Results 1 to 10 of about 4,434 (165)

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature [PDF]

BMC Pediatrics
Background The signaling pathway of C-type natriuretic peptide (CNP) and its receptor (natriuretic peptide receptor 2, NPR2) is implicated in the process of endochondral ossification, which is crucial for the linear growth of long bones. Loss-of-function
Shuoshuo Wei, Rong Li, Dongye He, Chuanpeng Zhang, Mei Zhang, Yanying Li, Shuxiong Chen, Fupeng Liu, Bo Ban, Qianqian Zhao   +9 more
doaj   +5 more sources

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH [PDF]

Orphanet Journal of Rare Diseases, 2023
Objective Heterozygous loss-of-function variants in the NPR2 gene cause short stature with nonspecific skeletal abnormalities and account for about 2 ~ 6% of idiopathic short stature.
Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin, Ruimin Chen   +8 more
doaj   +4 more sources

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type [PDF]

Italian Journal of Pediatrics
Background Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short stature.
Yuehua Dong, Shaohua Pei, Zirao Yang, Yanyan Xue, He Wang   +4 more
doaj   +3 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   +7 more sources

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type [PDF]

Frontiers in Genetics, 2022
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism.
Jing Wu, Mengru Wang, Zhouyang Jiao, Binghua Dou, Bo Li, Jianjiang Zhang, Haohao Zhang, Yue Sun, Xin Tu, Xiangdong Kong, Ying Bai   +10 more
doaj   +2 more sources

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations [PDF]

Molecular Genetics & Genomic Medicine, 2020
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
Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang   +10 more
doaj   +2 more sources

Natriuretic Peptide Receptor 2 Locus Contributes to Carotid Remodeling [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Carotid artery intima/media thickness (IMT) is a hallmark trait associated with future cardiovascular events. The goal of this study was to map new genes that regulate carotid IMT by genome‐wide association.
Vyacheslav A. Korshunov, Elaine M. Smolock, Mary E. Wines‐Samuelson, Abrar Faiyaz, Deanne M. Mickelsen, Breandan Quinn, Calvin Pan, George J. Dugbartey, Chen Yan, Marvin M. Doyley, Aldons J. Lusis, Bradford C. Berk   +11 more
doaj   +3 more sources

Npr2 mutant mice show vasodilation and undeveloped adipocytes in mesentery [PDF]

BMC Research Notes, 2021
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.
Chizuru Sogawa-Fujiwara, Yasuhiro Fujiwara, Atsuki Hanagata, Qunhui Yang, Taiki Mihara, Noriyuki Kaji, Tetsuo Kunieda, Masatoshi Hori   +7 more
doaj   +2 more sources

De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam

Molecular Genetics & Genomic Medicine, 2021
Background A heterozygous natriuretic peptide receptor 2 (NPR2) gene c.2455C>T mutation was identified as a cause of familial idiopathic short stature (ISS).
Thi Minh Thi Ha, Tran Thao Nguyen Nguyen, Thi Mai Ngan Nguyen, Huu Nguyen Nguyen   +3 more
doaj   +3 more sources

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature [PDF]

Frontiers in Cell and Developmental Biology, 2023
Introduction: Natriuretic peptide receptor 2 (NPR2 or NPR-B) plays a central role in growth development and bone morphogenesis and therefore loss-of-function variations in NPR2 gene have been reported to cause Acromesomelic Dysplasia, Maroteaux type 1 ...
Sally Badawi, Divya Saro Varghese, Anjana Raj, Anne John, Hamda S. Al-Musafir, Ahmed J. Al-Ghamari, Alreem R. Alshamsi, Sara H. Ouda, Ghayth Al-Dirbashi, Bassam R. Ali, Bassam R. Ali   +10 more
doaj   +2 more sources