De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Nature Genetics

Volumn 46, Issue 5, 2014, Pages 510-515

  Mirzaa, Ghayda M ^a,b   Parry, David A ^c   Fry, Andrew E ^d   Giamanco, Kristin A ^e   Schwartzentruber, Jeremy ^f   Vanstone, Megan ^g   Logan, Clare V ^c   Roberts, Nicola ^c   Johnson, Colin A ^d   Singh, Shawn ^e   Kholmanskikh, Stanislav S ^e   Adams, Carissa ^a   Hodge, Rebecca D ^a,b   Hevner, Robert F ^a,b,h   Bonthron, David T ^c   Braun, Kees P J ⁱ   Faivre, Laurence ^j   Rivière, Jean Baptiste ^j   St Onge, Judith ^j   Gripp, Karen W ^k   Mancini, Grazia M S ^l   Pang, Ki ^m   Sweeney, Elizabeth ⁿ   Van Esch, Hilde ^o   Verbeek, Nienke ⁱ   Wieczorek, Dagmar ^p   Steinraths, Michelle ^q   Majewski, Jacek ^f   Boycott, Kym M ^g   Pilz, Daniela T ^d   Ross, M Elizabeth ^e   Dobyns, William B ^a,b,h   Sheridan, Eamonn G ^c   Friedman, J ^q   Michaud, J ^r   Bernier, F ^s   Brudno, M ^t   Fernandez, B ^u   Knoppers, B ^f   Samuels, M ^r   Scherer, S ^t   more..

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^e FEIL FAMILY BRAIN AND MIND RESEARCH INSTITUTE   (United States)

^f MCGILL UNIVERSITY   (Canada)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITÉ DE BOURGOGNE   (France)

^k NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^l ERASMUS MEDICAL CENTER   (Netherlands)

^m ROYAL VICTORIA INFIRMARY   (United Kingdom)

ⁿ LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^o UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^p UNIVERSITY HOSPITAL ESSEN   (Germany)

^q UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^r UNIVERSITÉ DE MONTRÉAL   (Canada)

^s UNIVERSITY OF CALGARY   (Canada)

^t UNIVERSITY OF TORONTO   (Canada)

^u MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN D2; GLYCOGEN SYNTHASE KINASE 3BETA; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEASOME; PROTEIN KINASE B;

ANIMAL EXPERIMENT; ARTICLE; BRAIN MALFORMATION; CONTROLLED STUDY; ELECTROPORATION; EMBRYO; ENZYME PHOSPHORYLATION; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; IMMUNODETECTION; IN VITRO STUDY; INTERNAL RIBOSOME ENTRY SITE; MEGALENCEPHALY POLYMICROGYRIAPOLYDACTYLY HYDROCEPHALUS SYNDROME; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; SIGNAL TRANSDUCTION; STEM CELL;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; BROMODEOXYURIDINE; CYCLIN D2; ELECTROPORATION; EXOME; FEMALE; HEK293 CELLS; HUMANS; HYDROCEPHALUS; IMMUNOHISTOCHEMISTRY; MACROCEPHALY; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; POLYDACTYLY; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84899650142     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2948     Document Type: Article

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