Results 41 to 50 of about 5,736 (234)

Cutis Verticis Gyrata due to a novel NPR2 variant.

QJM: An International Journal of Medicine, 2023
J. McKenna, P. Morrison
semanticscholar   +5 more sources

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature. [PDF]

Am J Hum Genet
Jeong R, Covarrubias S, Shanghavi D, Ruhrmund D, Estrada K, Zhou D, Marom N, Bauer CR, Froelich S.   +8 more
europepmc   +2 more sources

NPR2 wt Allele [PDF]

, 2020
National Cancer Institute
openalex   +2 more sources

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the NRP2 Gene

Travmatologiâ i Ortopediâ Rossii, 2020
Relevance. Acromezomelic dysplasia Maroteaux type (AMDM) is a rare variant of autosomal recessive skeletal disorder. The disease is caused by mutations in the NPR2 gene, coding the protein product which is one of the main regulators of endochondral ...
T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, E. L. Dadali   +6 more
doaj   +2 more sources

Identification of congenital aortic valve malformations in juvenile natriuretic peptide receptor 2-deficient mice using high-frequency ultrasound.

Am J Physiol Heart Circ Physiol
Mouse models of congenital aortic valve malformations are useful for studying disease pathobiology, but most models have incomplete penetrance (e.g., ~2 to 77% prevalence of bicuspid aortic valves (BAVs) across multiple models).
Guruji V, Zhou YQ, Tang M, Mirzaei Z, Ding Y, Elbatarny M, Latifi N, Simmons CA.   +7 more
europepmc   +2 more sources

Regulation of the Natriuretic Peptide Receptor 2 (Npr2) by Phosphorylation of Juxtamembrane Serine and Threonine Residues Is Essential for Bifurcation of Sensory Axons [PDF]

Journal of Neuroscience, 2018
cGMP signaling elicited by activation of the transmembrane receptor guanylyl cyclase Npr2 (also known as guanylyl cyclase B) by the ligand CNP controls sensory axon bifurcation of DRG and cranial sensory ganglion (CSG) neurons entering the spinal cord or
Hannes Schmidt, Deborah M. Dickey, Alexandre Dumoulin, Marie Octave, Jerid W. Robinson, Ralf Kühn, Robert Feil, Lincoln R. Potter, Fritz G. Rathjen   +8 more
openalex   +2 more sources

eP115: Two novel NPR2 variants in a patient with acromesomelic dysplasia - Maroteaux type [PDF]

Genetics in Medicine, 2022
Leslie Dunnington, Emilyn Banfield, Jacqueline T. Hecht, Paul Hillman   +3 more
openalex   +2 more sources

Dephosphorylation of juxtamembrane serines and threonines of the NPR2 guanylyl cyclase regulates oocyte meiotic resumption [PDF]

, 2015
Leia C. Shuhaibar, Aaron B. Edmund, Jeremy R. Egbert, Siu‐Pok Yee, Lincoln R. Potter, Laurinda A. Jaffe   +5 more
core   +3 more sources

Short-Limbed Dwarfism: slw Is a New Allele of Npr2 Causing Chondrodysplasia [PDF]

Journal of Heredity, 2007
Short-limbed dwarfism (SLW) is a new mutant mouse characterized by a dwarf phenotype with markedly short body, limbs, and tail. In the present study, we investigated the skeletal phenotypes of the SLW mouse and determined the chromosomal localization to identify the gene responsible for the phenotypes (slw).
Chiharu Sogawa, Tetsuya Tsuji, Y. Shinkai, Kentaro Katayama, Tetsuo Kunieda   +4 more
openalex   +3 more sources

Epitope-tagged and phosphomimetic mouse models for investigating natriuretic peptide-stimulated receptor guanylyl cyclases

Frontiers in Molecular Neuroscience, 2022
The natriuretic peptide receptors NPR1 and NPR2, also known as guanylyl cyclase A and guanylyl cyclase B, have critical functions in many signaling pathways, but much remains unknown about their localization and function in vivo. To facilitate studies of
Jeremy R. Egbert, Tracy F. Uliasz, Katie M. Lowther, Katie M. Lowther, Deborah Kaback, Deborah Kaback, Brandon M. Wagner, Chastity L. Healy, Timothy D. O’Connell, Lincoln R. Potter, Lincoln R. Potter, Laurinda A. Jaffe, Siu-Pok Yee, Siu-Pok Yee   +13 more
doaj   +1 more source