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Article

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.

Human molecular genetics - 1 Mar 2002

Kwiatkowski David J, Zhang Hongbing, Bandura Jennifer L, Heiberger Kristina M, Glogauer Michael, el-Hashemite Nisreen, Onda Hiroaki

Abstract excerpt

Tuberous sclerosis (TSC) is a autosomal dominant genetic disorder caused by mutations in either TSC1 or TSC2, and characterized by benign hamartoma growth. We developed a murine model of Tsc1 disease by gene targeting. Tsc1 null embryos die at mid-gestation from a failure of liver development. Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency, but the incidence of kidney...

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Source

Identifiers

PMID: 11875047
DOI: 10.1093/hmg/11.5.525

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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