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

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

American journal of human genetics - 1 May 1999

Jones A C, Shyamsundar M M, Thomas M W, Maynard J, Idziaszczyk S, Tomkins S, Sampson J R, Cheadle J P

Abstract excerpt

Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic and are thought to represent new mutations. TSC is caused by mutations affecting either of the presumed tumor-suppressor genes, TSC1 and TSC2. Both appear to function as tumor suppressors, because somatic loss or intragenic mutation of the...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Family

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

Share to Polymorphism, Single-Stranded Conformational

Share to Repressor Proteins

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 10205261
DOI: 10.1086/302381
PMCID: PMC1377866

Genes

TSC1
TSC2

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

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.PMID 10205261Read ↗

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.Semantic proximity Read ↗

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Semantic proximity Read ↗

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

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis ComplexSemantic proximity Read ↗

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.Semantic proximity Read ↗

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.Semantic proximity Read ↗

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.Semantic proximity Read ↗

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.Semantic proximity Read ↗

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.Semantic proximity Read ↗

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practiceSemantic proximity Read ↗

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.Semantic proximity Read ↗

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