New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis

Nephrology Dialysis Transplantation

Volumn 28, Issue 7, 2013, Pages 1830-1838

  Hofstra, Julia M ^a   Lainez, Sergio ^a   Van Kuijk, Willie H M ^b   Schoots, Jeroen ^a   Baltissen, Marijke P A ^a   Hoefsloot, Lies H ^a   Knoers, Nine V A M ^a   Berden, Jo H M ^a   Bindels, René J M ^a   Van Der Vlag, Johan ^a   Hoenderop, Joost G J ^a   Wetzels, Jack F M ^a   Nijenhuis, Tom ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VIECURI MEDICAL CENTER   (Netherlands)

Author keywords

Focal segmental glomerulosclerosis; Podocyte; Proteinuria; TRPC6

Indexed keywords

ARGININE; GLYCINE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BIOTINYLATION; CELL SURFACE; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRPC6 GENE;

FOCAL SEGMENTAL GLOMERULOSCLEROSIS; PODOCYTE; PROTEINURIA; TRPC6;

ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; FOLLOW-UP STUDIES; GLOMERULAR FILTRATION RATE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NETHERLANDS; PEDIGREE; PROGNOSIS; SEQUENCE HOMOLOGY, AMINO ACID; TIME FACTORS; TRPC CATION CHANNELS;

EID: 84879099751     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs572     Document Type: Article

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