Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Human Molecular Genetics

Volumn 12, Issue 24, 2003, Pages 3369-3384

  Rampoldi, Luca ^a   Caridi, Gianluca ^b   Santon, Daniela ^c   Boaretto, Francesca ^c   Bernascone, Ilenia ^a   Lamorte, Giuseppe ^a   Tardanico, Regina ^d   Dagnino, Monica ^b   Colussi, Giacomo ^e   Scolari, Francesco ^d   Ghiggeri, Gian Marco ^b   Amoroso, Antonio ^c   Casari, Giorgio ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c Genetics Service   (Italy)

^d UNIVERSITY OF BRESCIA   (Italy)

^e OSPEDALE DI CIRCOLO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; TAMM HORSFALL GLYCOPROTEIN;

ADOLESCENT; ADULT; AGED; ALLELISM; ARTICLE; CELL MEMBRANE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYST; DISEASE ASSOCIATION; DYNAMICS; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; EXPERIMENTAL DESIGN; FAMILY; FLUID RETENTION; FLUORESCENCE ACTIVATED CELL SORTING; GENETIC TRANSFECTION; GLOMERULUS; HENLE LOOP; HUMAN; HUMAN CELL; HYPERURICEMIA; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SPACE; KIDNEY BIOPSY; KIDNEY CONCENTRATING CAPACITY; KIDNEY DISEASE; KIDNEY TUBULE EPITHELIUM; MEDULLARY SPONGE KIDNEY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN TRANSPORT; REDUCTION; URINALYSIS; URINARY EXCRETION;

ALLELES; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; FEMALE; HUMANS; HYPERURICEMIA; KIDNEY; KIDNEY DISEASES; KIDNEY FAILURE, CHRONIC; MALE; MOLECULAR SEQUENCE DATA; MUCOPROTEINS; MUTATION, MISSENSE; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

GLOMERULUS;

EID: 0346752171     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg353     Document Type: Article

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