Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 323-333

  Macia, Maxence S ^a,b   Halbritter, Jan ^c,d   Delous, Marion ^a,b   Bredrup, Cecilie ^e   Gutter, Arthur ^a,b   Filhol, Emilie ^a,b   Mellgren, Anne E C ^e,f   Leh, Sabine ^e,f   Bizet, Albane ^a,b   Braun, Daniela A ^c   Gee, Heon Y ^c   Silbermann, Flora ^a,b   Henry, Charline ^a,b   Krug, Pauline ^a,b,g   Bole Feysot, Christine ^a,b   Nitschké, Patrick ^b   Joly, Dominique ^g   Nicoud, Philippe ^h   Paget, André ^h   Haugland, Heidi ⁱ   Brackmann, Damien ^e   Ahmet, Nayir ^j   Sandford, Richard ^k   Cengiz, Nurcan ^l   Knappskog, Per M ^e,f   Boman, Helge ^e   Linghu, Bolan ^m   Yang, Fan ^m   Oakeley, Edward J ⁿ   Saint Mézard, Pierre ⁿ   Sailer, Andreas W ⁿ   Johansson, Stefan ^e,f   Rødahl, Eyvind ^e,f   Saunier, Sophie ^a,b   Hildebrandt, Friedhelm ^c   Benmerah, Alexandre ^a,b   more..

^a INSERM   (France)

^b PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f UNIVERSITY OF BERGEN   (Norway)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h Mont Blanc Hospitals   (France)

ⁱ Førde Central Hospital   (Norway)

^j ISTANBUL UNIVERSITY   (Turkey)

^k UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^l BASKENT UNIVERSITY   (Turkey)

^m NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

ⁿ NOVARTIS PHARMA AG   (Switzerland)

more..

Author keywords

ciliopathy; digenism; DNA damage; kidney; MAP kinase; MAPKBP1; mitotic spindle; nephronophthisis; retinitis pigmentosa; WDR62

Indexed keywords

BINDING PROTEIN; COMPLEMENTARY DNA; MAP KINASE BINDING PROTEIN 1; SCAFFOLD PROTEIN; STRESS ACTIVATED PROTEIN KINASE; UNCLASSIFIED DRUG; MAPKBP1 PROTEIN, HUMAN; MAPKBP1 PROTEIN, MOUSE; NERVE PROTEIN; SIGNAL PEPTIDE; WDR62 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DNA DAMAGE RESPONSE; EUKARYOTIC FLAGELLUM; EXON; FIBROBLAST; GENE FUNCTION; GENE MUTATION; GENE PRODUCT; GENE STRUCTURE; HEK293 CELL LINE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; KIDNEY FIBROSIS; LATE ONSET DISORDER; MITOSIS; MITOSIS SPINDLE; NEPHRONOPHTHISIS; NONSENSE MUTATION; PARALOGY; PLASMID; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; START CODON; STOP CODON; ADOLESCENT; ALLELE; ANIMAL; CHILD; CILIUM; CYTOLOGY; DISEASE MODEL; DNA DAMAGE; FIBROSIS; GENE EXPRESSION REGULATION; GENETICS; KIDNEY; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; KNOCKOUT MOUSE; METABOLISM; MOUSE; MUTATION; NIH 3T3 CELL LINE; PEDIGREE; PHENOTYPE; SPINDLE POLE; YOUNG ADULT; ZEBRA FISH;

ADOLESCENT; ALLELES; ANIMALS; CHILD; CILIA; DISEASE MODELS, ANIMAL; DNA DAMAGE; FIBROBLASTS; FIBROSIS; GENE EXPRESSION REGULATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MICE; MICE, KNOCKOUT; MITOSIS; MUTATION; NERVE TISSUE PROTEINS; NIH 3T3 CELLS; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION; SPINDLE POLES; YOUNG ADULT; ZEBRAFISH;

EID: 85009471278     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.12.011     Document Type: Article

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