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Article

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

Proceedings of the National Academy of Sciences of the United States of America - 23 May 2000

Carsillo T, Astrinidis A, Henske E P

Abstract excerpt

Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is of unusual interest biologically because it affects almost exclusively young women. LAM can occur as an isolated disorder (sporadic LAM) or in association with tuberous sclerosis complex. Renal angiomyolipomas, which are found in...

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Source

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Identifiers

PMID: 10823953
DOI: 10.1073/pnas.97.11.6085
PMCID: PMC18562

Genes

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

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Research trail→

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Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.PMID 10823953Read ↗

Mutational analysis of the tuberous sclerosis gene<i>TSC2</i> in patients with pulmonary lymphangioleiomyomatosisSemantic proximity Read ↗

Chromosome 16 Loss of Heterozygosity in Tuberous Sclerosis and Sporadic LymphangiomyomatosisSemantic proximity Read ↗

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.Semantic proximity Read ↗

Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosisSemantic proximity Read ↗

Clinical and molecular insights into lymphangioleiomyomatosis.Semantic proximity Read ↗

Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.Semantic proximity Read ↗

A Case of Tuberous Sclerosis Complex with Lymphangioleiomyomatosis and Renal Cell CarcinomaSemantic proximity Read ↗

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.Semantic proximity Read ↗

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.Semantic proximity Read ↗

Lymphangioleiomyomatosis and tuberous sclerosis complex.Semantic proximity Read ↗

Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of TSC2 mutations, a case report.Semantic proximity Read ↗

A case of tuberous sclerosis complex associated lymphangioleiomyomatosis and review of literaturesSemantic proximity Read ↗

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