Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 204-213

  Živná, Martina ^a,b   Hůlková, Helena ^b   Matignon, Marie ^c,d   Hodaňová, Kateřina ^a,b   Vylet'al, Petr ^a,b   Kalbáčová, Marie ^a,b   Barešová, Veronika ^a,b   Sikora, Jakub ^b   Blažková, Hana ^b   Živný, Jan ^a   Ivánek, Robert ^a,b   Stránecký, Viktor ^a,b   Sovová, Jana ^b   Claes, Kathleen ^e   Lerut, Evelyne ^e   Fryns, Jean Pierre ^f   Hart, P Suzanne ^g   Hart, Thomas C ^h   Adams, Jeremy N ^g   Pawtowski, Audrey ⁱ   Clemessy, Maud ^j   Gasc, Jean Marie ^j   Gübler, Marie Claire ^i,k   Antignac, Corinne ^i,k   Elleder, Milan ^a,b   Kapp, Katja ^l   Grimbert, Philippe ^c,d   Bleyer, Anthony J ^m   Kmoch, Stanislav ^a,b   more..

^a CHARLES UNIVERSITY   (Czech Republic)

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

^c HENRI MONDOR HOSPITAL   (France)

^d UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f UNIVERSITY OF LEUVEN   (Belgium)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

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

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l UNIVERSITY OF HEIDELBERG   (Germany)

^m WAKE FOREST SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ARGININE; ERYTHROPOIETIN; HEMOGLOBIN; LEUCINE; MESSENGER RNA; PREPRORENIN; PRORENIN; RENIN; SIGNAL PEPTIDE; URIC ACID; X BOX BINDING PROTEIN 1;

ADOLESCENT; ADULT; ANEMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL GROWTH; CELL VIABILITY; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; CONTROLLED STUDY; DEGLYCOSYLATION; DNA DETERMINATION; ECHOGRAPHY; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM STRESS; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERURICEMIA; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; LINKAGE ANALYSIS; MALE; NONHUMAN; ONSET AGE; PEDIGREE; PLASMA RENIN ACTIVITY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; QUANTITATIVE ANALYSIS; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; RENIN GENE; RENIN RELEASE; SCHOOL CHILD; STABLE TRANSFECTION; TRANSIENT EXPRESSION; URIC ACID BLOOD LEVEL; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGE OF ONSET; ANEMIA; CELL LINE; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; FEMALE; GENES, DOMINANT; HUMANS; HYPERURICEMIA; KIDNEY; KIDNEY FAILURE, CHRONIC; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; RENIN; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 68249127890     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.07.010     Document Type: Article

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