Npr2 mutant mice show vasodilation and undeveloped adipocytes in mesentery [PDF]
BMC Research Notes, 2021 Objective The biological importance for the signaling of C-type natriuretic peptide (CNP) and natriuretic peptide receptor B (NPR-B) has been recognized. However, the details remain unclear and are debatable.
Chizuru Sogawa-Fujiwara +7 more
doaj +6 more sources
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type
Frontiers in Genetics, 2022 Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism.
Jing Wu +10 more
doaj +5 more sources
Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature [PDF]
BMC PediatricsBackground The signaling pathway of C-type natriuretic peptide (CNP) and its receptor (natriuretic peptide receptor 2, NPR2) is implicated in the process of endochondral ossification, which is crucial for the linear growth of long bones. Loss-of-function
Shuoshuo Wei +9 more
doaj +6 more sources
A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type [PDF]
Italian Journal of PediatricsBackground Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short stature.
Yuehua Dong +4 more
doaj +5 more sources
Distinct submembrane localisation compartmentalises cardiac NPR1 and NPR2 signalling to cGMP [PDF]
Nature Communications, 2018 Natriuretic peptides (NPs) are important hormones that regulate cardiovascular physiology by increasing cGMP levels in cardiomyocytes. Here the authors use scanning ion conductance microscopy and a cGMP FRET sensor to identify a differential localisation
Hariharan Subramanian +5 more
doaj +8 more sources
Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5 [PDF]
Orphanet Journal of Rare DiseasesBackground Natriuretic peptide receptor 2 (NPR2) is a crucial regulator of endochondral bone growth. However, patients carrying heterozygous NPR2 gene mutations exhibit a wide range of clinical phenotypes, and evidence regarding treatment efficacy is ...
Shuoshuo Wei +7 more
doaj +3 more sources
eLife, 2017 Activating mutations in fibroblast growth factor (FGF) receptor 3 and inactivating mutations in the NPR2 guanylyl cyclase both cause severe short stature, but how these two signaling systems interact to regulate bone growth is poorly understood. Here, we
Leia C Shuhaibar +13 more
doaj +5 more sources
NPR2 gene variants in familial short stature: a single-center study [PDF]
Journal of Pediatric Endocrinology and Metabolism, 2021 Objectives NPR2 variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to Léri–Weill syndrome (LWD), and idiopathic short stature (ISS).
Ke Yuan +6 more
semanticscholar +4 more sources
Associations of Genetically Predicted NPR3 and NPR2 Perturbation and Preeclampsia Risk: A Two-Sample Mendelian Randomization Analysis. [PDF]
Int J HypertensBackground: Preeclampsia, a pregnancy complication marked by hypertension after 20 weeks of gestation, arises from placental factors that impair maternal vascular function.
Harpe R +6 more
europepmc +4 more sources
Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature
Cells, 2022 Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The NPR2 gene mutations result in acromesomelic dysplasia, Maroteaux type (AMDM), short stature with nonspecific skeletal abnormalities (SNSK), and epiphyseal ...
Qiuyue Li +9 more
doaj +4 more sources