Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

American Journal of Physiology - Endocrinology and Metabolism

Volumn 295, Issue 4, 2008, Pages

  Garringer, Holly J ^a   Malekpour, Mahdi ^b   Esteghamat, Fatemehsadat ^b   Mortazavi, Seyed M J ^b   Davis, Siobhan I ^a   Farrow, Emily G ^a   Yu, Xijie ^a   Arking, Dan E ^c   Dietz, Harry C ^c   White, Kenneth E ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Fibroblast growth factor 23; Hyperphosphatemia; Klotho; Phosphate

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; GLUTAMINE; LYSINE; MUTANT PROTEIN; PHOSPHATE; PROTEINASE; CALCITRIOL; EARLY GROWTH RESPONSE FACTOR 1; EGR1 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR; MITOGEN ACTIVATED PROTEIN KINASE; N ACETYLGALACTOSAMINYLTRANSFERASE; PARATHYROID HORMONE; POLYPEPTIDE N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; BIOCHEMISTRY; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; EMBRYO; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME STABILITY; FGF23 GENE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN SECRETION; SITE DIRECTED MUTAGENESIS; TUMOR CALCINOSIS; WESTERN BLOTTING; WILD TYPE; BIOSYNTHESIS; BLOOD; CALCINOSIS; CASE REPORT; EXON; GENETICS; HYPERPHOSPHATEMIA; METABOLISM; MOLECULAR BIOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; BLOTTING, WESTERN; CALCINOSIS; CALCITRIOL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EARLY GROWTH RESPONSE PROTEIN 1; EXONS; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FIBROBLAST GROWTH FACTORS; HUMANS; HYPERPHOSPHATEMIA; MALE; MOLECULAR BIOLOGY; MUTAGENESIS, SITE-DIRECTED; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; PARATHYROID HORMONE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 56049106116     PISSN: 01931849     EISSN: 15221555     Source Type: Journal    
DOI: 10.1152/ajpendo.90456.2008     Document Type: Article

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