Jennifer,West Sofie,Widaa Sara,Teague John,Dicks Ed,Butler Adam,Menzies Andrew,Richardson David,Jenkinson Andrew,Shepherd Rebecca,Raine Keiran,Moon Jenny,Luo Yin,Parnau Josep,Bhat Shambhu S,Gardner Alison,Corbett Mark,Brooks Doug,Thomas Paul,Parkinson-Lawrence Emma,Porteous Mary E,Warner John P,Sanderson Tracy,Pearson Pauline,Simensen Richard J,Skinner Cindy,Hoganson George,Superneau Duane,Wooster Richard,Bobrow Martin,Turner Gillian,Stevenson Roger E,Schwartz Charles E,Andrew Futreal P,Srivastava Anand K,Stratton Michael R,Gécz Jozef

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2100.pdf

Reference30 articles.

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2. Conti, E. & Izaurralde, E. Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species. Curr. Opin. Cell Biol. 17, 316–325 (2005).

3. Medghalchi, S.M. et al. Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum. Mol. Genet. 10, 99–105 (2001).

4. Weischenfeldt, J., Lykke-Andersen, J. & Porse, B. Messenger RNA surveillance: neutralising natural nonsense. Curr. Biol. 15, R559–R562 (2005).

5. Lujan, J.E., Carlin, M.E. & Lubs, H.A. A form of X-linked mental retardation with Marfanoid habitus. Am. J. Med. Genet. 17, 311–322 (1984).

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