Zobrazeno 1 - 10
of 332
pro vyhledávání: '"Maurice A M, van Steensel"'
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
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
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/2042fa72db0f44698267ec3b03109a15
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
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
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
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:
Journal of human genetics.
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
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
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
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
Autor:
Patrícia Caspary, Aroni Rocha, Rowdy Meijer, Hiram Larangeira de Almeida, Maurice A. M. van Steensel
Transcription factor p63 is important for embryonic regulation of ectodermal, orofacial, and limb development.1 Mutations in the p63 gene are associated with six overlapping phenotypes:2 Ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ed0e0b49bec66dbaa80648965af158
https://hdl.handle.net/10356/147051
https://hdl.handle.net/10356/147051