Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Alternative splicing of the neurofibromatosis type I pre-mRNA.

Bioscience reports - 1 Apr 2012

Barron Victoria A, Lou Hua

Abstract excerpt

NF1 (neurofibromatosis type I) is a common genetic disease that affects one in 3500 individuals. The disease is completely penetrant but shows variable phenotypic expression in patients. NF1 is a large gene, and its pre-mRNA undergoes alternative splicing. The NF1 protein, neurofibromin, is involved in diverse signalling cascades. One of the best characterized functions of NF1 is its function as a Ras-GAP...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Genes, Neurofibromatosis 1
Share to Neuroblastoma Research and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Neurofibromatosis 1

Share to Neurofibromatosis and Schwannoma Cases

Share to Neurofibromin 1

Share to Phenotype

Share to RNA Precursors

Source

Open in PubMed Open full text

Identifiers

PMID: 22115364
DOI: 10.1042/BSR20110060
PMCID: PMC3726530

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alternative splicing of the neurofibromatosis type I pre-mRNA.PMID 22115364Read ↗

Regulation of Neuron-Specific Alternative Splicing of Neurofibromatosis Type 1 Pre-mRNASemantic proximity Read ↗

Molecular genetics of neurofibromatosis type 1 (NF1).Semantic proximity Read ↗

Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.Semantic proximity Read ↗

RNA processing and clinical variability in neurofibromatosis type I (NF1).Semantic proximity Read ↗

Exon skipping mutations in neurofibromatosis.Semantic proximity Read ↗

[Genetics of type 1 neurofibromatosis].Semantic proximity Read ↗

The neurofibromatosis type 1 gene.Semantic proximity Read ↗

RAS and beyond: the many faces of the neurofibromatosis type 1 proteinSemantic proximity Read ↗

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.Semantic proximity Read ↗

Role of long non-coding RNAs in neurofibromatosis and Schwannomatosis: pathogenesis and therapeutic potentialSemantic proximity Read ↗

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.