(Q80238946)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16964593%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16964593%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

1

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30 December 2019

3

Noam Shomron

1 reference

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30 December 2019

author name string

Matthew M Hims

2

1 reference

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30 December 2019

Christopher B Burge

4

1 reference

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30 December 2019

Susan A Slaugenhaupt

5

1 reference

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30 December 2019

Robin Reed

6

1 reference

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30 December 2019

publication date

1 January 2007

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30 December 2019

1 reference

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30 December 2019

volume

28

1 reference

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30 December 2019

issue

1

1 reference

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30 December 2019

page(s)

41-53

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Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Protein components specifically associated with prespliceosome and spliceosome complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

RNA splicing at human immunodeficiency virus type 1 3' splice site A2 is regulated by binding of hnRNP A/B proteins to an exonic splicing silencer element

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Activation of c-src neuron-specific splicing by an unusual RNA element in vivo and in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Ser/Arg-rich protein-mediated communication between U1 and U2 small nuclear ribonucleoprotein particles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Comparative analysis detects dependencies among the 5' splice-site positions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Correction of disease-associated exon skipping by synthetic exon-specific activators

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

The U1 small nuclear ribonucleoprotein/5' splice site interaction affects U2AF65 binding to the downstream 3' splice site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

An element in the 5' common exon of the NCAM alternative splicing unit interacts with SR proteins and modulates 5' splice site selection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Functional coupling of RNAP II transcription to spliceosome assembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Response to Buratti et al.: Can a ‘patch’ in a skipped exon make the pre-mRNA splicing machine run better?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Alternative splicing in disease and therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Modulation of 5' splice site selection using tailed oligonucleotides carrying splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Coupled in vitro synthesis and splicing of RNA polymerase II transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

The role of U2AF35 and U2AF65 in enhancer-dependent splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A combinatorial code for splicing silencing: UAGG and GGGG motifs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Purification and characterization of the human elongator complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Linking splicing to Pol II transcription stabilizes pre-mRNAs and influences splicing patterns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

HOLLYWOOD: a comparative relational database of alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Decrease in hnRNP A/B expression during erythropoiesis mediates a pre-mRNA splicing switch

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A novel intronic cis element, ISE/ISS-3, regulates rat fibroblast growth factor receptor 2 splicing through activation of an upstream exon and repression of a downstream exon containing a noncanonical branch point sequence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Serine/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Cell type-specific expression of hnRNP proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Molecular characterization of the hnRNP A2/B1 proteins: tissue-specific expression and novel isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Protein-protein interactions and 5'-splice-site recognition in mammalian mRNA precursors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

RNA polymerase II elongation factors of Saccharomyces cerevisiae: a targeted proteomics approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A general role for splicing enhancers in exon definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A multiprotein complex that interacts with RNA polymerase II elongator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A computational analysis of sequence features involved in recognition of short introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

In vitro coupled transcription splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Exchange of RNA polymerase II initiation and elongation factors during gene expression in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3'-splice Site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Co-transcriptional commitment to alternative splice site selection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Exonic splicing enhancers contribute to the use of both 3' and 5' splice site usage of rat beta-tropomyosin pre-mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Splicing efficiency of human immunodeficiency virus type 1 tat RNA is determined by both a suboptimal 3' splice site and a 10 nucleotide exon splicing silencer element located within tat exon 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Reprogramming Alternative Pre-messenger RNA Splicing through the Use of Protein-binding Antisense Oligonucleotides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Exon Identity Established through Differential Antagonism between Exonic Splicing Silencer-Bound hnRNP A1 and Enhancer-Bound SR Proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20401

7 January 2021

Identifiers

DOI

10.1002/HUMU.20401

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16964593%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference