Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Justin Cowen"'
Autor:
Oliver A. Kent, Manipa Saha, Etienne Coyaud, Helen E. Burston, Napoleon Law, Keith Dadson, Sujun Chen, Estelle M. Laurent, Jonathan St-Germain, Ren X. Sun, Yoshinori Matsumoto, Justin Cowen, Aaryn Montgomery-Song, Kevin R. Brown, Charles Ishak, Jose La Rose, Daniel D. De Carvalho, Housheng Hansen He, Brian Raught, Filio Billia, Peter Kannu, Robert Rottapel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a trans
Externí odkaz:
https://doaj.org/article/7477dd54517347169cc4551af1667746
Autor:
Helen E. Burston, Oliver A. Kent, Ren X. Sun, Justin Cowen, Daniel D. De Carvalho, Sujun Chen, Jonathan St-Germain, Robert Rottapel, Aaryn Montgomery-Song, Manipa Saha, Yoshinori Matsumoto, Napoleon Law, Housheng Hansen He, Kevin R. Brown, Peter Kannu, Jose La Rose, Keith Dadson, Charles A. Ishak, Filio Billia, Etienne Coyaud, Brian Raught, Estelle M.N. Laurent
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications, 2020, Nature Communications, 11 (4673), ⟨10.1038/s41467-020-18483-9⟩
Nature Communications
Nature Communications, 2020, Nature Communications, 11 (4673), ⟨10.1038/s41467-020-18483-9⟩
RAS-MAPK signaling mediates processes critical to normal development including cell proliferation, survival, and differentiation. Germline mutation of RAS-MAPK genes lead to the Noonan-spectrum of syndromes. Here, we present a patient affected by a 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c26c38393f0bd745f6a39c677dc7ac5
https://doaj.org/article/7477dd54517347169cc4551af1667746
https://doaj.org/article/7477dd54517347169cc4551af1667746