Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

Human Molecular Genetics

Volumn 25, Issue 9, 2016, Pages 1824-1835

  Casey, Jillian P ^a,b   Brennan, Kieran ^b   Scheidel, Noemie ^b   McGettigan, Paul ^b   Lavin, Paul T ^b   Carter, Stephen ^b   Ennis, Sean ^b   Dorkins, Huw ^c,d,e   Ghali, Neeti ^c   Blacque, Oliver E ^b   Mc Gee, Margaret M ^b   Murphy, Helen ^f   Lynch, Sally Ann ^a,b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c NORTHWICK PARK HOSPITAL   (United Kingdom)

^d LEICESTER ROYAL INFIRMARY   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DERIVATIVE; PROTEIN NEK9; UNCLASSIFIED DRUG; NEK9 PROTEIN, HUMAN; NIMA RELATED KINASE;

ARTICLE; BONE DYSPLASIA; CAENORHABDITIS ELEGANS; CELL CYCLE; CELL PROLIFERATION; CILIATED EPITHELIUM CELL; CONTROLLED STUDY; EXOME; FETUS; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IRISH (CITIZEN); PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CELL CULTURE; CILIUM; FEMALE; GENETICS; GROWTH, DEVELOPMENT AND AGING; INFANT; MALE; METABOLISM; MUTATION; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; PEDIGREE; PHYSIOLOGY; RECESSIVE GENE;

ANIMALS; CAENORHABDITIS ELEGANS; CELL CYCLE; CELLS, CULTURED; CILIA; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HUMANS; INFANT; MALE; MUTATION; NIMA-RELATED KINASES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84991338015     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw054     Document Type: Article

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