De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-po...
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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Author / Creator
FORGE Canada Consortium , Mirzaa, Ghayda M , Parry, David A , Fry, Andrew E , Giamanco, Kristin A , Schwartzentruber, Jeremy , Vanstone, Megan , Logan, Clare V , Roberts, Nicola , Johnson, Colin A , Singh, Shawn , Kholmanskikh, Stanislav S , Adams, Carissa , Hodge, Rebecca D , Hevner, Robert F , Bonthron, David T , Braun, Kees P J , Faivre, Laurence , Rivière, Jean-Baptiste , St-Onge, Judith , Gripp, Karen W , Mancini, Grazia M S , Pang, Ki , Sweeney, Elizabeth , van Esch, Hilde , Verbeek, Nienke , Wieczorek, Dagmar , Steinraths, Michelle , Majewski, Jacek , Boycott, Kym M , Pilz, Daniela T , Ross, M Elizabeth , Dobyns, William B and Sheridan, Eamonn G
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by
de novo
missense mutations in
CCND2
. They show that these mutations lead to stabilization of cyclin D2, and they present evidence that cyclin D2 stabilization may be a common downstream mechanism in PI3K-AKT–associated megalenceph...
Alternative Titles
Full title
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Authors, Artists and Contributors
Author / Creator
Mirzaa, Ghayda M
Parry, David A
Fry, Andrew E
Giamanco, Kristin A
Schwartzentruber, Jeremy
Vanstone, Megan
Logan, Clare V
Roberts, Nicola
Johnson, Colin A
Singh, Shawn
Kholmanskikh, Stanislav S
Adams, Carissa
Hodge, Rebecca D
Hevner, Robert F
Bonthron, David T
Braun, Kees P J
Faivre, Laurence
Rivière, Jean-Baptiste
St-Onge, Judith
Gripp, Karen W
Mancini, Grazia M S
Pang, Ki
Sweeney, Elizabeth
van Esch, Hilde
Verbeek, Nienke
Wieczorek, Dagmar
Steinraths, Michelle
Majewski, Jacek
Boycott, Kym M
Pilz, Daniela T
Ross, M Elizabeth
Dobyns, William B
Sheridan, Eamonn G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4004933
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4004933
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2948
