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

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Human mutation - 1 Apr 2004

Feng Jian-Hua, Yamamoto Toshiyuki, Nanba Eiji, Ninomiya Haruaki, Oka Akira, Ohno Kousaku

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been report...

Read the complete abstract on PubMed

Topics

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

Share to Down-Regulation
Share to Mutagenesis, Insertional
Share to Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Repressor Proteins

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Cells, Cultured

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 15024740
DOI: 10.1002/humu.9225

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15024740-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.PMID 15024740Read ↗

A novel TSC2 mutation causing tuberless tuberous sclerosis.Semantic proximity Read ↗

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.Semantic proximity Read ↗

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatmentSemantic proximity Read ↗

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.Semantic proximity Read ↗

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

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.Semantic proximity Read ↗

TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.Semantic proximity Read ↗

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

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC LesionsSemantic proximity Read ↗

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.Semantic proximity Read ↗

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

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosisSemantic proximity Read ↗

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