Loss-of-function mutations in WDR73 Are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-mowat syndrome

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 637-648

  Colin, Estelle ^a,b   Huynh Cong, Evelyne ^c,d   Mollet, Géraldine ^c,d   Guichet, Agnès ^a   Gribouval, Olivier ^c,d   Arrondel, Christelle ^c,d   Boyer, Olivia ^c,d,e   Daniel, Laurent ^f   Gubler, Marie Claire ^c,d,e   Ekinci, Zelal ^g   Tsimaratos, Michel ^f   Chabrol, Brigitte ^f   Boddaert, Nathalie ^d,e   Verloes, Alain ^h   Chevrollier, Arnaud ^a,b   Gueguen, Naig ^a,b   Desquiret Dumas, Valérie ^a,b   Ferré, Marc ^a,b   Procaccio, Vincent ^a,b   Richard, Laurence ⁱ   Funalot, Benoit ⁱ   Moncla, Anne ^f   Bonneau, Dominique ^a,b   Antignac, Corinne ^c,d,e   more..

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b La Chantrerie   (France)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f TIMONE HOSPITAL   (France)

^g KOCAELI UNIVERSITY   (Turkey)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; MESSENGER RNA; PROTEIN WDR73; SYNAPTOPODIN; UNCLASSIFIED DRUG; PROTEIN; WDR73 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; ASTRAL MICROTUBULE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL PROLIFERATION; CELL SURVIVAL; CELL VIABILITY; CELLULAR DISTRIBUTION; CHILD; CONGENITAL NEPHROTIC SYNDROME; CYTOPLASM; EMBRYO; EXOME; FEMALE; FRAMESHIFT MUTATION; GALLOWAY MOWAT SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; INTERPHASE; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MICROTUBULE; MICROTUBULE ASSEMBLY; MITOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PODOCYTE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SPINDLE POLE; BRAIN; CELL LINE; CHEMICAL STRUCTURE; CYTOSOL; GENETICS; GLOMERULUS; HIATUS HERNIA; HOMOZYGOTE; METABOLISM; MUTATION; NEPHROSIS; NEPHROTIC SYNDROME; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROTEIN TRANSPORT;

ADOLESCENT; BRAIN; CELL LINE; CELL SURVIVAL; CHILD; CHILD, PRESCHOOL; CYTOSOL; EXOME; HERNIA, HIATAL; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; KIDNEY GLOMERULUS; MALE; MICROCEPHALY; MICROTUBULES; MITOSIS; MODELS, MOLECULAR; MUTATION; NEPHROSIS; NEPHROTIC SYNDROME; PODOCYTES; PROTEIN TRANSPORT; PROTEINS; SPINDLE POLES;

EID: 84919642714     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.011     Document Type: Article

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