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Article

Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.

Respiratory medicine - 1 Jul 2020

Marziali Valentina, Geropoulos Georgios, Frasca Luca, Longo Filippo, Patrini Davide, Panagiotopoulos Nikolaos, Crucitti Pierfilippo

Abstract excerpt

INTRODUCTION: Brit-Hogg-Dubé syndrome (BHD) is a rare disorder that is estimated to affects about 600 families in the World. The disease-causing mutations is on FLCN gene which codes for folliculin. This protein has a role in different organs as skin, kidney and lung, thanks to the interaction with type I and II cadherins, RhoA activity and the regulation of AMPK, mTORC1 pathways and cell adhesion. The aim of our...

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Identifiers

PMID: 32469710
DOI: 10.1016/j.rmed.2020.105995

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