CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

American Journal of Human Genetics

Volumn 83, Issue 5, 2008, Pages 559-571

  Gorden, Nicholas T ^a   Arts, Heleen H ^d   Parisi, Melissa A ^a   Coene, Karlien L M ^d   Letteboer, Stef J F ^d   van Beersum, Sylvia E C ^d   Mans, Dorus A ^d   Hikida, Abigail ^a   Eckert, Melissa ^e   Knutzen, Dana ^a   Alswaid, Abdulrahman F ^f   Özyurek, Hamit ^g   Dibooglu, Sel ^h   Otto, Edgar A ⁱ   Liu, Yangfan ^j   Davis, Erica E ^j   Hutter, Carolyn M ^b   Bammler, Theo K ^b   Farin, Frederico M ^b   Dorschner, Michael ^a   Topçu, Meral ^k   Zackai, Elaine H ^l   Rosenthal, Phillip ^m   Owens, Kelly N ^b,c   Katsanis, Nicholas ^j   Vincent, John B ⁿ   Hildebrandt, Friedhelm ⁱ   Rubel, Edwin W ^b,c   Raible, David W ^b   Knoers, Nine V A M ^d   Chance, Phillip F ^a   Roepman, Ronald ^d   Moens, Cecilia B ^o   Glass, Ian A ^a   Doherty, Dan ^a   more..

^a Seattle Children's Hospital   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

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

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^h UNIVERSITY OF MISSOURI ST LOUIS   (United States)

ⁱ UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^j JOHNS HOPKINS UNIVERSITY   (United States)

^k HACETTEPE UNIVERSITY   (Turkey)

^l UNIVERSITY OF PENNSYLVANIA   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTATHIONE; PROTEIN CEP290; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AHI1 GENE; ANIMAL CELL; ANIMAL EXPERIMENT; ARL13B GENE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CC2D2A GENE; CELL ORGANELLE; CILIOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; EYE MOVEMENT DISORDER; FAMILY; FETUS; GENE; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; KINETOSOME; LIVER FIBROSIS; MESENCEPHALON; MUSCLE HYPOTONIA; NONHUMAN; NONSENSE MUTATION; NPHP1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA DYSTROPHY; RHOMBENCEPHALON; RPGRIP1L GENE; SCHOOL CHILD; TECHNIQUE; TMEM67 GENE; YEAST TWO HYBRID METHOD; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; ANTIGENS, NEOPLASM; ATAXIA; CEREBELLUM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; CILIA; COHORT STUDIES; CONSANGUINITY; EXONS; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY DISEASES, CYSTIC; MALE; MICROSATELLITE REPEATS; MUSCLE HYPOTONIA; MUTATION; NEOPLASM PROTEINS; OCULAR MOTILITY DISORDERS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS, DNA; SYNDROME; TWO-HYBRID SYSTEM TECHNIQUES;

DANIO RERIO;

EID: 55249102622     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.10.002     Document Type: Article

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