Zobrazeno 1 - 10 of 375 pro vyhledávání: '"Maurice A M van Steensel"'
1
Akademický článek
Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma.
Autor: Tjinta Brinkhuizen, Chantal A H Weijzen, Jonathan Eben, Monique R Thissen, Ariënne M van Marion, Björn G Lohman, Véronique J L Winnepenninckx, Patty J Nelemans, Maurice A M van Steensel
Publikováno v: PLoS ONE, Vol 9, Iss 9, p e106427 (2014)
BackgroundBasal cell carcinoma (BCC) is the most common cancer in Caucasians. Trichoepithelioma (TE) is a benign neoplasm that strongly resembles BCC. Both are hair follicle (HF) tumours. HFs are hypoxic microenvironments, therefore we hypothesized t
Externí odkaz: https://doaj.org/article/074f8369880a490fa68e9e6722d21a80
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2
Akademický článek
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.
Autor: Lieke M C Gijezen, Marigje Vernooij, Herm Martens, Charlene E U Oduber, Charles J M Henquet, Theo M Starink, Martin H Prins, Fred H Menko, Patty J Nelemans, Maurice A M van Steensel
Publikováno v: PLoS ONE, Vol 9, Iss 6, p e99071 (2014)
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterised by the occurrence of benign, mostly facial, skin tumours called fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax and an increased renal cancer risk. Cu
Externí odkaz: https://doaj.org/article/0442248d0e704b08977c88ccf54d3d75
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3
Akademický článek
Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components.
Autor: Tjinta Brinkhuizen, Karin van den Hurk, Véronique J L Winnepenninckx, Joep P de Hoon, Ariënne M van Marion, Jürgen Veeck, Manon van Engeland, Maurice A M van Steensel
Publikováno v: PLoS ONE, Vol 7, Iss 12, p e51710 (2012)
BackgroundThe genetic background of Basal Cell Carcinoma (BCC) has been studied extensively, while its epigenetic makeup has received comparatively little attention. Epigenetic alterations such as promoter hypermethylation silence tumor suppressor ge
Externí odkaz: https://doaj.org/article/c538522c95144ee4a3d887164b480cdd
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4
Akademický článek
Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche
Autor: Sophia Beng Hui Lim, Shang Wei, Andy Hee-Meng Tan, Maurice A. M. van Steensel, Xinhong Lim
Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Niche cells are widely known to regulate stem/progenitor cells in many mammalian tissues. In the hair, dermal papilla niche cells are well accepted to regulate hair stem/progenitor cells. However, how niche cells themselves are maintained is
Externí odkaz: https://doaj.org/article/f61eece7eaf44375b893ba27101645a2
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5
Akademický článek
Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
Autor: Irma van de Beek, Maurice A. M. van Steensel, Arjan C. Houweling
Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-4 (2022)
Abstract The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the
Externí odkaz: https://doaj.org/article/dc465f720f754a25b056be7757f093cc
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7
Akademický článek
The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome
Autor: Ivo J. H. M. de Vos, Arnette Shi Wei Wong, Jason Taslim, Sheena Li Ming Ong, Nicole C. Syder, Julian L. Goggi, Thomas J. Carney, Maurice A. M. van Steensel
Publikováno v: Biology Open, Vol 9, Iss 12 (2020)
Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the defective collagen remodelling spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes inclu
Externí odkaz: https://doaj.org/article/fbf0145d5183405281f6adafd7b26f1b
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8
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
Autor: Irma van de Beek, Iris E. Glykofridis, Anja Wagner, Dorine T. den Toom, Ernie M. H. F. Bongers, Geert J. L. H. van Leenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. van Steensel, Hendrikus J. Dubbink, Arjan C. Houweling
Publikováno v: Molecular Genetics and Genomic Medicine. John Wiley and Sons Inc.
van de Beek, I, Glykofridis, I E, Wagner, A, den Toom, D T, Bongers, E M H F, van Leenders, G J L H, Johannesma, P C, Meijers-Heijboer, H E J, Wolthuis, R M F, van Steensel, M A M, Dubbink, H J & Houweling, A C 2022, ' Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors ', Molecular Genetics and Genomic Medicine . https://doi.org/10.1002/mgg3.2098
Molecular Genetics and Genomic Medicine, 11(2):e2098. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, 11
Molecular Genetics & Genomic Medicine, 11, 2
Contains fulltext : 291168.pdf (Publisher’s version ) (Open Access) BACKGROUND: We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic test
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a7b777115f9282b3492b18fc7f1d22
https://doi.org/10.1002/mgg3.2098
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9
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
Autor: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz
Publikováno v: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group
Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2dc04d649ec5fe2082f5e11c601c87
http://www.scopus.com/inward/record.url?scp=85145610461&partnerID=8YFLogxK
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10
Comment on Balsamo et al.:Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
Autor: Irma van de Beek, Maurice A. M. van Steensel, Arjan C. Houweling
Publikováno v: van de Beek, I, van Steensel, M A M & Houweling, A C 2022, ' Comment on Balsamo et al. Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature ', BMC Medical Genomics, vol. 15, no. 1, 84, pp. 84 . https://doi.org/10.1186/s12920-022-01229-5
BMC medical genomics, 15(1):84. BioMed Central
BMC Medical Genomics, 15(1):84. BioMed Central
BMC Medical Genomics, 15(1). BioMed Central
The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the previousl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ab14b015bbeec917dca8c72e154ece
https://research.vumc.nl/en/publications/d66ee977-809e-4d52-a526-6f2c82995782
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