Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

Human Molecular Genetics

Volumn 20, Issue 2, 2011, Pages 301-311

  Michaud, Annie ^a,b   Bur, Daniel ^c   Gribouval, Olivier ^d,e   Muller, Laurent ^a,b   Iturrioz, Xavier ^a,b   Clemessy, Maud ^a,b   Gasc, Jean Marie ^a,b   Gubler, Marie Claire ^d,e   Corvol, Pierre ^a,b  

^a INSERM   (France)

^b l'alimentation et l'Environnement   (France)

^c ACTELION PHARMACEUTICALS LTD   (Switzerland)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PRORENIN; RENIN;

ARTICLE; CELL LINE; CELL MIGRATION; CELLULAR DISTRIBUTION; CHO CELL; CONTROLLED STUDY; ENZYME INACTIVATION; ENZYME RELEASE; FETUS; GENE DUPLICATION; GENETIC ASSOCIATION; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; IN VITRO STUDY; KIDNEY FUNCTION; KIDNEY TUBULE DISORDER; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR MODEL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STRUCTURE; RENAL TUBULAR DYSGENESIS;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; HUMANS; KIDNEY TUBULES, PROXIMAL; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; POINT MUTATION; PREGNANCY; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; RECOMBINANT PROTEINS; RENIN; SEQUENCE ALIGNMENT; UROGENITAL ABNORMALITIES;

EID: 78650539311     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq465     Document Type: Article

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