TY - JOUR

T1 - Birt-hogg-dubésyndroom is een ciliopathie

AU - Vernooij, M.

AU - Luijten, M. N.H.

AU - Claessens, T.

AU - Coull, B. J.

AU - Van Steensel, M. A.M.

PY - 2012/6

Y1 - 2012/6

N2 - BHD syndrome is a rare autosomal dominant inherited disease in which fibrofolliculomas, trichodiscomas, renal tumours and pneumothorax caused by lung cysts can occur. The pathophysiology is largely unknown. We show that BHD syndrome is a ciliopathy in which the causal protein, folliculin, is located in the primary cilium. In folliculin knockdown cells, less cilia are observed. Further research will give more insight into the pathophysiology of BHD syndrome.

AB - BHD syndrome is a rare autosomal dominant inherited disease in which fibrofolliculomas, trichodiscomas, renal tumours and pneumothorax caused by lung cysts can occur. The pathophysiology is largely unknown. We show that BHD syndrome is a ciliopathy in which the causal protein, folliculin, is located in the primary cilium. In folliculin knockdown cells, less cilia are observed. Further research will give more insight into the pathophysiology of BHD syndrome.

KW - Birt-hogg-dubé syndrome

KW - Cilium

KW - Folliculin

UR - http://www.scopus.com/inward/record.url?scp=84862642876&partnerID=8YFLogxK

M3 - Journal article

AN - SCOPUS:84862642876

VL - 22

SP - 391

EP - 394

JO - Nederlands Tijdschrift voor Dermatologie en Venereologie

JF - Nederlands Tijdschrift voor Dermatologie en Venereologie

SN - 0925-8604

IS - 6

ER -