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

We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene that encodes the CNP receptor NPR2 (natriuretic peptide receptor 2). When expressed in HEK293A cells, the mutant Npr2 cDNA generated intrace...

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Veröffentlicht in:	PloS one 2012-08, Vol.7 (8), p.e42180
Hauptverfasser:	Miura, Kohji, Namba, Noriyuki, Fujiwara, Makoto, Ohata, Yasuhisa, Ishida, Hidekazu, Kitaoka, Taichi, Kubota, Takuo, Hirai, Haruhiko, Higuchi, Chikahisa, Tsumaki, Noriyuki, Yoshikawa, Hideki, Sakai, Norio, Michigami, Toshimi, Ozono, Keiichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age Amino Acid Substitution Animals Atrial natriuretic peptide Biology Bones Cartilage Chondrocytes Chondrocytes - enzymology Chondrocytes - pathology Collagen Collagen (type XI) Comparative analysis Cyclic GMP Cyclic guanosine monophosphate DNA, Complementary Elongation Fingers & toes Fingers - abnormalities Fingers - pathology Fractures Gene Expression Genes Genetic aspects Genotype & phenotype Growth Disorders - enzymology Growth Disorders - genetics Growth Disorders - pathology Guanosine Height HEK293 Cells Humans Kinases Limb Deformities, Congenital - enzymology Limb Deformities, Congenital - genetics Limb Deformities, Congenital - pathology Male Maternal & child health Medical treatment Medicine Mice Mice, Transgenic Mutation Mutation, Missense Natriuretic peptides Orthopedics Patients Pediatrics Peptides Phenotypes Receptors, Atrial Natriuretic Factor - genetics Receptors, Atrial Natriuretic Factor - metabolism Rodents Scoliosis Therapeutics Transgenic animals Transgenic mice University graduates
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