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Items: 17

1.

Heterogeneous nuclear ribonucleoprotein particle A/B proteins and the control of alternative splicing of the mammalian heterogeneous nuclear ribonucleoprotein particle A1 pre-mRNA.

Chabot B, LeBel C, Hutchison S, Nasim FH, Simard MJ.

Prog Mol Subcell Biol. 2003;31:59-88. Review. No abstract available.

PMID:
12494763
2.

BRCA2 T2722R is a deleterious allele that causes exon skipping.

Fackenthal JD, Cartegni L, Krainer AR, Olopade OI.

Am J Hum Genet. 2002 Sep;71(3):625-31. Epub 2002 Jul 19. Erratum in: Am J Hum Genet. 2003 Dec;73(6):1477.

4.

The IARC TP53 database: new online mutation analysis and recommendations to users.

Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P.

Hum Mutat. 2002 Jun;19(6):607-14.

PMID:
12007217
5.

Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Cartegni L, Chew SL, Krainer AR.

Nat Rev Genet. 2002 Apr;3(4):285-98. Review.

PMID:
11967553
6.
7.

An exon splice enhancer mutation causes autosomal dominant GH deficiency.

Moseley CT, Mullis PE, Prince MA, Phillips JA 3rd.

J Clin Endocrinol Metab. 2002 Feb;87(2):847-52.

PMID:
11836331
9.

Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein.

Martin AC, Facchiano AM, Cuff AL, Hernandez-Boussard T, Olivier M, Hainaut P, Thornton JM.

Hum Mutat. 2002 Feb;19(2):149-64.

PMID:
11793474
10.

Pre-mRNA splicing in the new millennium.

Hastings ML, Krainer AR.

Curr Opin Cell Biol. 2001 Jun;13(3):302-9. Review.

PMID:
11343900
11.

Sorting out the complexity of SR protein functions.

Graveley BR.

RNA. 2000 Sep;6(9):1197-211. Review. No abstract available.

12.

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases.

Blencowe BJ.

Trends Biochem Sci. 2000 Mar;25(3):106-10. Review. Erratum in: Trends Biochem Sci 2000 May;25(5):228.

PMID:
10694877
13.

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions.

Liu HX, Chew SL, Cartegni L, Zhang MQ, Krainer AR.

Mol Cell Biol. 2000 Feb;20(3):1063-71.

14.

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X.

Hum Mol Genet. 2000 Jan 22;9(2):237-47. Erratum in: Hum Mol Genet 2000 Mar 1;9(4):659.

PMID:
10607834
15.

SR protein kinases: the splice of life.

Stojdl DF, Bell JC.

Biochem Cell Biol. 1999;77(4):293-8. Review.

PMID:
10546892
16.

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