Associated Papers
Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.
Jeong R et al.
American Journal of Human Genetics, 2026
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil G et al.
Orphanet Journal of Rare Diseases, 2021
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Ke X et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah et al.
The International Journal of Biochemistry & Cell Biology, 2018
Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.
Dickey DM et al.
The Journal of Biological Chemistry, 2016
Genetics of human isolated acromesomelic dysplasia.
Khan S et al.
European Journal of Medical Genetics, 2016
Role of the natriuretic peptide system in normal growth and growth disorders.
Vasques GA et al.
Hormone Research in Paediatrics, 2014
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
Vasques GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.
Geister KA et al.
Human Molecular Genetics, 2013
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
Hume AN et al.
Human Molecular Genetics, 2009
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
Hachiya R et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
Bartels CF et al.
American Journal of Human Genetics, 2004