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Article

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.

Proceedings of the National Academy of Sciences of the United States of America - 3 Nov 2009

Hasumi Yukiko, Baba Masaya, Ajima Rieko, Hasumi Hisashi, Valera Vladimir A, Klein Mara E, Haines Diana C, Merino Maria J, Hong Seung-Beom, Yamaguchi Terry P, Schmidt Laura S, Linehan W Marston

Abstract excerpt

Germline mutations in the BHD/FLCN tumor suppressor gene predispose patients to develop renal tumors in the hamartoma syndrome, Birt-Hogg-Dubé (BHD). BHD encodes folliculin, a protein with unknown function that may interact with the energy- and nutrient-sensing AMPK-mTOR signaling pathways. To cl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mechanistic Target of Rapamycin Complex 1

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Share to TOR Serine-Threonine Kinases

Source

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Identifiers

PMID: 19850877
DOI: 10.1073/pnas.0908853106
PMCID: PMC2765925

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19850877-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.PMID 19850877Read ↗

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