An overgrowth disorder associated with excessive production of cgmp due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Miura, Kohji ^a   Namba, Noriyuki ^a   Fujiwara, Makoto ^a   Ohata, Yasuhisa ^a   Ishida, Hidekazu ^a   Kitaoka, Taichi ^a   Kubota, Takuo ^a   Hirai, Haruhiko ^a   Higuchi, Chikahisa ^a   Tsumaki, Noriyuki ^b   Yoshikawa, Hideki ^a   Sakai, Norio ^a   Michigami, Toshimi ^c   Ozono, Keiichi ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIC GMP; LIGAND; METHIONINE; NATRIURETIC PEPTIDE RECEPTOR 2; RECEPTOR PROTEIN; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY BUILD; BONE GROWTH; CARTILAGE CELL; COL11A2 GENE; CONTROLLED STUDY; CYCLIC GMP BLOOD LEVEL; ENHANCER REGION; FAMILY STUDY; FEMALE; FOOT DISEASE; GENE; GENE FUNCTION; GENETIC TRANSFECTION; GROWTH DISORDER; GROWTH PLATE; HETEROZYGOTE; HUMAN; INTRON; LEG LENGTHENING; MACRODACTYLY; MALE; MISSENSE MUTATION; MOUSE; NATRIURETIC PEPTIDE RECEPTOR 2 GENE; NONHUMAN; NUCLEOTIDE METABOLISM; OVERGROWTH DISORDER; PHENOTYPE; PROMOTER REGION; PROTEIN BLOOD LEVEL; SCOLIOSIS; TRANSGENIC MOUSE; WILD TYPE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMALS; CHONDROCYTES; CYCLIC GMP; DNA, COMPLEMENTARY; FINGERS; GENE EXPRESSION; GROWTH DISORDERS; HEK293 CELLS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; RECEPTORS, ATRIAL NATRIURETIC FACTOR;

MUS; MUS MUSCULUS;

EID: 84864538879     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042180     Document Type: Article

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