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

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

Journal of child neurology - 1 Sept 2004

Au Kit-Sing, Williams Aimee T, Gambello Michael J, Northrup Hope

Abstract excerpt

Tuberous sclerosis complex is an autosomal dominant disease of benign tumors occurring in multiple organ systems of the body. Either of two genes, TSC1 or TSC2, can be mutated, resulting in the tuberous sclerosis complex phenotype. The protein products of the tuberous sclerosis complex genes, hamartin (TSC1) and tuberin (TSC2), have been discovered to play important roles in several cell-signaling pathways....

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion
Share to Genes, Tumor Suppressor
Share to Proteins

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

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

Identifiers

PMID: 15563017
DOI: 10.1177/08830738040190091101

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

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.PMID 15563017Read ↗

Genetics and Molecular Biology of Tuberous Sclerosis ComplexSemantic proximity Read ↗

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.Semantic proximity Read ↗

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

New insights into tuberous sclerosis complex: from structure to pathogenesisSemantic proximity Read ↗

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

Updated Genotype-Phenotype Correlations in TSC.Semantic proximity Read ↗

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

Tuberous Sclerosis Complex: A ReviewSemantic proximity Read ↗

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.Semantic proximity Read ↗

Tuberous sclerosis complex.Semantic proximity Read ↗

Tuberous sclerosis complexSemantic proximity Read ↗

Tuberous sclerosis complex: Recent advances in manifestations and therapy.Semantic proximity Read ↗

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