A mouse with an N-ethyl-N-nitrosourea (ENU) induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Esapa, Christopher T ^a,b   Head, Rosie A ^a,b   Jeyabalan, Jeshmi ^a   Evans, Holly ^c   Hough, Tertius A ^b   Cheeseman, Michael T ^b   McNally, Eugene G ^d   Carr, Andrew J ^d   Thomas, Gethin P ^e   Brown, Matthew A ^e   Croucher, Peter I ^c,f   Brown, Steve D M ^b   Cox, Roger D ^b   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D 1ALPHA HYDROXYLASE; ALKALINE PHOSPHATASE; ARGININE; CALCITRIOL; CALCIUM; ENHANCED GREEN FLUORESCENT PROTEIN; FIBROBLAST GROWTH FACTOR 23; KLOTHO PROTEIN; OXYGENASE; PARATHYROID HORMONE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BONE TISSUE; CALCIUM BLOOD LEVEL; CHROMOSOME 2; CONTROLLED STUDY; DNA SEQUENCE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FAMILIAL DISEASE; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE LOCATION; GENE LOCUS; HYPERPHOSPHATEMIA; IN VIVO STUDY; KIDNEY HOMOGENATE; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOUSE; MUTATIONAL ANALYSIS; N ACETYL GALACTOSAMINYL TRANSFERASE 3 GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PHENOTYPIC VARIATION; PHOSPHATE METABOLISM; PROGENY; PROTEIN EXPRESSION; SERTOLI CELL; SPERMATOZOON; TRANSIENT TRANSFECTION; TUMOR CALCINOSIS; VITAMIN BLOOD LEVEL; WILD TYPE;

ANIMALS; APOPTOSIS; BLOTTING, WESTERN; BONE AND BONES; CALCINOSIS; CERCOPITHECUS AETHIOPS; COS CELLS; DISEASE MODELS, ANIMAL; ETHYLNITROSOUREA; FIBROBLAST GROWTH FACTORS; GENES, RECESSIVE; GREEN FLUORESCENT PROTEINS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPERPHOSPHATEMIA; MALE; MICE; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SERTOLI CELLS; SPERMATOZOA; TESTIS;

EID: 84865050730     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043205     Document Type: Article

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