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It was the aim to investigate the expression of natriuretic peptide receptors NPR-A, NPR-B and NPR-C during adipocyte differentiation (AD), upon stimulation with fatty acids (FA), and in murine and human adipose tissue depots.
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homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux
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These results of the distinct presence of NPRA and NPRBpositive cells in unstable plaques underlying acute myocardial infarction suggested that natriuretic peptides serve a role in regulating plaque instability in humans.
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Atenolol treatment normalized the altered expression of Npr1 and Npr2 genes.
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Data suggest mutations in NPR2 in patients with skeletal overgrowth alter conformation: A488P/R655C missense mutations yield conformation mimicking allosterically activated NPR2; A488P mutation sets phosphorylation as requirement for CNP-dependent activation; R655C mutation abrogates need for phosphorylation; ATP analog inhibits mutants. (NPR2 = atrial natriuretic factor receptor B; CNP = C-type natriuretic peptide)
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in 4 Indian families with acromesomelic dysplasia, type Maroteaux, 4 homozygous mutations in four different families were identified; these include 3 novel mutations including a deletion frameshift mutation (p.Cys586Ter), one nonsense mutation (p.Arg479Ter), one missense mutation (p.Val187Asp) and one reported missense mutation (p.Tyr338Cys)
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Heterozygous mutation in NPR2 gene is associated with short stature.
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Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia
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IL1R2 hypomethylation and androgen receptor hypermethylation may constitute an important determinant of disease severity, whereas NPR2 hypomethylation and SP140 hypermethylation may provide a biomarker for vulnerability to excessive daytime sleepiness in Obstructive Sleep Apnea
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Loss-of-function mutations of the NPR2 gene is associated with acromesomelic dysplasia, type maroteaux.
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Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
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NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified.
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3 consanguineous families segregating Acromesomelic dysplasia Maroteaux type in an autosomal recessive manner studied. Linkage in the families was established to the NPR2 gene on chromosome 9p12-21. Sequence analysis revealed 2 novel missense variants (p.Arg601Ser; p.Arg749Trp) in 2 families and a previously reported splice site variant (c.2986+2T>G) in the third family.
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Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator.
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Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
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Gene expression of C-type natriuretic peptide and of its specific receptor NPR-B in human leukocytes of healthy and heart failure subjects
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Molecular dynamics analysis indicated decreases in the values of Van der Waals, electrostatic energy and potential energy of NPRB/Vasonatrin peptide compared to NPRA/Vasonatrin peptide.
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Identification of heterozygous dominant negative NPR2 mutations in 2% of Japanese patients with short stature.
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KIdney NPR2 protein quantity is significantly impacted by genetic variation.
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study concludes V883M mutation increases maximal velocity in absence of C-type natriuretic peptide (CNP), eliminates requirement for ATP in the CNP-dependent Km reduction and disrupts normal inactivation process; established a molecular mechanism for how an amino acid substitution in GC-B activates the enzyme, which results in abnormally long and fragile bones
