Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.

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Title: Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
Authors: Kent OA; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada. kent.uhn@gmail.com., Saha M; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Coyaud E; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Burston HE; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Law N; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada.; STTARR Innovation Center, University Health Network, Toronto, ON, Canada., Dadson K; Toronto General Research Institute, 100 College Street, Toronto, ON, M5G 1L7, Canada., Chen S; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Laurent EM; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., St-Germain J; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Sun RX; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Matsumoto Y; Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, 700-8558, Japan., Cowen J; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Montgomery-Song A; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Brown KR; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Ishak C; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., Rose J; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada., De Carvalho DD; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada., He HH; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada., Raught B; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada., Billia F; Toronto General Research Institute, 100 College Street, Toronto, ON, M5G 1L7, Canada.; Division of Cardiology, University Health Network, Toronto, ON, Canada., Kannu P; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Rottapel R; Princess Margaret Cancer Centre, University Health Network, 101 College Street, Toronto, ON, M5G 1×5, Canada. rottapel@gmail.com.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada. rottapel@gmail.com.; Departments of Medicine and Immunology, University of Toronto, Toronto, ON, Canada. rottapel@gmail.com.; Division of Rheumatology, St. Michael's Hospital, Toronto, ON, Canada. rottapel@gmail.com.
Source: Nature communications [Nat Commun] 2020 Sep 16; Vol. 11 (1), pp. 4673. Date of Electronic Publication: 2020 Sep 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-020-18483-9