Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. (Q52577158)

3 May 2018

title

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. (English)

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3 May 2018

author

Xavier Roca

2

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3 May 2018

Adrian Robert Krainer

7

object named as

Krainer AR

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3 May 2018

Wimmer K

1

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3 May 2018

Beiglböck H

3

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3 May 2018

Callens T

4

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3 May 2018

Etzler J

5

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3 May 2018

Rao AR

6

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3 May 2018

Fonatsch C

8

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3 May 2018

Messiaen L

9

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3 May 2018

publication date

1 June 2007

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3 May 2018

published in

Human Mutation

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3 May 2018

volume

28

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3 May 2018

issue

6

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3 May 2018

page(s)

599-612

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3 May 2018

Short donor site sequences inserted within the intron of beta-globin pre-mRNA serve for splicing in vitro

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Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.

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Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras

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A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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7 January 2021

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

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7 January 2021

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

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Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

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7 January 2021

Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization

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7 January 2021

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

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7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

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7 January 2021

An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing

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7 January 2021

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

NF1 gene analysis based on DHPLC

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Genomic organization and evolution of the NF1 microdeletion region.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

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7 January 2021

hnRNP proteins and the biogenesis of mRNA

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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7 January 2021

Sorting out the complexity of SR protein functions

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

The role of U2AF35 and U2AF65 in enhancer-dependent splicing

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7 January 2021

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

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7 January 2021

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

NF1 mutations and clinical spectrum in patients with spinal neurofibromas

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Branch site haplotypes that control alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Hierarchy for 5′ splice site preference determined in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Instability and decay of the primary structure of DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Independent NF1 mutations in two large families with spinal neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

High-affinity hnRNP A1 binding sites and duplex-forming inverted repeats have similar effects on 5' splice site selection in support of a common looping out and repression mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Determinants of the inherent strength of human 5' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

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.20493

7 January 2021

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Predicting thermodynamic properties of RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

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.20493

7 January 2021

5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Preimplantation genetic diagnosis for neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Multiple splicing defects in an intronic false exon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Polypyrimidine tract binding protein antagonizes exon definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

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.20493

7 January 2021

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

7 January 2021

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20493

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.20493

7 January 2021

Identifiers

DOI

10.1002/HUMU.20493

1 reference

3 May 2018

PubMed ID

17311297

1 reference

3 May 2018