(Q59123119)

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NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

scientific article published on 01 November 2006

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29 December 2019

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing (English)

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29 December 2019

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29 December 2019

7

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29 December 2019

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29 December 2019

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Conxi Lázaro

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29 December 2019

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Eva Pros

1

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29 December 2019

Eva López

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29 December 2019

Anna Ravella

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29 December 2019

Helena Kruyer

6

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29 December 2019

M Lluïsa Gili

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29 December 2019

publication date

1 November 2006

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29 December 2019

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29 December 2019

27

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29 December 2019

11

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29 December 2019

1104-1114

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29 December 2019

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

1 reference

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Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

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Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

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

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

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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

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7 January 2021

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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7 January 2021

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A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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7 January 2021

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Treatment of spinal muscular atrophy by sodium butyrate

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The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

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Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

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7 January 2021

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NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Standardizing mutation nomenclature: why bother?

1 reference

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7 January 2021

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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

1 reference

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7 January 2021

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Pre-mRNA splicing and human disease

1 reference

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7 January 2021

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Alternative splicing in disease and therapy

1 reference

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7 January 2021

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An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

1 reference

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7 January 2021

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A perfect message: RNA surveillance and nonsense-mediated decay

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7 January 2021

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An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

1 reference

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7 January 2021

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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

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7 January 2021

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Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

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7 January 2021

based on heuristic

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Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Quality control of mRNA function

1 reference

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7 January 2021

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NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20396

7 January 2021

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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.20396

7 January 2021

based on heuristic

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Splicing regulation as a potential genetic modifier

1 reference

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7 January 2021

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The splicing machinery is a genetic modifier of disease severity

1 reference

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7 January 2021

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Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene

1 reference

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7 January 2021

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Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

1 reference

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7 January 2021

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Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

1 reference

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7 January 2021

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Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

1 reference

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7 January 2021

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

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Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

1 reference

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7 January 2021

based on heuristic

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RT-PCR splicing analysis of the NF1 open reading frame

1 reference

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7 January 2021

based on heuristic

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The association of nonsense codons with exon skipping

1 reference

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7 January 2021

based on heuristic

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Complex splicing pattern generates great diversity in human NF1 transcripts

1 reference

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7 January 2021

based on heuristic

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Quantification of NF1 transcripts reveals novel highly expressed splice variants.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

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Identifiers

10.1002/HUMU.20396

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937374%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937374%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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