Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kevin Daupin"'
Autor:
Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Abstract Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). The biological pathways underlying these neurodevelopmental defect
Externí odkaz:
https://doaj.org/article/9f7e7aecc3a8463b9a5732585bfbb110
Autor:
Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/4589c26879ce46d1a03bf9df8d0e1d72
Autor:
Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska
Publikováno v:
PLoS ONE, Vol 14, Iss 7, p e0219280 (2019)
Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome. To determine i
Externí odkaz:
https://doaj.org/article/412905e3589f4083b86131b0c47d5a1e
Autor:
Marie-Claude Beauchamp, Loydie Jerome Majewska, Jacek Majewski, Anissa Djedid, Kayla Clokie, Kevin Daupin
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5475a287e073ef5a11f7e0cbb9647985
https://doi.org/10.1096/fasebj.2019.33.1_supplement.774.20
https://doi.org/10.1096/fasebj.2019.33.1_supplement.774.20
Autor:
Marie-Claude Beauchamp, Sabrina Shameen Alam, Anissa Djedid, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie A. Jerome-Majewska, Kevin Daupin
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2be06e14b188ff619cf9e0f9a10eeaf7
https://doi.org/10.1096/fasebj.2019.33.1_supplement.72.1
https://doi.org/10.1096/fasebj.2019.33.1_supplement.72.1