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Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L, Chew SL, Krainer AR. Cartegni L, et al. Nat Rev Genet. 2002 Apr;3(4):285-98. doi: 10.1038/nrg775. Nat Rev Genet. 2002. PMID: 11967553 Review.
ESEfinder: A web resource to identify exonic splicing enhancers.
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. Cartegni L, et al. Nucleic Acids Res. 2003 Jul 1;31(13):3568-71. doi: 10.1093/nar/gkg616. Nucleic Acids Res. 2003. PMID: 12824367 Free PMC article.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: cartegni l. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.
Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Cartegni L, et al. Am J Hum Genet. 2006 Jan;78(1):63-77. doi: 10.1086/498853. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385450 Free PMC article.
Correction of disease-associated exon skipping by synthetic exon-specific activators.
Cartegni L, Krainer AR. Cartegni L, et al. Nat Struct Biol. 2003 Feb;10(2):120-5. doi: 10.1038/nsb887. Nat Struct Biol. 2003. PMID: 12524529
BRCA2 T2722R is a deleterious allele that causes exon skipping.
Fackenthal JD, Cartegni L, Krainer AR, Olopade OI. Fackenthal JD, et al. Among authors: cartegni l. Am J Hum Genet. 2002 Sep;71(3):625-31. doi: 10.1086/342192. Epub 2002 Jul 19. Am J Hum Genet. 2002. PMID: 12145750 Free PMC article.
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
Cartegni L, Krainer AR. Cartegni L, et al. Nat Genet. 2002 Apr;30(4):377-84. doi: 10.1038/ng854. Epub 2002 Mar 4. Nat Genet. 2002. PMID: 11925564
Exonic splicing enhancer motif recognized by human SC35 under splicing conditions.
Liu HX, Chew SL, Cartegni L, Zhang MQ, Krainer AR. Liu HX, et al. Among authors: cartegni l. Mol Cell Biol. 2000 Feb;20(3):1063-71. doi: 10.1128/mcb.20.3.1063-1071.2000. Mol Cell Biol. 2000. PMID: 10629063 Free PMC article.
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX, Cartegni L, Zhang MQ, Krainer AR. Liu HX, et al. Among authors: cartegni l. Nat Genet. 2001 Jan;27(1):55-8. doi: 10.1038/83762. Nat Genet. 2001. PMID: 11137998
Bombesin attenuates pre-mRNA splicing of glucocorticoid receptor by regulating the expression of serine-arginine protein p30c (SRp30c) in prostate cancer cells.
Zhu J, Gong JY, Goodman OB Jr, Cartegni L, Nanus DM, Shen R. Zhu J, et al. Among authors: cartegni l. Biochim Biophys Acta. 2007 Jul;1773(7):1087-94. doi: 10.1016/j.bbamcr.2007.04.016. Epub 2007 May 3. Biochim Biophys Acta. 2007. PMID: 17540466 Free PMC article.
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