Birt-Hogg-Dubé syndrom

Anders Aagaard Rehfeld; Maurice A M van Steensel; Lennart Friis-Hansen

Birt-Hogg-Dubé syndrom

Bidragets oversatte titel: Birt-Hogg-Dubé syndrom

Anders Aagaard Rehfeld, Maurice A M van Steensel, Lennart Friis-Hansen

Institut for Klinisk Medicin

Abstract

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

Bidragets oversatte titel	Birt-Hogg-Dubé syndrom
Originalsprog	Engelsk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	172
Udgave nummer	29
Sider (fra-til)	2085-90
Antal sider	6
ISSN	0041-5782
Status	Udgivet - 19 jul. 2010

Citationsformater

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abstract = "Birt-Hogg-Dub{\'e} (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.",

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volume = "172",

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TY - JOUR

T1 - Birt-Hogg-Dubé syndrom

AU - Rehfeld, Anders Aagaard

AU - van Steensel, Maurice A M

AU - Friis-Hansen, Lennart

PY - 2010/7/19

Y1 - 2010/7/19

N2 - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

AB - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

M3 - Journal article

SN - 0041-5782

VL - 172

SP - 2085

EP - 2090

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 29

ER -

Birt-Hogg-Dubé syndrom

Abstract

Fingeraftryk

Citationsformater