Results 21 to 30 of about 4,503 (200)
Radiology Case Reports, 2021 Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs.
Oliver Murch, BSc, MRes, MBBCh, PhD +2 more
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NPR2 gene variants in familial short stature: a single-center study [PDF]
Journal of Pediatric Endocrinology and Metabolism, 2021 Abstract 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
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Journal of the Formosan Medical Association, 2022 Purpose: To investigate the effects of quercetin on ovulation disorder and expression of androgen receptor (AR) and C-type natriuretic peptide (CNP) / Natriuretic Peptide Receptor 2 (NPR2) in dehydroepiandrosterone (DHEA)-induced polycystic ovary ...
Shaoyan Zheng +3 more
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Loss of Axon Bifurcation in Mesencephalic Trigeminal Neurons Impairs the Maximal Biting Force in Npr2-Deficient Mice [PDF]
Frontiers in Cellular Neuroscience, 2018 Bifurcation of axons from dorsal root ganglion (DRG) and cranial sensory ganglion (CSG) neurons is mediated by a cGMP-dependent signaling pathway composed of the ligand C-type natriuretic peptide (CNP), the receptor guanylyl cyclase Npr2 and the cGMP ...
Gohar Ter-Avetisyan +6 more
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Association of natriuretic peptides and receptor activity with cardio-metabolic health at middle age [PDF]
Scientific ReportsNatriuretic peptides (NP) have multiple actions benefitting cardiovascular and metabolic health. Although many of these are mediated by Guanylyl Cyclase (GC) receptors NPR1 and NPR2, their role and relative importance in vivo is unclear.
Timothy C. R. Prickett +2 more
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The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation
Turkiye Klinikleri Journal of Case Reports, 2020 Nadide Cemre Randa
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Hepatic Gene Expression of Angiogenic and Regeneration Markers in Cats with Congenital Portosystemic Shunts (CPSS) [PDF]
Veterinary SciencesCongenital portosystemic shunts (CPSS) are vascular anomalies resulting in liver hypoplasia and hepatic insufficiency. Cats with CPSS typically show signs of hepatic encephalopathy associated with increased ammonia, inflammatory cytokines, and oxidative ...
Michael S. Tivers +6 more
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Short-Limbed Dwarfism: slw Is a New Allele of Npr2 Causing Chondrodysplasia [PDF]
Journal of Heredity, 2007 Short-limbed dwarfism (SLW) is a new mutant mouse characterized by a dwarf phenotype with markedly short body, limbs, and tail. In the present study, we investigated the skeletal phenotypes of the SLW mouse and determined the chromosomal localization to identify the gene responsible for the phenotypes (slw).
Chiharu Sogawa +4 more
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The Journal of Clinical Endocrinology & Metabolism, 2020 Abstract Context The natriuretic peptide receptor 2 gene (NPR2) is a causative gene of idiopathic short stature (ISS) with an incidence rate of 2% to 6%. The clinical characteristics of patients with NPR2 heterozygous mutations are atypical, and data on the efficacy of recombinant human growth hormone
Xiaoan Ke +7 more
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Novel Pathogenic NPR2 Variants in Short Stature Patients and the Therapeutic Response to rhGH [PDF]
Journal of Pediatric Endocrinology and Metabolism, 2022 Abstract Objectives Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impair skeletal growth.
Hong Chen +7 more
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