Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

PLoS Genetics

Volumn 12, Issue 3, 2016, Pages

  Grampa, Valentina ^a,b   Delous, Marion ^a,b   Zaidan, Mohamad ^c   Odye, Gweltas ^a,b   Thomas, Sophie ^b,d   Elkhartoufi, Nadia ^a,b,d   Filhol, Emilie ^a,b   Niel, Olivier ^a,b,e   Silbermann, Flora ^a,b   Lebreton, Corinne ^b,d   Collardeau Frachon, Sophie ^f   Rouvet, Isabelle ^f   Alessandri, Jean Luc ^g   Devisme, Louise ^h   Dieux Coeslier, Anne ^h   Cordier, Marie Pierre ⁱ   Capri, Yline ^e   Khung Savatovsky, Suonavy ^e   Sigaudy, Sabine ^j   Salomon, Rémi ^a,b   Antignac, Corinne ^a,b   Gubler, Marie Claire ^a,b   Benmerah, Alexandre ^a,b   Terzi, Fabiola ^c   Attié Bitach, Tania ^a,b,d   Jeanpierre, Cécile ^a,b   Saunier, Sophie ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b University Sorbonne Paris Cite   (France)

^c INSTITUT NECKER ENFANTS MALADES   (France)

^d INSERM   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g CHU de La Réunion Saint Denis Saint Pierre   (France)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITÉ LYON 1   (France)

^j TIMONE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NEK8 PROTEIN; PROTEIN SERINE THREONINE KINASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VERTEPORFIN; YAP PROTEIN; NEK8 PROTEIN, HUMAN; NIMA RELATED KINASE; PHOSPHOPROTEIN; PORPHYRIN; PROTEIN KINASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; YAP1 (YES-ASSOCIATED) PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AXONEME; BILE DUCT MALFORMATION; BIOGENESIS; CARDIOMEGALY; CELL CYCLE REGULATION; CELL DIFFERENTIATION; CELL PROLIFERATION; CILIOGENESIS; CONTROLLED STUDY; EMBRYO; EPITHELIZATION; EXOME; FEMALE; FETUS; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HIGH THROUGHPUT SEQUENCING; HIPPO PATHWAY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY CELL; KIDNEY CYST; KIDNEY DYSPLASIA; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUSE; NEK8 GENE; NEWBORN; NONHUMAN; NONSENSE MUTATION; RENAL CYSTIC DYSPLASIA; SIGNAL TRANSDUCTION; SITUS INVERSUS; ZEBRA FISH; ANIMAL; ANTAGONISTS AND INHIBITORS; BIOSYNTHESIS; CILIUM; GENETIC ASSOCIATION STUDY; GENETICS; KIDNEY; KIDNEY POLYCYSTIC DISEASE; METABOLISM; MORPHOGENESIS; MUTATION; PATHOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; CELL DIFFERENTIATION; CILIA; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KIDNEY; MICE; MORPHOGENESIS; MUTATION; NIMA-RELATED KINASES; PHOSPHOPROTEINS; POLYCYSTIC KIDNEY DISEASES; PORPHYRINS; PROTEIN KINASES; SIGNAL TRANSDUCTION; ZEBRAFISH;

EID: 84962376887     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005894     Document Type: Article

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