Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bert BA de Vries"'
Autor:
Linda Zhang, Joanne I Hsu, Etienne D Braekeleer, Chun-Wei Chen, Tajhal D Patel, Alejandra G Martell, Anna G Guzman, Katharina Wohlan, Sarah M Waldvogel, Hidetaka Uryu, Ayala Tovy, Elsa Callen, Rebecca L Murdaugh, Rosemary Richard, Sandra Jansen, Lisenka Vissers, Bert BA de Vries, Andre Nussenzweig, Shixia Huang, Cristian Coarfa, Jamie Anastas, Koichi Takahashi, George Vassiliou, Margaret A Goodell
Publikováno v:
eLife, Vol 12 (2024)
The DNA damage response is critical for maintaining genome integrity and is commonly disrupted in the development of cancer. PPM1D (protein phosphatase Mg2+/Mn2+-dependent 1D) is a master negative regulator of the response; gain-of-function mutations
Externí odkaz:
https://doaj.org/article/8b2d747c20e044a49c29f804096153ef
Autor:
Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
Publikováno v:
medRxiv
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
Autor:
Geert Vandeweyer, Göran Annerén, Céline Helsmoortel, Paolo Bosco, Ann Nordgren, Tjitske Kleefstra, Meredith Wilson, Bert Ba de Vries, Marjolein H. Willemsen, Madhura Bakshi, Lisenka E.L.M. Vissers, Bradley P. Coe, Kali Witherspoon, Marco Fichera, Helena Malmgren, R. Frank Kooy, Liesbeth Rooms, Helger G Yntema, Jenneke van den Ende, Carlo Marcelis, Janneke H M Schuurs-Hoeijmakers, Nathalie Van der Aa, Corrado Romano, Evan E. Eichler, Anneke T. Vulto-van Silfhout
Publikováno v:
Nature Genetics, 46, 380-4
Nature genetics
Nature Genetics, 46, 4, pp. 380-4
Nature genetics
Nature Genetics, 46, 4, pp. 380-4
Contains fulltext : 137247.pdf (Publisher’s version ) (Closed access) Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ddbe074b8a15be21dc7fd0256b36ee
http://hdl.handle.net/2066/137247
http://hdl.handle.net/2066/137247