Medicine: A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

Science

Volumn 308, Issue 5729, 2005, Pages 1801-1804

  Winn, Michelle P ^a   Conlon, Peter J ^b   Lynn, Kelvin L ^a,c   Farrington, Merry Kay ^a   Creazzo, Tony ^a   Hawkins, April F ^a   Daskalakis, Nikki ^a   Kwan, Shu Ying ^a   Ebersviller, Seth ^a   Burchette, James L ^a,c   Pericak Vance, Margaret A ^a   Howell, David N ^a,c   Vance, Jeffery M ^a   Rosenberg, Paul B ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b BEAUMONT HOSPITAL   (Ireland)

^c CHRISTCHURCH HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOMES; DIAGNOSIS; DIALYSIS; MUTAGENESIS; POSITIVE IONS; PROTEINS;

FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS (FSCS); PATHOGENESIS; STRUCTURAL PROTEINS; TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL 6 (TRPC6);

DISEASE CONTROL;

ANGIOTENSIN; CATION CHANNEL; GLUTAMINE; ION CHANNEL; PROLINE; TRANSIENT RECEPTOR POTENTIAL CHANNEL; ANGIOTENSIN 1 RECEPTOR; ANGIOTENSIN II; CALCIUM; CALCIUM CHANNEL; CARBACHOL; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; SODIUM; TRANSIENT RECEPTOR POTENTIAL CHANNEL C; TRPC6 PROTEIN, HUMAN; URIDINE TRIPHOSPHATE;

MEDICINE;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM SIGNALING; CHROMOSOME 11Q; CYTOSKELETON; DIALYSIS; FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENETIC DISORDER; HUMAN; KIDNEY DISEASE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEINURIA; CELL LINE; CELL MEMBRANE; CHEMISTRY; CHROMOSOME 11; DNA SEQUENCE; EXON; FEMALE; GENETIC TRANSFECTION; GENETICS; GLOMERULUS; HAPLOTYPE; KIDNEY; KIDNEY TUBULE; MALE; METABOLISM; PATCH CLAMP; PEDIGREE;

AMINO ACID SUBSTITUTION; ANGIOTENSIN II; CALCIUM; CALCIUM CHANNELS; CALCIUM SIGNALING; CARBACHOL; CELL LINE; CELL MEMBRANE; CHROMOSOMES, HUMAN, PAIR 11; EXONS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; GTP-BINDING PROTEIN ALPHA SUBUNITS, GQ-G11; HAPLOTYPES; HUMANS; KIDNEY; KIDNEY GLOMERULUS; KIDNEY TUBULES; MALE; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PEDIGREE; RECEPTOR, ANGIOTENSIN, TYPE 1; SEQUENCE ANALYSIS, DNA; SODIUM; TRANSFECTION; TRPC CATION CHANNELS; URIDINE TRIPHOSPHATE;

EID: 20844461826     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1106215     Document Type: Article

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25. We thank the members of the family described here, the Center for Human Genetics core facilities for assistance, J. Burch for technical assistance, and R. S. Williams for helpful discussions. Supported in part by grants from NIH.