Birt-hogg-dubésyndroom is een ciliopathie

Vernooij, M. and Luijten, M. N.H. and Claessens, T. and Coull, B. J. and Van Steensel, M. A.M. (2012) Birt-hogg-dubésyndroom is een ciliopathie. Nederlands Tijdschrift voor Dermatologie en Venereologie, 22 (6). pp. 391-394. ISSN 0925-8604

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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.

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Journal Article
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Nederlands Tijdschrift voor Dermatologie en Venereologie
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Deposited On:
06 Jul 2023 08:40
Last Modified:
18 Sep 2023 02:15