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Article

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

BMC medical genetics - 17 Jun 2015

Cabrera-López Cristina, Bullich Gemma, Martí Teresa, Català Violeta, Ballarín Jose, Bissler John J, Harris Peter C, Ars Elisabet, Torra Roser

Abstract excerpt

BACKGROUND: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), ar...

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Share to Magnetic Resonance Imaging
Share to Protein Kinase Inhibitors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26077033
DOI: 10.1186/s12881-015-0185-y
PMCID: PMC4631093

Genes

PKD1
TSC2
PKD2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26077033-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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