Heterozygous NPR2 Variants in Idiopathic Short Stature
Genes, 2022 Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS).
Lana Stavber +9 more
semanticscholar +3 more sources
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
doaj +2 more sources
Association Between Natriuretic Peptide Receptor 2 (NPR2) RS208158047 Polymorphism and Fattening Performance of Young Bulls [PDF]
, 2021 The objective of this study was to determine fattening performance data for Charolais, Limousin and Blonde d’Aquitaine beef cattle and associate these data with NPR2 gene 8:g.59961937 T>C (rs208158047) mutation.
Jale METİN KIYICI +2 more
openalex +2 more sources
The Loss of Lam2 and Npr2-Npr3 Diminishes the Vacuolar Localization of Gtr1-Gtr2 and Disinhibits TORC1 Activity in Fission Yeast. [PDF]
PLoS ONE, 2016 In mammalian cells, mTORC1 activity is regulated by Rag GTPases. It is thought that the Ragulator complex and the GATOR (GAP activity towards Rags) complex regulate RagA/B as its GDP/GTP exchange factor (GEF) and GTPase-activating protein (GAP ...
Ning Ma +4 more
doaj +3 more sources
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
The Journal of Clinical Endocrinology & Metabolism, 2020 BACKGROUND NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may ...
Patrick C Hanley +3 more
semanticscholar +5 more sources
A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. [PDF]
PLoS Genetics, 2009 TORC1 is a central regulator of cell growth in response to amino acid availability, yet little is known about how it is regulated. Here, we performed a reverse genetic screen in yeast for genes necessary to inactivate TORC1.
Taavi K Neklesa, Ronald W Davis
doaj +3 more sources
Cell Death and Disease, 2021 Sphingosine phosphate lyase 1 (SGPL1) is a highly conserved enzyme that irreversibly degrades sphingosine-1-phosphate (S1P). Sgpl1-knockout mice fail to develop germ cells, resulting in infertility. However, the molecular mechanism remains unclear.
Feifei Yuan +9 more
doaj +2 more sources
C‐type natriuretic peptide promotes human granulosa cell growth and estradiol production: Implications for early follicle development [PDF]
Reproductive Medicine and BiologyPurpose To investigate the effects of C‐type natriuretic peptide (CNP) on human granulosa cell growth and elucidate its regulatory mechanisms. Methods A human non‐luteinizing granulosa cell line (HGrC) developed from small antral follicles was used to ...
Yorino Sato, Kazuhiro Kawamura
doaj +2 more sources
Funktionen der partikulären Guanylatzyklase NPR2 in der Schmerzverarbeitung [PDF]
, 2021 Viele Studien konnten nachweisen, dass die Produktion von cGMP eine entscheidende Funktion im nozizeptiven System einnimmt. Hierbei wurde vor allem die cGMP-Produktion über lösliche Guanylatzyklasen untersucht. Welche Rolle die partikulären Guanlyatzyklasen bei der Entstehung von Schmerzen haben ist weitgehend ungeklärt.
Lea Kennel
openalex +4 more sources
Defective development and microcirculation of intestine in Npr2 mutant mice [PDF]
Scientific Reports, 2020 Intractable gastrointestinal (GI) diseases often develop during infancy. Our group previously reported that natriuretic peptide receptor B (NPR-B)-deficient Npr2slw/slw mice exhibit severe intestinal dysfunction, such as stenosis and distention, which ...
Chizuru Sogawa-Fujiwara +7 more
semanticscholar +3 more sources