574-586 Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting

Journal of the American Society of Nephrology

Volumn 25, Issue 3, 2014, Pages 574-586

  Ferrè, Silvia ^a   De Baaij, Jeroen H F ^a   Ferreira, Patrick ^c   Germann, Roger ^d   De Klerk, Johannis B C ^e   Lavrijsen, Marla ^a   Van Zeeland, Femke ^a   Venselaar, Hanka ^b   Kluijtmans, Leo A J ^b   Hoenderop, Joost G J ^a   Bindels, René J M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ALBERTA CHILDREN'S HOSPITAL   (Canada)

^d STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; BREAST CANCER RESISTANCE PROTEIN; C REACTIVE PROTEIN; GLYCOSYLATED HEMOGLOBIN; HEPATOCYTE NUCLEAR FACTOR 1BETA; MAGNESIUM; PCBD1 PROTEIN; PROTEIN; SODIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); FXYD2 PROTEIN, HUMAN; HNF1B PROTEIN, HUMAN; HYDROLYASE; PTERIN 4A CARBINOLAMINE DEHYDRATASE; PTERIN-4A-CARBINOLAMINE DEHYDRATASE;

ADULT; ALLELE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOSOL; DIABETES MELLITUS; FXYD2 GENE; GENE; GENE EXPRESSION; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN CELL; HYPOMAGNESEMIA; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; KIDNEY DISTAL TUBULE; LIVER FUNCTION TEST; MAGNESIUM BLOOD LEVEL; MOUSE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; UPREGULATION; WASTING SYNDROME; WILD TYPE; ADOLESCENT; ANIMAL; FEMALE; GENETICS; HEK293 CELL LINE; HYPERCALCIURIA; INFANT; KIDNEY CALCIFICATION; KIDNEY TUBULE DISORDER; MALE; METABOLISM; PHENYLKETONURIA; TRANSGENIC MOUSE; YOUNG ADULT;

ADOLESCENT; ANIMALS; DIABETES MELLITUS, TYPE 2; FEMALE; HEK293 CELLS; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; HYDRO-LYASES; HYPERCALCIURIA; INFANT; KIDNEY TUBULES, DISTAL; MAGNESIUM; MALE; MICE; MICE, TRANSGENIC; NEPHROCALCINOSIS; PHENYLKETONURIAS; RENAL TUBULAR TRANSPORT, INBORN ERRORS; SODIUM-POTASSIUM-EXCHANGING ATPASE; YOUNG ADULT;

EID: 84896816867     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013040337     Document Type: Article

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