Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

Human Mutation

Volumn 28, Issue 7, 2007, Pages 724-731

  Bocciardi, Renata ^a   Giorda, Roberto ^b   Buttgereit, Jens ^c,d   Gimelli, Stefania ^e   Divizia, Maria Teresa ^a   Beri, Silvana ^b   Garofalo, Silvio ^f,g   Tavella, Sara ^g,h   Lerone, Margherita ^a   Zuffardi, Orsetta ^e   Bader, Michael ^d   Ravazzolo, Roberto ^a,g   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c HUMBOLDT UNIVERSITY   (Germany)

^d MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY OF MOLISE   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

^h UNIVERSITY OF GENOA   (Italy)

Author keywords

Balanced translocation; Bone anomalies; COL1A2; DIS3L2; Marfanoid habitus; MGC42174; NPPC

Indexed keywords

BETA ACTIN; COLLAGEN; COMPLEMENTARY DNA; MESSENGER RNA; NATRIURETIC PEPTIDE TYPE C;

ADOLESCENT; ARTICLE; BODY BUILD; BONE MALFORMATION; CASE REPORT; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; GENE OVEREXPRESSION; HUMAN; MARFAN SYNDROME; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOIMMUNOASSAY; SKELETON; TRANSGENE; TRANSGENIC MOUSE;

ADOLESCENT; ANIMALS; BASE SEQUENCE; BONE AND BONES; BONE DEVELOPMENT; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; COLLAGEN; DNA PRIMERS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MICE; MICE, TRANSGENIC; NATRIURETIC PEPTIDE, C-TYPE; TRANSLOCATION, GENETIC;

MUS MUSCULUS;

EID: 34447307159     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20511     Document Type: Article

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