Listening to silence and understanding nonsense: exonic mutations that affect splicing
L Cartegni, SL Chew, AR Krainer - Nature reviews genetics, 2002 - nature.com
Point mutations in the coding regions of genes are commonly assumed to exert their effects
by altering single amino acids in the encoded proteins. However, there is increasing …
by altering single amino acids in the encoded proteins. However, there is increasing …
The human splicing code reveals new insights into the genetic determinants of disease
INTRODUCTION Advancing whole-genome precision medicine requires understanding
how gene expression is altered by genetic variants, especially those that are far outside of …
how gene expression is altered by genetic variants, especially those that are far outside of …
Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro
B Ruskin, AR Krainer, T Maniatis, MR Green - Cell, 1984 - cell.com
To study the mechanisms of RNA splicing we have analyzed the products generated by in
vitro processing of a truncated 32P-labeled human 8-globin RNA precursor that contains the …
vitro processing of a truncated 32P-labeled human 8-globin RNA precursor that contains the …
[HTML][HTML] CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
CTCF and the associated cohesin complex play a central role in insulator function and
higher-order chromatin organization of mammalian genomes. Recent studies identified a …
higher-order chromatin organization of mammalian genomes. Recent studies identified a …
Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2
A Mayeda, AR Krainer - Cell, 1992 - cell.com
When messenger RNA precursors (pre-mRNAs) containing alternative 5’splice sites are
spliced in vitro, the relative concentrations of the heterogeneous ribonucieoprotein(hnRNP) Al …
spliced in vitro, the relative concentrations of the heterogeneous ribonucieoprotein(hnRNP) Al …
Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
JF Cáceres, S Stamm, DM Helfman, AR Krainer - Science, 1994 - science.org
The opposing effects of SF2/ASF and heterogeneous nuclear ribonucleoprotein (hnRNP)
A1 influence alternative splicing in vitro. SF2/ASF or hnRNP A1 complementary DNAs were …
A1 influence alternative splicing in vitro. SF2/ASF or hnRNP A1 complementary DNAs were …
RNA therapeutics: beyond RNA interference and antisense oligonucleotides
R Kole, AR Krainer, S Altman - Nature reviews Drug discovery, 2012 - nature.com
Here, we discuss three RNA-based therapeutic technologies exploiting various oligonucleotides
that bind to RNA by base pairing in a sequence-specific manner yet have different …
that bind to RNA by base pairing in a sequence-specific manner yet have different …
The gene encoding the splicing factor SF2/ASF is a proto-oncogene
…, SW Lowe, R Sinha, D Mu, AR Krainer - Nature structural & …, 2007 - nature.com
Alternative splicing modulates the expression of many oncogene and tumor-suppressor
isoforms. We have tested whether some alternative splicing factors are involved in cancer. We …
isoforms. We have tested whether some alternative splicing factors are involved in cancer. We …
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni, AR Krainer - Nature genetics, 2002 - nature.com
Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a
frequent mechanism by which point mutations cause genetic diseases. Spinal muscular …
frequent mechanism by which point mutations cause genetic diseases. Spinal muscular …
ESEfinder: a web resource to identify exonic splicing enhancers
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA
splicing. The effect of a point mutation within a coding sequence is traditionally …
splicing. The effect of a point mutation within a coding sequence is traditionally …