Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Nature Genetics

Volumn 46, Issue 12, 2014, Pages 1283-1292

  Martin, Carol Anne ^a   Ahmad, Ilyas ^b,c,d   Klingseisen, Anna ^a   Hussain, Muhammad Sajid ^b,c,d   Bicknell, Louise S ^a   Leitch, Andrea ^a   Nürnberg, Gudrun ^b   Toliat, Mohammad Reza ^b   Murray, Jennie E ^a   Hunt, David ^a   Khan, Fawad ^d   Ali, Zafar ^d   Tinschert, Sigrid ^e,f   Ding, James ^a   Keith, Charlotte ^g   Harley, Margaret E ^a   Heyn, Patricia ^a   Müller, Rolf ^c   Hoffmann, Ingrid ^h   Daire, Valérie Cormier ⁱ   Dollfus, Hélène ^j   Dupuis, Lucie ^k   Bashamboo, Anu ^l   McElreavey, Kenneth ^l   Kariminejad, Ariana ^m   Mendoza Londono, Roberto ^k   Moore, Anthony T ^n,o   Saggar, Anand ^p   Schlechter, Catie ^q   Weleber, Richard ^q   Thiele, Holger ^b   Altmüller, Janine ^b,c   Höhne, Wolfgang ^b   Hurles, Matthew E ^r   Noegel, Angelika Anna ^c,s   Baig, Shahid Mahmood ^d   Nürnberg, Peter ^b,c,s   Jackson, Andrew P ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^g WESTERN GENERAL HOSPITAL   (United Kingdom)

^h GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^j UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^k UNIVERSITY OF TORONTO   (Canada)

^l INSTITUT PASTEUR   (France)

^m Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o MOORFIELDS EYE HOSPITAL   (United Kingdom)

^p ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^q OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; POLO LIKE KINASE; POLO LIKE KINASE 4; UNCLASSIFIED DRUG; MICROSATELLITE DNA; MICROTUBULE ASSOCIATED PROTEIN; PLK4 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; TUBGCP6 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; BIOGENESIS; CENTRIOLE; CLINICAL FEATURE; CONTROLLED STUDY; DWARFISM; EMBRYO; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; EUKARYOTIC FLAGELLUM; GENE MUTATION; GENETIC TRANSCRIPTION; GROWTH DISORDER; MICROCEPHALY; MITOSIS; NONHUMAN; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN DEPLETION; RETINOPATHY; ZEBRA FISH; ADOLESCENT; ADULT; ANIMAL; CHILD; FAMILY HEALTH; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; GENOTYPE; HELA CELL LINE; HUMAN; INFANT; MALE; METABOLISM; MUTATION; PAKISTAN; PEDIGREE; PRESCHOOL CHILD; RETINA DEGENERATION; ULTRASTRUCTURE; YOUNG ADULT;

ADOLESCENT; ADULT; ANIMALS; CENTRIOLES; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENOTYPE; GROWTH DISORDERS; HELA CELLS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICROCEPHALY; MICROSATELLITE REPEATS; MICROTUBULE-ASSOCIATED PROTEINS; MITOSIS; MUTATION; PAKISTAN; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETINAL DEGENERATION; YOUNG ADULT; ZEBRAFISH;

EID: 84927581261     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3122     Document Type: Article

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