Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer

Human Mutation

Volumn 36, Issue 3, 2015, Pages 307-318

  Narasimhan, Vijayashankaranarayanan ^a   Hjeij, Rim ^b   Vij, Shubha ^a,g   Loges, Niki Tomas ^b   Wallmeier, Julia ^b   Koerner Rettberg, Cordula ^c   Werner, Claudius ^b   Thamilselvam, Surin Kumar ^a   Boey, Adrian ^d   Choksi, Semil P ^a   Pennekamp, Petra ^b   Roy, Sudipto ^a,e,f   Omran, Heymut ^b  

^a INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c ST JOSEF HOSPITAL   (Germany)

^d INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^g TEMASEK LIFE SCIENCES LABORATORY   (Singapore)

Author keywords

CCDC11; Dynein arms; Left right asymmetry; Motile cilia; Situs inversus; Zebrafish

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AXONEME; CCDC11 GENE; CELL MOTILITY; CELL STRUCTURE; CELL VACUOLE; EMBRYO; EUKARYOTIC FLAGELLUM; GENE; GENE FUNCTION; GENE LOSS; HUMAN; KIDNEY CELL; KINETOSOME; KUPFFER CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SITUS INVERSUS; VERTEBRAL CANAL; ZEBRA FISH; ANIMAL; ANIMAL EMBRYO; CILIARY DYSKINESIA; DISEASE MODEL; EMBRYOLOGY; GENETICS; METABOLISM; MUTATION; PATHOLOGY;

DANIO RERIO; TELEOSTEI; VERTEBRATA;

CCDC11 PROTEIN, HUMAN; CCDC11 PROTEIN, ZEBRAFISH; CYTOSKELETON PROTEIN; ZEBRAFISH PROTEIN;

ANIMALS; CILIA; CILIARY MOTILITY DISORDERS; CYTOSKELETAL PROTEINS; DISEASE MODELS, ANIMAL; EMBRYO, NONMAMMALIAN; HUMANS; MUTATION; SITUS INVERSUS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84924607356     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22738     Document Type: Article

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