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1986 1
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2002 1
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2004 3
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2007 8
2008 4
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318 results

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Nppc/Npr2/cGMP signaling cascade maintains oocyte developmental capacity.
Celik O, Celik N, Ugur K, Hatirnaz S, Celik S, Muderris II, Yavuzkir S, Sahin İ, Yardim M, Aydin S. Celik O, et al. Cell Mol Biol (Noisy-le-grand). 2019 Apr 30;65(4):83-89. Cell Mol Biol (Noisy-le-grand). 2019. PMID: 31078160 Review.
While Nppc is expressed in mural cells, cumulus cells express Npr2. Nppc/Npr2 system exerts its biological function on developing follicles by increasing the production of intracellular cyclic guanosine monophosphate (cGMP). ...Disorganized chromosomes, abnormal cum …
While Nppc is expressed in mural cells, cumulus cells express Npr2. Nppc/Npr2 system exerts its biological function on develop …
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. Stavber L, et al. Genes (Basel). 2022 Jun 15;13(6):1065. doi: 10.3390/genes13061065. Genes (Basel). 2022. PMID: 35741827 Free PMC article.
A total of ten heterozygous pathogenic/likely pathogenic NPR2 variants and two heterozygous NPR2 variants of uncertain significance were detected in twelve participants (frequency of causal variants: 10/150, 6.7%). ...A clinically relevant increase in BMI (a mean ga …
A total of ten heterozygous pathogenic/likely pathogenic NPR2 variants and two heterozygous NPR2 variants of uncertain signifi …
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. Yuan K, et al. J Pediatr Endocrinol Metab. 2021 Sep 27;35(2):185-190. doi: 10.1515/jpem-2021-0332. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34565054 Free article.
However, few studies have reported on the relationship between familial short stature (FSS) and NPR2 variants. This study aimed to explore the relationship between FSS and NPR2 variants through the detection and identification of NPR2 variants in children wit …
However, few studies have reported on the relationship between familial short stature (FSS) and NPR2 variants. This study aimed to ex …
Npr2 mutant mice show vasodilation and undeveloped adipocytes in mesentery.
Sogawa-Fujiwara C, Fujiwara Y, Hanagata A, Yang Q, Mihara T, Kaji N, Kunieda T, Hori M. Sogawa-Fujiwara C, et al. BMC Res Notes. 2021 Nov 27;14(1):438. doi: 10.1186/s13104-021-05853-9. BMC Res Notes. 2021. PMID: 34838130 Free PMC article.
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. The Npr2 is a gene of NPR-B, and we previously reported a uniqu …
OBJECTIVE: The biological importance for the signaling of C-type natriuretic peptide (CNP) and natriuretic peptide receptor B (NPR-B) has be …
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. Chen H, et al. Orphanet J Rare Dis. 2023 Jul 27;18(1):221. doi: 10.1186/s13023-023-02757-8. Orphanet J Rare Dis. 2023. PMID: 37501190 Free PMC article.
This study aimed to analyze and identify pathogenic variants in the NPR2 gene and explore the therapeutic response to recombinant growth hormone (rhGH). METHODS: NPR2 was sequenced in three Chinese Han patients with short stature via exome sequencing. ...
This study aimed to analyze and identify pathogenic variants in the NPR2 gene and explore the therapeutic response to recombinant gro …
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. Li Q, et al. Cells. 2022 Apr 8;11(8):1265. doi: 10.3390/cells11081265. Cells. 2022. PMID: 35455946 Free PMC article.
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 chondrodysplasi …
Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The NPR2 gene mutations result in …
New developments in the genetic diagnosis of short stature.
Jee YH, Baron J, Nilsson O. Jee YH, et al. Curr Opin Pediatr. 2018 Aug;30(4):541-547. doi: 10.1097/MOP.0000000000000653. Curr Opin Pediatr. 2018. PMID: 29787394 Free PMC article. Review.
RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skele …
RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR …
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. Plachy L, et al. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037. doi: 10.1210/clinem/dgaa037. J Clin Endocrinol Metab. 2020. PMID: 31990356
CONTEXT: The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of the growth plate; heterozygous NPR2 variants cause short stature with possible presence of different signs of bone dysplasia. To date, the effect of growth hormone …
CONTEXT: The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of the growth plate; heterozygous …
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. Hwang IT, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1146. doi: 10.1002/mgg3.1146. Epub 2020 Jan 20. Mol Genet Genomic Med. 2020. PMID: 31960617 Free PMC article.
BACKGROUND: C-type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor-B (NPR-B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth. This study was performed …
BACKGROUND: C-type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor-B (NPR-B, NPR2), are critical for e …
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J, Wang M, Jiao Z, Dou B, Li B, Zhang J, Zhang H, Sun Y, Tu X, Kong X, Bai Y. Wu J, et al. Front Genet. 2022 Mar 16;13:823861. doi: 10.3389/fgene.2022.823861. eCollection 2022. Front Genet. 2022. PMID: 35368703 Free PMC article.
Homozygous or compound heterozygous mutations in the natriuretic peptide receptor 2 (NPR2) gene produce growth-restricted phenotypes. The current study was designed to identify and characterize NPR2 loss-of-function mutations in patients with AMDM and to explore the …
Homozygous or compound heterozygous mutations in the natriuretic peptide receptor 2 (NPR2) gene produce growth-restricted phenotypes. …
318 results