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12 Article(s) on File
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p53Psi is a transcriptionally inactive p53 isoform able to reprogram cells toward a metastatic-like state
Senturk S,
Yao Z,
Camiolo M,
Stiles B,
Rathod T,
Walsh AM,
Nemajerova A,
Lazzara MJ,
Altorki NK,
Krainer A,
Moll UM,
Lowe SW,
Cartegni L,
Sordella R

Proceedings of the National Academy of Sciences of the United States of America
  111 (32): E3287-E3296; Aug 12 2014   Nlm
[Abstract]
[DOI] [Full Text]

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,
Sorensen S,
Cartegni L,
Corydon TJ,
Doktor TK,
Schroeder LD,
Reinert LS,
Elpeleg O,
Krainer AR,
Gregersen N,
Kjems J,
Andresen BS

American Journal of Human Genetics
  80 (3): 416-432; Mar 2007  
[Abstract]
[PDF]

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

Am J Hum Genet
  78 (1): 63-77; Jan 2006  
[Abstract]
[DOI] [Full Text] [PDF]

Severe subacute G(M2) gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mmRNA
Wicklow BA,
Ivanovich JL,
Plews MM,
Salo TJ,
Noetzel MJ,
Lueder GT,
Cartegni L,
Kaback MM,
Sandhoff K,
Steiner RD,
Triggs-Raine BL

American Journal of Medical Genetics Part A
  127A (2): 158-166; Jun 2004  
[Abstract]
[Full Text]

ESEfinder: a web resource to identify exonic splicing enhancers
Cartegni L,
Wang JH,
Zhu ZW,
Zhang MQ,
Krainer AR

Nucleic Acids Research
  31 (13): 3568-3571; Jul 2003  
[Abstract]
[Full Text]

Correction of disease-associated exon skipping by synthetic exon-specific activators
Cartegni L,
Krainer AR

Nature Structural Biology
  10 (2): 120-125; Feb 2003  
[Abstract]
[Full Text]

BRCA2 T2722R is a deleterious allele that causes exon skipping
Fackenthal JD,
Cartegni L,
Krainer AR,
Olopade OI

American Journal of Human Genetics
  71 (3): 625-631; Sep 2002  
[Full Text]

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
Cartegni L,
Krainer AR

Nature Genetics
  30 (4): 377-384; Apr 2002  
[Full Text]

Listening to silence and understanding nonsense: Exonic mutations that affect splicing
Cartegni L,
Chew SL,
Krainer AR

Nature Reviews Genetics
  3 (4): 285-298; Apr 2002  
[Full Text]

Two proteins essential for apolipoprotein B mRNA editing are expressed from a single gene through alternative splicing
Dance GS,
Sowden MP,
Cartegni L,
Cooper E,
Krainer AR,
Smith HC

Journal of Biological Chemistry
  277 (15): 12703-12709; Apr 2002  
[Full Text]

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
Liu HX,
Cartegni L,
Zhang MQ,
Krainer AR

Nature Genetics
  27 (1): 55-58; Jan 2001  
[Abstract]
[DOI] [Full Text]

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions
Liu HX,
Chew SL,
Cartegni L,
Zhang MQ,
Krainer AR

Molecular and Cellular Biology
  20 (3): 1063-1071; Feb 2000  
[Abstract]
[Full Text]


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