Results 221 to 230 of about 5,736 (234)

Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux

DNA and Cell Biology, 2022
This study aims to conduct a comprehensive clinical and genetic investigation on a large family with members having various phenotypes, including acromesomelic dysplasia, type Maroteaux (AMDM), idiopathic short stature (ISS), Crouzon syndrome (CS ...
Jianjiang Zhu, Ran Meng, Huawei Zhao, L. Cai, X. Wen, W. Zeng, Yao Luo, H. Qi   +7 more
semanticscholar   +1 more source

Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data.

Journal of Clinical Endocrinology and Metabolism
CONTEXT NPR2 plays a critical role in the human growth plate. Heterozygous NPR2 variants result in varying degrees of short stature. Most individuals have no specific clinical findings and are classified as idiopathic short stature.
J. Renes, Ardine M J Reedijk, A. Hokken-Koelega, Y. Hendriks, Boudewijn Bakker, Annemieke M Boot, P. van Setten, D. C. van der Kaay, H. V. van Duyvenvoorde, R. Nievelstein, M. Losekoot, C. de Bruin   +11 more
semanticscholar   +1 more source

NPR2 and Acromesomelic Dysplasia, Type Maroteaux

2008
Abstract A signaling pathway that is active during endochondral ossi2cation, involving C-type natriuretic peptide [CNP, gene name natriuretic peptide precursor C (NPPC)] and the natriuretic peptide receptors 2 and 3 (NPR2, NPR3) is essential for normal skeletal growth.
Matthew L Warman, Robert C Olney
openaire   +1 more source

Nociceptor-specific signaling of the receptor guanylyl cyclase Npr2 contributes to acute and persistent pain.

Science Signaling
Natriuretic peptide receptor 2 (Npr2; also termed guanylyl cyclase B) is a transmembrane guanylyl cyclase that is highly abundant in nociceptors. Here, we investigated the role of production of cyclic GMP (cGMP) by Npr2 in pain processing.
Hannah Gerninghaus, Jörg Isensee, Lea Kennel, Fangyuan Zhou, Anja Kaiser, Tilman Gross, Cathrin Flauaus, Patrick Engel, Christoph Jacobs, Jonas Petersen, Wiebke Kallenborn-Gerhardt, Ruirui Lu, Katharina Metzner, Julia Adler, Peter Ruth, R. Lukowski, T. Hucho, Hannes Schmidt, A. Schmidtko   +18 more
semanticscholar   +1 more source

Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2020
Background Familial hypophosphatemic rickets, which is usually acknowledged as X-linked hypophosphatemic rickets (XLH), is a rare hereditary disease. XLH caused by mutations in the PHEX gene often manifests as growth retardation, skeletal deformities ...
Yongting Zhao, Fan Yang, Lihong Wang, Hui Che   +3 more
semanticscholar   +1 more source

NPR2 Heterozigot Mutasyonuna Bağlı Boy Kısalığı

2020
GirişNPR2 geni, C tipi natriüretik peptit bağlayan üç membran reseptöründen en yüksek afiniteye sahip olanreseptör NPR B’yi kodlar. Homozigot mutasyonları ciddi boy kısalığı ve vücut orantısızlığı olan MaroteauxTip Akromesomelik Displaziye (AMDM) neden olur.
Bideci, Aysun, Küpçü, Zekiye, Cinaz, Peyami, Perçin, Ferda Emriye, Kayhan, Gülsüm, Döğer, Esra, Çamurdan, Mahmut Orhun   +6 more
openaire   +1 more source

Suppression of Npr1, not Npr2 gene function induces hypertrophic growth in H9c2 cells in vitro

Biochemical and Biophysical Research Communications, 2017
Npr1 gene (coding for NPR-A) and Npr2 gene (coding for NPR-B) are identified as intrinsic anti-hypertrophic genes that opposes abnormal cardiac remodeling. However, the functional role of Npr1 and Npr2 genes during cardiac hypertrophic growth is not well understood.
Senthamizharasi, Manivasagam, Elangovan, Vellaichamy   +1 more
openaire   +2 more sources

Bedeutung der partikulären Guanylylcyclase Npr2 für nozizeptive Signalwege

Der Natriuretic peptide receptor 2 (Npr2) ist eine partikuläre Guanylylcyclase, die durch die Bindung des Neuropeptids C-type natriuretic peptide (CNP) die zytosolische Bildung des cyclischen Guanosinmonophosphats (cGMP) katalysiert. Während die Funktionen von Npr2 hinsichtlich der embryonalen Axonbifurkation, der postpartalen Ossifikation und der ...
openaire   +1 more source

A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.

Genetic counseling (Geneva, Switzerland), 2015
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton.
Yakut, T., Gulten, T., Sahinturk, SERDAR, Ture, M., Gorukmez, O., Topak, A., Gorukmez, O., Sag, S. Ozemri   +7 more
openaire   +2 more sources

A Novel NPR2 Mutation in Two Turkish Siblings with Acromesomelic Dysplasia Maroteaux Type

2020
Acromesomelic Dysplasia Maroteaux type (AMDM) which belongs to the group of acromesomelic dysplasias is an extremely rare skeletal disorder described by severe shortening of the forelimbs and disproportionate short stature. AMDM is an autosomal recessive genetic disorder with a prevalence of 1/1,000,000.
Adanur, Kübra, Yüce Kahraman, Çiğdem, Yakar, Ömer, Tatar, Abdulgani, Ercoşkun, Pelin, Cinkara, Neslihan   +5 more
openaire   +1 more source