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Kaiping Gao et al.
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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5′ splice sites
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Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs)
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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
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
PLP/DM20 ratio is regulated by hnRNPH and F and a novel G-rich enhancer in oligodendrocytes
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SRp54 (SFRS11), a regulator for tau exon 10 alternative splicing identified by an expression cloning strategy
Jane Y. Wu et al.
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An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
A Disset et al.
HUMAN MOLECULAR GENETICS (2006)
Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs
J Kralovicová et al.
JOURNAL OF IMMUNOLOGY (2006)
A combinatorial code for splicing silencing: UAGG and GGGG motifs
K Han et al.
PLOS BIOLOGY (2005)
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse
LM Kimbell et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
SC35 and heterogeneous nuclear ribonucleoprotein A/B proteins bind to a juxtaposed exonic splicing enhancer/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing
AM Zahler et al.
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The interaction between GATA proteins and activator protein-1 promotes the transcription of IL-13 in mast cells
A Masuda et al.
JOURNAL OF IMMUNOLOGY (2004)
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
JM Johnson et al.
SCIENCE (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
Sleuthing molecular targets for neurological diseases at the neuromuscular junction
AG Engel et al.
NATURE REVIEWS NEUROSCIENCE (2003)
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
K Ohno et al.
HUMAN MOLECULAR GENETICS (2003)
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation
XM Shen et al.
NEUROLOGY (2002)
BRCA2 T2722R is a deleterious allele that causes exon skipping
JD Fackenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Alternative splicing:: multiple control mechanisms and involvement in human disease
JF Cáceres et al.
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A new type of mutation causes a splicing defect in ATM
F Pagani et al.
NATURE GENETICS (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D
M Caputi et al.
EMBO JOURNAL (2002)
Both Ran and importins have the ability to function as nuclear mRNA export factors
R Yi et al.
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An Exon splice enhancer mutation causes autosomal dominant GH deficiency
CT Moseley et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
SR Lim et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H′/F/2H9 family
M Caputi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
A second exon splicing silencer within human immunodeficiency virus type 1 tat exon 2 represses splicing of Tat mRNA and binds protein hnRNP H
S Jacquenet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
End-plate γ- and ε-subunit mRNA levels in AChR deficiency syndrome due to ε-subunit null mutations
R Croxen et al.
BRAIN (2001)
Alternative pre-mRNA splicing:: the logic of combinatorial control
CWJ Smith et al.
TRENDS IN BIOCHEMICAL SCIENCES (2000)
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
E Ars et al.
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