ArticleThe Journal of clinical endocrinology and metabolism2007
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
Article in The Journal of clinical endocrinology and metabolism, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 81 citations in OpenAlex.
- Trial
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.American journal of human genetics · 2026Article
- Cellular and genetic mechanisms that shape the development and evolution of tail vertebral proportion in mice and jerboas.Nature communications · 2025Article
- Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.BMC pediatrics · 2025Article
- Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.Orphanet journal of rare diseases · 2023Article
- Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.Frontiers in cell and developmental biology · 2023Article
- Guanylyl Cyclase-B Dependent Bone Formation in Mice is Associated with Youth, Increased Osteoblasts, and Decreased Osteoclasts.Calcified tissue international · 2022Article
- Article
- Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.Journal of human genetics · 2021Article
- Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism.JCI insight · 2021Article
- Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.The Journal of clinical endocrinology and metabolism · 2020Observational
- A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).Genes & genomics · 2020Article
- Cellular Heterogeneity of the Luteinizing Hormone Receptor and Its Significance for Cyclic GMP Signaling in Mouse Preovulatory Follicles.Endocrinology · 2020Article
- Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.Molecular genetics & genomic medicine · 2020Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
- Is C-type natriuretic peptide regulated by a feedback loop? A study on systemic and local autoregulatory effect.PloS one · 2020Article
- Exogenous C-type natriuretic peptide therapy for impaired skeletal growth in a murine model of glucocorticoid treatment.Scientific reports · 2019Article
- Genetic regulation of linear growth.Annals of pediatric endocrinology & metabolism · 2019Article
- Regulation of the Natriuretic Peptide Receptor 2 (Npr2) by Phosphorylation of Juxtamembrane Serine and Threonine Residues Is Essential for Bifurcation of Sensory Axons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Rats deficient C-type natriuretic peptide suffer from impaired skeletal growth without early death.PloS one · 2018Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextNatriuretic peptide receptor-B (NPR-B, GC-B in rodents; gene name NPR2) is a guanylyl cyclase-coupled receptor that mediates the effect of C-type natriuretic peptide. Homozygous mutations in human NPR-B cause acromesomelic dysplasia, type Maroteaux (OMIM 602875), an autosomal recessive skeletal dysplasia. NPR-B has an intracellular kinase homology domain (KHD), which has no kinase activity, and its functional significance in vivo is currently unknown.
objectiveWe examined the functional significance of a novel NPR-B KHD mutation in humans. PATIENTS AND
methodsA 28-yr-old Japanese male presented with marked short stature (118.5 cm, -9.3 sd). His limbs showed marked shortening in the middle and distal segments. His parents had relatively short stature with height z-scores of -2.75 and -0.98 (his father and mother, respectively). Direct sequencing of coding region of the NPR2 gene of the family was performed. The mutant receptor activity was investigated by saturation binding assay and cGMP measurement. Additionally, interaction between the mutant and wild type allele was investigated by the titration experiments.
resultsWe identified a novel missense mutation L658F in KHD of NPR-B in homozygous and heterozygous states in the patient and his parents, respectively. The mutation conferred normal binding affinity for C-type natriuretic peptide but no discernible ligand-induced cGMP production. Furthermore, L658F mutant impaired wild-type NPR-B-mediated cGMP production in a dose-dependent manner, suggesting that short stature found in L658F heterozygote can be caused by its dominant-negative effect.
conclusionsThis study provides the first evidence that intact KHD of NPR-B is essential for skeletal development.
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