Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Kidney International

Volumn 70, Issue 6, 2006, Pages 1155-1169

  Vylet'al, P ^a,b   Kublova M ^a,b   Kalbacova M ^a,b   Hodanova K ^a,b   Baresova V ^a,b   Stiburkova B ^b   Sikora, J ^b   Hulkova H ^b   Zivny J ^a   Majewski, J ^c   Simmonds, A ^d   Fryns, J P ^e   Venkat Raman, G ^f   Elleder, M ^b   Kmoch, S ^a,b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c MCGILL UNIVERSITY   (Canada)

^d GUY S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f QUEEN ALEXANDRA HOSPITAL   (United Kingdom)

Author keywords

Familial nephropathy; Genetic renal disease; Hyperuricemia; Tamm Horsfall protein; Uromodulin

Indexed keywords

MUTANT PROTEIN; NUCLEOTIDE; TAMM HORSFALL GLYCOPROTEIN;

ADULT; AGED; ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ELECTRON MICROSCOPY; FAMILIAL DISEASE; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INTRACELLULAR TRANSPORT; KIDNEY BIOPSY; KIDNEY PARENCHYMA; MAJOR CLINICAL STUDY; MALE; MEDULLARY SPONGE KIDNEY; MOUSE; NONHUMAN; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; UREMIA; URINARY EXCRETION; WESTERN BLOTTING;

ADOLESCENT; ADULT; BASE SEQUENCE; BASEMENT MEMBRANE; BIOPSY; CELLS, CULTURED; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; GOUT; HUMANS; HYPERURICEMIA; IMMUNOHISTOCHEMISTRY; KIDNEY; KIDNEY TUBULES; LINKAGE (GENETICS); MALE; MUCOPROTEINS; MUTATION, MISSENSE; PEDIGREE; PITUITARY GLAND; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SYNDROME; TRANSFECTION;

EID: 33748413779     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5001728     Document Type: Article

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