Birt-Hogg-Dubé syndrom

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

Birt-Hogg-Dubé syndrom

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

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 syndrome
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	172
Udgave nummer	29
Sider (fra-til)	2085-90
Antal sider	6
Status	Udgivet - 19 jul. 2010
Udgivet eksternt	Ja

Emneord

Cysts
Genetic Testing
Hamartoma
Humans
Kidney Neoplasms
Lung Neoplasms
Mutation
Pneumothorax
Proto-Oncogene Proteins
Skin Neoplasms
Syndrome
Tumor Suppressor Proteins

Citationsformater

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title = "Birt-Hogg-Dub{\'e} syndrom",

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.",

keywords = "Cysts, Genetic Testing, Hamartoma, Humans, Kidney Neoplasms, Lung Neoplasms, Mutation, Pneumothorax, Proto-Oncogene Proteins, Skin Neoplasms, Syndrome, Tumor Suppressor Proteins",

author = "Rehfeld, {Anders Aagaard} and {van Steensel}, {Maurice A M} and Lennart Friis-Hansen",

year = "2010",

month = jul,

day = "19",

language = "Dansk",

volume = "172",

pages = "2085--90",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "29",

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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.

KW - Cysts

KW - Genetic Testing

KW - Hamartoma

KW - Humans

KW - Kidney Neoplasms

KW - Lung Neoplasms

KW - Mutation

KW - Pneumothorax

KW - Proto-Oncogene Proteins

KW - Skin Neoplasms

KW - Syndrome

KW - Tumor Suppressor Proteins

M3 - Tidsskriftartikel

C2 - 20633341

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

Emneord

Fingeraftryk

Citationsformater