Maurice A. M. van Steensel

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We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show here that these common European mutations are ancestral variants carried on conserved haplotypes. To facilitate comprehensive analysis of other populations, we report a strategy for full sequencing(More)
Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. In a large Chinese family carrying MUHH, we identified a pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5′ UTR of the gene encoding the human hairless homolog (HR). U2HR is predicted to encode a 34–amino acid peptide that is highly(More)
Cell-to-cell communication triggered by connexin channels plays a central role in maintaining epidermal homeostasis. Here, we discuss the role of the beta connexin subgroup, where site-specific mutations in at least 4 of these proteins lead to distinctive non-inflammatory and inflammatory hyperproliferative epidermal disorders. Recent advances in the(More)
Procedures are being developed which use isolated articular cartilage (AC) chondrocytes to restore damaged articular surfaces. The availability of isolated human chondrocytes for transplantation may be increased by low-temperature storage (banking). At present, no single method of freezing chondrocytes has been proven to be optimal. In this project, two(More)
Borrone Dermato-Cardio-Skeletal (BDCS) syndrome is a severe progressive autosomal recessive disorder characterized by coarse facies, thick skin, acne conglobata, dysmorphic facies, vertebral abnormalities and mitral valve prolapse. We identified a consanguineous kindred with a child clinically diagnosed with BDCS. Linkage analysis of this family (BDCS1)(More)
Background. A patient with Birt–Hogg–Dubé syndrome (BHD) presented with gross hematuria of 6 months' duration. Imaging revealed the presence of a mass in the left prostatic lobe, in addition to a previously observed renal mass. Prostate biopsy and imaging findings indicated an inflammatory etiology, and the patient was discharged. 5 months later, the(More)
Sweat testing using a modified version of the method described by Minor was performed in 5 children affected with hypomelanosis of Ito. In 4 cases the areas of hypopigmentation were arranged in patterns following the lines of Blaschko, whereas in one case a phylloid pattern was observed. In 4 cases the hypomelanotic areas were shown to be anhidrotic. In one(More)
Mark S Silverberg, Judy H Cho, John D Rioux, Dermot P B McGovern, Jing Wu, Vito Annese, Jean-Paul Achkar, Philippe Goyette, Regan Scott, Wei Xu, M Michael Barmada, Lambertus Klei, Mark J Daly, Clara Abraham, Theodore M Bayless, Fabrizio Bossa, Anne M Griffiths, Andrew F Ippoliti, Raymond G Lahaie, Anna Latiano, Pierre Paré, Deborah D Proctor, Miguel D(More)
The Fourth Birt–Hogg–Dubé Symposium, Cincinnati, USA, 28–30 March, 2012 Springer Science+Business Media B.V. 2012 FLCN loss causes hematopoietic stem cell homeostasis dysregulation and myeloproliferative disease Masaya Baba, Hyung-Chan Suh, Hisashi Hasumi, Yukiko Hasumi, Ming Ji, Mara E. Klein, Laura S. Schmidt, W. Marston Linehan, Jonathan R. Keller Staff(More)
Birt-Hogg-Dubé syndrome (MIM #135150) is characterized by the development of benign skin tumours called fibrofolliculomas, pulmonary cysts that may lead to pneumothorax and a high risk of developing kidney cancer. BHD is caused by mutations affecting the highly conserved protein folliculin (FLCN), which probably has a role in intracellular transport. Most(More)