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

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.

Biochimica et biophysica acta - 15 Nov 2000

Mayer K, Ballhausen W, Leistner W, Rott H

Abstract excerpt

Disease causing aberrations in both tuberous sclerosis predisposing genes, TSC1 and TSC2, comprise nearly every type of alteration with a predominance of small truncating mutations distributed over both genes. We performed an RNA based screening of the entire coding regions of both TSC genes applying the protein truncation test (PTT) and identified a high proportion of unusual splicing abnormalities affecting the...

Read the complete abstract on PubMed

Topics

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

Share to Consensus Sequence
Share to Molecular Structure

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Biosynthesis

Share to Restriction Mapping

Share to RNA Splice Sites

Share to RNA Splicing

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Source

Identifiers

PMID: 11068191
DOI: 10.1016/s0925-4439(00)00072-7

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.PMID 11068191Read ↗

Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.Semantic proximity Read ↗

<i>TSC1</i>mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing resultsSemantic proximity Read ↗

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.Semantic proximity Read ↗

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.Semantic proximity Read ↗

A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.Semantic proximity Read ↗

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.Semantic proximity Read ↗

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.Semantic proximity Read ↗

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read ↗

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.Semantic proximity Read ↗

Bioinformatics and mutations leading to exon skipping.Semantic proximity Read ↗

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: an in silico approachSemantic proximity Read ↗

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