Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

por van de Beek, Irma, van Steensel, Maurice A. M., Houweling, Arjan C.
Publicado 2022

Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

por Lim, Sophia Beng Hui, Wei, Shang, Tan, Andy Hee-Meng, van Steensel, Maurice A. M., Lim, Xinhong
Publicado 2023

Author Correction: Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

por Lim, Sophia Beng Hui, Wei, Shang, Tan, Andy Hee-Meng, van Steensel, Maurice A. M., Lim, Xinhong
Publicado 2023

PATHOGENESIS-BASED THERAPY REVERSES CUTANEOUS ABNORMALITIES IN AN INHERITED DISORDER OF DISTAL CHOLESTEROL METABOLISM

por Paller, Amy S., van Steensel, Maurice A. M., Rodriguez-Martín, Marina, Sorrell, Jennifer, Heath, Candrice, Crumrine, Debra, van Geel, Michel, Cabrera, Antonio Noda, Elias, Peter M.
Publicado 2011

Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis

por Kenyon, Emma J., Luijten, Monique N. H., Gill, Harmeet, Li, Nan, Rawlings, Matthew, Bull, James C., Hadzhiev, Yavor, van Steensel, Maurice A. M., Maher, Eamonn, Mueller, Ferenc
Publicado 2016

Epigenetic Changes in Basal Cell Carcinoma Affect SHH and WNT Signaling Components

por Brinkhuizen, Tjinta, van den Hurk, Karin, Winnepenninckx, Véronique J. L., de Hoon, Joep P., van Marion, Ariënne M., Veeck, Jürgen, van Engeland, Manon, van Steensel, Maurice A. M.
Publicado 2012

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

por Easton, Jennifer A, Donnelly, Steven, Kamps, Miriam A F, Steijlen, Peter M, Martin, Patricia E, Tadini, Gianluca, Janssens, René, Happle, Rudolf, van Geel, Michel, van Steensel, Maurice A M
Publicado 2012

Immunohistochemical Analysis of the Mechanistic Target of Rapamycin and Hypoxia Signalling Pathways in Basal Cell Carcinoma and Trichoepithelioma

por Brinkhuizen, Tjinta, Weijzen, Chantal A. H., Eben, Jonathan, Thissen, Monique R., van Marion, Ariënne M., Lohman, Björn G., Winnepenninckx, Véronique J. L., Nelemans, Patty J., van Steensel, Maurice A. M.
Publicado 2014

The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

por de Vos, Ivo J. H. M., Wong, Arnette Shi Wei, Taslim, Jason, Ong, Sheena Li Ming, Syder, Nicole C., Goggi, Julian L., Carney, Thomas J., van Steensel, Maurice A. M.
Publicado 2020

Reorganization of the nuclear lamina and cytoskeleton in adipogenesis

por Verstraeten, Valerie L. R. M., Renes, Johan, Ramaekers, Frans C. S., Kamps, Miriam, Kuijpers, Helma J., Verheyen, Fons, Wabitsch, Martin, Steijlen, Peter M., van Steensel, Maurice A. M., Broers, Jos L. V.
Publicado 2011

Report of the tenth annual International Pachyonychia Congenita Consortium meeting

por van Steensel, Maurice A.M., Coulombe, Pierre A., Kaspar, Roger L., Milstone, Leonard M., McLean, W.H. Irwin, Roop, Dennis R., Smith, Frances J.D., Sprecher, Eli, Schwartz, Mary E.
Publicado 2014

Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dubé Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial

por Gijezen, Lieke M. C., Vernooij, Marigje, Martens, Herm, Oduber, Charlene E. U., Henquet, Charles J. M., Starink, Theo M., Prins, Martin H., Menko, Fred H., Nelemans, Patty J., van Steensel, Maurice A. M.
Publicado 2014

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

por van de Beek, Irma, Glykofridis, Iris E., Wagner, Anja, den Toom, Dorine T., Bongers, Ernie M. H. F., van Leenders, Geert J. L. H., Johannesma, Paul C., Meijers‐Heijboer, Hanne E. J., Wolthuis, Rob M. F., van Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
Publicado 2022

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

por de Vos, Ivo J H M, Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Goggi, Julian L, Scerri, Thomas, Wilson, Gabrielle R, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, Stegmann, Alexander P A, van Geel, Michel, Janssen, Renske, Amor, David J, Bahlo, Melanie, Dunn, Norris R, Carney, Thomas J, Lockhart, Paul J, Coull, Barry J, van Steensel, Maurice A M
Publicado 2018