Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D

Journal of Bone and Mineral Research

Volumn 17, Issue 9, 2002, Pages 1728-1737

  Nguyen, T M ^a   Adiceam, P ^b   Kottler, M L ^c   Guillozo, H ^a   Rizk Rabin, M ^a   Brouillard, F ^d   Lagier, P ^b   Palix, C ^b   Garnier, J M ^b   Garabedian, M ^a  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b CHRU Nord   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d INSERM   (France)

Author keywords

Hereditary 1,25 dihydroxyvitamin D resistant rickets; Ligand binding; Tryptophan missense mutation; Vitamin D receptor gene

Indexed keywords

CALCITRIOL; CALCITRIOL RECEPTOR; COMPLEMENTARY DNA; CYTOCHROME P450; LIGAND; MESSENGER RNA; RECOMBINANT PROTEIN; STEROID MONOOXYGENASE; TRYPTOPHAN; VITAMIN D 24 HYDROXYLASE; VITAMIN D 24-HYDROXYLASE; OXYGENASE; VITAMIN D RECEPTOR;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BINDING SITE; CASE REPORT; CELL CULTURE; CELL STRAIN COS1; DRUG EFFECT; FEMALE; GENETIC TRANSFECTION; GENETICS; GROWTH, DEVELOPMENT AND AGING; HAIR FOLLICLE; HUMAN; HYPOPHOSPHATEMIA; INFANT; MALE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; AMINO ACID SUBSTITUTION; BONE MINERALIZATION; CALCIUM HOMEOSTASIS; CELL STRAIN COS7; IMMUNOCYTOCHEMISTRY; LIGAND BINDING; NORTHERN BLOTTING; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; SKIN FIBROBLAST; TRANSACTIVATION; VITAMIN D RESISTANT RICKETS; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BINDING SITES; CALCITRIOL; CELLS, CULTURED; CHILD, PRESCHOOL; COS CELLS; CYTOCHROME P-450 ENZYME SYSTEM; DNA, COMPLEMENTARY; FEMALE; HAIR FOLLICLE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; INFANT; LIGANDS; MALE; MUTATION, MISSENSE; RECEPTORS, CALCITRIOL; RECOMBINANT PROTEINS; RNA, MESSENGER; STEROID HYDROXYLASES; TRANSFECTION; TRYPTOPHAN; ANIMAL; CASE REPORT; HUMAN; SUPPORT, NON-U.S. GOV'T;

EID: 0036708163     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2002.17.9.1728     Document Type: Article

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