NPR2 Antibody

1. Atenolol treatment normalized the altered expression of Npr1 and Npr2 genes. PMID: 27283501
2. 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) PMID: 27994189
3. Heterozygous mutation in NPR2 gene is associated with short stature. PMID: 27941173
4. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia PMID: 26926249
5. 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 PMID: 26888452
6. Loss-of-function mutations of the NPR2 gene is associated with acromesomelic dysplasia, type maroteaux. PMID: 26567084
7. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature PMID: 25703509
8. 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. PMID: 26075495
9. 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. PMID: 25959430
10. Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. PMID: 24259409
11. Identification of heterozygous dominant negative NPR2 mutations in 2% of Japanese patients with short stature. PMID: 24471569
12. KIdney NPR2 protein quantity is significantly impacted by genetic variation. PMID: 23835779
13. 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 PMID: 23827346
14. In transgenic mice, complete absence of Npr2 activity prohibits the bifurcation of cranial sensory axons. PMID: 24431432
15. Although no novel phosphorylation sites that influenced the suppression of guanylate cyclase-B were identified, experiments revealed that mutations in Tyr808 markedly enhanced GC-B activity. PMID: 23586811
16. We identified heterozygous NPR2 mutations in 6% of patients initially classified as idiopathic short stature. Affected patients have mild and variable degrees of short stature without a distinct phenotype. PMID: 24001744
17. The extracellular domain of human GC-B folds independently of the remainder of the protein. PMID: 19108585
18. An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. PMID: 22870295
19. Patients with BNP on admission greater than 150/pg/ml have higher probability of death in follow up. PMID: 22633662
20. Two novel missense mutations in the gene NPR2 were identified six consanguineous families of Pakistani origin. The presence of the same mutation (p. T907M) and haplotype in five families (A, B, C, D, E) is suggestive of a founder effect. PMID: 22691581
21. NPR2 expression in normal human fetal and adult pituitaries and adenomatous pituitary tissue suggests a role for these receptors in both pituitary development and oncogenesis. PMID: 22645228
22. GC-B activity is increased in non-myocytes from failing human ventricles, possibly as a result of increased fibrosis. PMID: 22133375
23. results provide evidence for a potential causal role of the B-type natriuretic peptide system in the aetiology of type 2 diabetes PMID: 22039354
24. Data show that serum B-type natriuretic peptide strongly correlates with new-onset heart failure development at the optimal cut-off value of 175 pg/mL. PMID: 20600420
25. These studies showed the presence of NPR-A and NPR-B (mRNAs and protein) in human corneal epithelial tissue. PMID: 20664698
26. A polymorphism in natriuretic peptide receptor 2 influences the susceptibility to idiopathic dilated cardiomyopathy in a Chinese cohort. PMID: 20123316
27. Results show that VILIP-1 regulates the cell surface localization of natriuretic peptide receptor B. PMID: 20079378
28. NPR-B is highly expressed in glomeruli and proximal tubules, whereas NPR-Bi(the splice form) shows strong signals in the distal nephron PMID: 12709393
29. a marker for left ventricular dysfunction in diabetic patients. PMID: 14988324
30. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux PMID: 15146390
31. The 5' terminus of the hNPR-B gene transcript is ~732 base pairs upstream from the presumed translation start site. Its activity is dominated by a single cluster of Sp1-binding elements in the proximal 5' flanking sequence of the gene. PMID: 15262909
32. hyperosmotic and lysophosphatidic acid-dependent inhibition of NPRB is mediated by calcium-dependent phosphorylation PMID: 15371450
33. Study focus on the role of NPR-B and its ligand C-type natriuretic peptide in cardiovascular physiology and disease. PMID: 17429599
34. intact kinase homology domain of NPR-B is essential for skeletal development PMID: 17652215
35. Defective cellular trafficking of NPR-B resulted from missense mutation is associated with acromesomelic dysplasia-type Maroteaux. PMID: 18945719
36. BNP level on arrival in the intensive care unit may support early diagnosis and allow optimal management of heart failure after aortic valve replacement PMID: 19167912
37. It appears that subjects homozygous for C allele at position 381 of the BNP precursor gene promoter are more prone to develop atherosclerotic lesions in renal arteries. PMID: 19413180
38. protein structure: ligand binding domains PMID: 11556325

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HGNC: 7944

OMIM: 108961

KEGG: hsa:4882

STRING: 9606.ENSP00000341083

UniGene: Hs.78518