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Article

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.

Genes, chromosomes & cancer - 1 Aug 1995

Henske E P, Neumann H P, Scheithauer B W, Herbst E W, Short M P, Kwiatkowski D J

Abstract excerpt

Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized: TSC1 on 9q34 and TSC2 on 16p13. Loss of heterozygosity (LOH) at the TSC1 and TSC2 loci in lesions from TSC patients has recently been reported. Lesions that are not...

Topics

Adult
Alleles
Angiomyolipoma
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 16
Genes, Tumor Suppressor
Genetic Markers
Humans
Kidney Neoplasms
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repressor Proteins

Tuberous Sclerosis

Tuberous Sclerosis Complex 2 Protein

Tumor Suppressor Proteins

Source

Identifiers

PMID: 7547639
DOI: 10.1002/gcc.2870130411

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7547639-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.PMID 7547639Read ↗

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.Semantic proximity Read ↗

Angiomyolipoma have common mutations in TSC2 but no other common genetic events.Semantic proximity Read ↗

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

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.Semantic proximity Read ↗

Loss of heterozygosity in tuberous sclerosis hamartomas.Semantic proximity Read ↗

Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma.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 ↗

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

Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomasSemantic proximity Read ↗

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressorSemantic proximity Read ↗

Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.Semantic proximity Read ↗

The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.Semantic proximity Read ↗

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