Associated Papers
A new family with epiphyseal chondrodysplasia type Miura.
Kenis V et al.
American Journal of Medical Genetics. Part A, 2021
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
Lauffer P et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP.
Dickey DM et al.
The Journal of Biological Chemistry, 2017
Role of the natriuretic peptide system in normal growth and growth disorders.
Vasques GA et al.
Hormone Research in Paediatrics, 2014
An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.
Hannema SE et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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