Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome-Reference-Cited by-同舟云学术

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Published:2012-02-26 Issue:4 Volume:44 Page:435-439
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Albers Cornelis A,Paul Dirk S,Schulze Harald,Freson Kathleen,Stephens Jonathan C,Smethurst Peter A,Jolley Jennifer D,Cvejic Ana,Kostadima Myrto,Bertone Paul,Breuning Martijn H,Debili Najet,Deloukas Panos,Favier Rémi,Fiedler Janine,Hobbs Catherine M,Huang Ni,Hurles Matthew E,Kiddle Graham,Krapels Ingrid,Nurden Paquita,Ruivenkamp Claudia A L,Sambrook Jennifer G,Smith Kenneth,Stemple Derek L,Strauss Gabriele,Thys Chantal,van Geet Chris,Newbury-Ecob Ruth,Ouwehand Willem H,Ghevaert Cedric

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.1083.pdf

Reference36 articles.

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2. Le Hir, H., Gatfield, D., Izaurralde, E. & Moore, M.J. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J. 20, 4987–4997 (2001).

3. Lykke-Andersen, J., Shu, M.-D. & Steitz, J.A. Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 293, 1836–1839 (2001).

4. Palacios, I.M., Gatfield, D., St Johnston, D. & Izaurralde, E. An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay. Nature 427, 753–757 (2004).

5. Wiegand, H.L., Lu, S. & Cullen, B.R. Exon junction complexes mediate the enhancing effect of splicing on mRNA expression. Proc. Natl. Acad. Sci. USA 100, 11327–11332 (2003).

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