Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bregje van Bon"'
Autor:
Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J. Kaiser, Erwan Watrin, Han Brunner, Alvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a cl
Externí odkaz:
https://doaj.org/article/3a21a85edc97413aa5f192b307a93267
Autor:
Geeske van Woerden, Richelle Senden, Charlotte de Konink, Rossella Avagliano Trezza, anwar baban, Jennifer Bassetti, Yolande Van Bever, Lynne Bird, Bregje van Bon, Alice Brooks, Qiaoning Guan, Eric Klee, Carlo Marcelis, Joel Morales-Rosado, Lisa Schimmenti, Amy Shikany, Paulien Terhal, Kathryn Weaver, Marja Wessels, Hester van Wieringen, Anna Hurst, Catherine Gooch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d071d1b505bd9fbdcafd98c20546d9e3
https://doi.org/10.22541/au.163741470.06165246/v1
https://doi.org/10.22541/au.163741470.06165246/v1
Autor:
Francesca Mari, Albertien M. Van Eerde, Bernd Wollnik, Krystyna Chrzanowska, Bregje Van Bon, Yoshinori Tsurusaki, Dagmar Wieczorek, John Dean
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:262-275
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SM
Autor:
Frank, Oeffner, Francisco, Martinez, Julie, Schaffer, Aïcha, Salhi, Sandra, Monfort, Silvestre, Oltra, Ulrike, Neidel, Dorothea, Bornholdt, Bregje, van Bon, Arne, König, Rudolf, Happle, Karl-Heinz, Grzeschik
Publikováno v:
Experimental dermatology. 20(5)
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription fact