| Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH. | Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
Chen H, Zhang S, Sun Y, Chen J, Yuan K, Zhang Y, Yang X, Lin X, Chen R., Free PMC Article | 08/2/2023 |
| Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux. | Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
Zhu J, Meng R, Zhao H, Cai L, Wen X, Zeng W, Luo Y, Qi H. | 11/19/2022 |
| Heterozygous NPR2 Variants in Idiopathic Short Stature. | Heterozygous NPR2 Variants in Idiopathic Short Stature.
Stavber L, Gaia MJ, Hovnik T, Jenko Bizjan B, Debeljak M, Kovač J, Omladič JŠ, Battelino T, Kotnik P, Dovč K., Free PMC Article | 09/3/2022 |
| Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature. | Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.
Li Q, Fan X, Lu W, Sun C, Pei Z, Zhang M, Ni J, Wu J, Yu FX, Luo F., Free PMC Article | 05/7/2022 |
| NPR2 gene variants in familial short stature: a single-center study. | NPR2 gene variants in familial short stature: a single-center study.
Yuan K, Chen J, Chen Q, Chen H, Zhu J, Fang Y, Wang C. | 04/2/2022 |
| Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants. | Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
Kılıç E, Çavdarlı B, Büyükyılmaz G, Kılıç M. | 01/22/2022 |
| Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH. | Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Ke X, Liang H, Miao H, Yang H, Wang L, Gong F, Pan H, Zhu H. | 09/25/2021 |
| Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. | Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K. | 09/4/2021 |
| C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature. | C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature.
Taura D, Nakao K, Nakagawa Y, Kinoshita H, Sone M, Nakao K. | 07/10/2021 |
| Low and elevated B-type natriuretic peptide levels are associated with increased mortality in patients with preserved ejection fraction undergoing transcatheter aortic valve replacement: an analysis of the PARTNER II trial and registry. | Low and elevated B-type natriuretic peptide levels are associated with increased mortality in patients with preserved ejection fraction undergoing transcatheter aortic valve replacement: an analysis of the PARTNER II trial and registry.
Chen S, Redfors B, O'Neill BP, Clavel MA, Pibarot P, Elmariah S, Nazif T, Crowley A, Ben-Yehuda O, Finn MT, Alu MC, Vahl TP, Kodali S, Leon MB, Lindman BR. | 07/3/2021 |
| A new family with epiphyseal chondrodysplasia type Miura. | A new family with epiphyseal chondrodysplasia type Miura.
Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O. | 07/3/2021 |
| A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan). | A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Mustafa S, Akhtar Z, Latif M, Hassan M, Faisal M, Iqbal F., Free PMC Article | 06/26/2021 |
| Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. | Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK, Rhie YJ, Yang S, Lee KH, Hasegawa T, Kang MJ., Free PMC Article | 04/3/2021 |
| Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. | Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
Hanley PC, Kanwar HS, Martineau C, Levine MA., Free PMC Article | 02/20/2021 |
| Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation. | Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
Zhao Y, Yang F, Wang L, Che H. | 11/28/2020 |
| NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy. | NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
Plachy L, Dusatkova P, Maratova K, Petruzelkova L, Zemkova D, Elblova L, Kucerova P, Toni L, Kolouskova S, Snajderova M, Sumnik Z, Lebl J, Pruhova S. | 11/21/2020 |
| Maroteaux-type acromesomelic dysplasia caused by NPR2 mutation has been found in a pedigree from Vietnam. | Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
Tran TH, Cao MH, Luong LH, Le PT, Vu DC, Ta TD, Bui TH, Nguyen DH, Van Ta T, Tran VK. | 08/12/2020 |
| NPR2 mRNA was down-regulated in cumulus cells surrounding mature oocytes. Further results showed that CNP signaling is downregulated in human ovarian follicles containing mature oocytes. | C-type natriuretic peptide signaling in human follicular environment and its relation with oocyte maturation.
Casalechi M, Dias JA, Pinto LV, Lobach VN, Pereira MT, Cavallo IK, Reis AM, Dela Cruz C, Reis FM. | 06/13/2020 |
| Data show that all the residues of the ATP-binding site of the are conserved in the phosphorylated pseudokinase domain (PKD) of atrial natriuretic peptide receptor type A (GC-A) and atrial natriuretic factor receptor B (GC-B). | The pseudokinase domains of guanylyl cyclase-A and -B allosterically increase the affinity of their catalytic domains for substrate.
Edmund AB, Walseth TF, Levinson NM, Potter LR., Free PMC Article | 03/21/2020 |
| Five novel variants in NPR2 were identified in unrelated patients with acromesomelic dysplasia type Maroteaux. | Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.
Ain NU, Iqbal M, Valta H, Emerling CA, Ahmed S, Makitie O, Naz S. | 01/25/2020 |
| 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. | Regulation of natriuretic peptides postprandially in vivo and of their receptors in adipocytes by fatty acids in vitro.
Schmid A, Albrecht J, Brock J, Koukou M, Arapogianni E, Schäffler A, Karrasch T. | 04/27/2019 |
| homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux | Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah, Zeb A, Shinwari N, Shah K, Gilani SZT, Khan S, Lee KW, Raza SI, Hussain S, Liaqat K, Ahmad W. | 04/20/2019 |
| 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. | Enhanced expression of natriuretic peptide receptor A and B in neutrophils of culprit lesions in patients with acute myocardial infarction.
Nakagawa M, Naruko T, Sugioka K, Kitabayashi C, Shirai N, Takagi M, Yoshiyama M, Ohsawa M, Ueda M. | 04/28/2018 |
| Atenolol treatment normalized the altered expression of Npr1 and Npr2 genes. | Differential expression and regulation of anti-hypertrophic genes Npr1 and Npr2 during β-adrenergic receptor activation-induced hypertrophic growth in rats.
Manivasagam S, Subramanian V, Tumala A, Vellaichamy E. | 11/4/2017 |
| 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) | Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP.
Dickey DM, Otto NM, Potter LR., Free PMC Article | 07/8/2017 |