The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Nature Genetics

Volumn 46, Issue 8, 2014, Pages 905-911

  Thauvin Robinet, Christel ^a,b   Lee, Jaclyn S ^c   Lopez, Estelle ^a   Herranz Pérez, Vicente ^d   Shida, Toshinobu ^c   Franco, Brunella ^e,f   Jego, Laurence ^a   Ye, Fan ^c   Pasquier, Laurent ^g   Loget, Philippe ^g   Gigot, Nadège ^a   Aral, Bernard ^a   Lopes, Carla A M ^h   St Onge, Judith ^a   Bruel, Ange Line ^a   Thevenon, Julien ^a,b   González Granero, Susana ^d   Alby, Caroline ^i,j   Munnich, Arnold ^i,j   Vekemans, Michel ^i,j   Huet, Frédéric ^a,b   Fry, Andrew M ^h   Saunier, Sophie ^j,k   Rivière, Jean Baptiste ^a   Attié Bitach, Tania ^i,j   Garcia Verdugo, Jose Manuel ^d   Faivre, Laurence ^a,b   Mégarbané, André ^l   Nachury, Maxence V ^c   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b Medical University of Dijon   (France)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF VALENCIA   (Spain)

^e TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g RENNES UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY OF LEICESTER   (United Kingdom)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^k INSERM   (France)

^l SAINT JOSEPH UNIVERSITY   (Lebanon)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CENTRIN; ORAL FACIAL DIGITAL SYNDROME PROTEIN 1; PROTEIN; UNCLASSIFIED DRUG; C2CD3 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; OFD1 PROTEIN, HUMAN;

ARTICLE; BRAIN MALFORMATION; C2CD3 GENE; CASE REPORT; CELL ELONGATION; CENTRIOLE; CENTRIOLE ELONGATION; CHILD; CONSENSUS SEQUENCE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRON MICROSCOPY; EXON; FETUS; FLUORESCENCE MICROSCOPY; GENE; GENE LOCATION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; MALE; MECKEL SYNDROME; MICROCEPHALY; MICROPENIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; CELL LINE; DYSOSTOSIS; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE;

CELL LINE; CENTRIOLES; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; MALE; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; OROFACIODIGITAL SYNDROMES; PROTEINS;

EID: 84906101758     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3031     Document Type: Article

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