Associated Papers
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
A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Mustafa S et al.
Genes & Genomics, 2020
The regulatory role of the kinase-homology domain in receptor guanylyl cyclases: nothing 'pseudo' about it!
Mishra V et al.
Biochemical Society Transactions, 2018
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
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
Amano N et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
Khan S et al.
Bmc Medical Genetics, 2012
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
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