Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

American Journal of Human Genetics

Volumn 97, Issue 4, 2015, Pages 546-554

  Olbrich, Heike ^a   Cremers, Carolin ^a   Loges, Niki T ^a   Werner, Claudius ^a   Nielsen, Kim G ^b   Marthin, June K ^b   Philipsen, Maria ^b   Wallmeier, Julia ^a   Pennekamp, Petra ^a   Menchen, Tabea ^a   Edelbusch, Christine ^a   Dougherty, Gerard W ^a   Schwartz, Oliver ^a   Thiele, Holger ^c   Altmüller, Janine ^c,d   Rommelmann, Frank ^e   Omran, Heymut ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e Pulmonary Specialist Practice   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; PROTEASE NEXIN; CYTOSKELETON PROTEIN; GAS8 PROTEIN, HUMAN; LNK PROTEIN, MOUSE; MULTIPROTEIN COMPLEX; NITRIC OXIDE; SIGNAL PEPTIDE; TUMOR PROTEIN;

ADULT; ANIMAL TISSUE; ARTICLE; CASE REPORT; CHILD; CILIARY DYSKINESIA; CONTROLLED STUDY; EMBRYO; EXOME; FEMALE; GAS8 GENE; GENE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IMMUNOFLUORESCENCE MICROSCOPY; LOSS OF FUNCTION MUTATION; LUNG ALVEOLUS CELL; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRANSMISSION ELECTRON MICROSCOPY; VIDEO MICROSCOPY; YOUNG ADULT; ANIMAL; ANTAGONISTS AND INHIBITORS; CYTOLOGY; EUKARYOTIC FLAGELLUM; FLUORESCENCE MICROSCOPY; GENETICS; KARTAGENER SYNDROME; KNOCKOUT MOUSE; METABOLISM; MUTATION; NOSE MUCOSA; PATHOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; PROGNOSIS; RESPIRATORY SYSTEM; WESTERN BLOTTING;

ADULT; ANIMALS; BLOTTING, WESTERN; CHILD; CILIA; CYTOSKELETAL PROTEINS; DYNEINS; EXOME; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KARTAGENER SYNDROME; MALE; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MICROSCOPY, FLUORESCENCE; MULTIPROTEIN COMPLEXES; MUTATION; NASAL MUCOSA; NEOPLASM PROTEINS; NITRIC OXIDE; PEDIGREE; PHENOTYPE; PROGNOSIS; PROTEASE NEXINS; RESPIRATORY SYSTEM; YOUNG ADULT;

EID: 84952720501     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.012     Document Type: Article

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