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Article

Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development.

The American journal of pathology - 1 Feb 2003

Cai Shengli, Everitt Jeffrey I, Kugo Hiroyuki, Cook Jennifer, Kleymenova Elena, Walker Cheryl Lyn

Abstract excerpt

Somatic loss of function of the tuberous sclerosis 2 (TSC2) tumor suppressor gene leads to the development of benign and malignant lesions of the kidney, brain, uterus, spleen, and liver and germline loss of function of this tumor suppressor gene is embryonic lethal. In addition, the gene product of TSC2, tuberin, is necessary for normal function of the polycystic kidney disease 1 (PKD1) gene product,...

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Source

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Identifiers

PMID: 12547704
DOI: 10.1016/S0002-9440(10)63840-0
PMCID: PMC1851170

Genes

TSC2
PKD1

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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Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development.PMID 12547704Read ↗

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