Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus

Nephrology Dialysis Transplantation

Volumn 27, Issue 4, 2012, Pages 1521-1528

  Böselt, Iris ^a   Tramma, Despoina ^b   Kalamitsou, Serafia ^b   Niemeyer, Thomas ^c   Nykänen, Päivi ^d   Gräf, Klaus Jürgen ^e   Krude, Heiko ^f   Marenzi, Karen Sabrina ^g   Di Candia, Stefania ^g   Schöneberg, Torsten ^a   Schulz, Angela ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^c St Agnes Hospital Bocholt gGmbH   (Germany)

^d MIKKELI CENTRAL HOSPITAL   (Finland)

^e Endokrinologikum Berlin   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g UNIVERSITY OF MILAN   (Italy)

Author keywords

AVPR2; G protein coupled receptor; NDI; nephrogenic diabetes insipidus; V2R

Indexed keywords

CYCLIC AMP;

ADULT; ALLELE; ARGININE VASOPRESSIN RECEPTOR TYPE 2 GENE; ARTICLE; CELL STRAIN COS7; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; IN VITRO STUDY; INFANT; INTRON; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEPHROGENIC DIABETES INSIPIDUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN TRANSPORT; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COHORT STUDIES; COS CELLS; DIABETES INSIPIDUS, NEPHROGENIC; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PROGNOSIS; RECEPTORS, VASOPRESSIN; SEQUENCE DELETION;

EID: 84859362297     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfr487     Document Type: Article

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