A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS

Journal of the American Society of Nephrology

Volumn 26, Issue 4, 2015, Pages 831-843

  Hall, Gentzon ^a   Gbadegesin, Rasheed A ^a   Lavin, Peter ^c   Wu, Guanghong ^a   Liu, Yangfan ^a   Oh, Edwin C ^a   Wang, Liming ^a   Spurney, Robert F ^a   Eckel, Jason ^a   Lindsey, Thomas ^a   Homstad, Alison ^a   Malone, Andrew F ^a   Phelan, Paul J ^a   Shaw, Andrey ^b   Howell, David N ^a   Conlon, Peter J ^c   Katsanis, Nicholas ^a   Winn, Michelle P ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BEAUMONT HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NEPHRIN; SYNAPTOPODIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6; WT1 PROTEIN; ACTIN BINDING PROTEIN; SYNPO PROTEIN, HUMAN; WT1 PROTEIN, HUMAN; WT1A PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CELL ULTRASTRUCTURE; CHROMOSOME 11P; CHROMOSOME 13P; CHROMOSOME 6P; COMPUTER MODEL; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; EXOME; FAMILY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE ACTIVATION; GENE FREQUENCY; GENE SEQUENCE; GENE SILENCING; HEK293 CELL LINE; HUMAN; HUMAN CELL; KIDNEY BIOPSY; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NONHUMAN; ONSET AGE; PHENOTYPE; PODOCYTE; PRIORITY JOURNAL; PROMOTER REGION; PRONEPHROS; PROTEIN EXPRESSION; TRANSMISSION ELECTRON MICROSCOPY; TUMOR SUPPRESSOR GENE; WILD TYPE; YOUNG ADULT; ZEBRA FISH; ANIMAL; CELL MOTION; CELL SURVIVAL; DEFICIENCY; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; METABOLISM; NEPHROSIS; PHYSIOLOGY;

ADOLESCENT; ADULT; ANIMALS; CELL MOVEMENT; CELL SURVIVAL; EXOME; FEMALE; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GENETIC LINKAGE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEK293 CELLS; HUMANS; MALE; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; NEPHROSIS; PODOCYTES; SEQUENCE ANALYSIS, DNA; WT1 PROTEINS; YOUNG ADULT; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84926512101     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013101053     Document Type: Article

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