Results 21 to 30 of about 5,736 (234)

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   +4 more sources

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia [PDF]

Case Reports in Endocrinology, 2018
Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B.
Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall   +3 more
doaj   +5 more sources

Loss of Axon Bifurcation in Mesencephalic Trigeminal Neurons Impairs the Maximal Biting Force in Npr2-Deficient Mice [PDF]

Frontiers in Cellular Neuroscience, 2018
Bifurcation of axons from dorsal root ganglion (DRG) and cranial sensory ganglion (CSG) neurons is mediated by a cGMP-dependent signaling pathway composed of the ligand C-type natriuretic peptide (CNP), the receptor guanylyl cyclase Npr2 and the cGMP ...
Gohar Ter-Avetisyan, Alexandre Dumoulin, Anthony Herrel, Hannes Schmidt, Johanna Strump, Shoaib Afzal, Fritz G. Rathjen   +6 more
doaj   +3 more sources

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants

Radiology Case Reports, 2021
Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs.
Oliver Murch, BSc, MRes, MBBCh, PhD, Vani Jain, BSc, MBChB, Amaka C. Offiah, BSc, MBBS, PhD   +2 more
doaj   +3 more sources

Mutation of Npr2 leads to blurred tonotopic organization of central auditory circuits in mice. [PDF]

PLoS Genetics, 2014
Tonotopy is a fundamental organizational feature of the auditory system. Sounds are encoded by the spatial and temporal patterns of electrical activity in spiral ganglion neurons (SGNs) and are transmitted via tonotopically ordered processes from the ...
Cindy C Lu, Xiao-Jie Cao, Samantha Wright, Le Ma, Donata Oertel, Lisa V Goodrich   +5 more
doaj   +6 more sources

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2020
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.
Lukáš Plachý, Petra Dušátková, Klára Maratová, Lenka Petruželková, D Zemková, Lenka Elblová, Petra Kučerová, Ledjona Toni, Stanislava Koloušková, Marta Šnajderová, Zdenĕk Šumnı́k, Jan Lebl, Štěpánka Průhová   +12 more
semanticscholar   +4 more sources

Molecular characterization of acromesomelic dysplasia type maroteaux: A homozygous nonsense mutation in NPR2

World Journal of Biology and Biotechnology
Acromesomelic dysplasia, type Maroteaux (AMDM) is an autosomal recessive skeletal condition distinguish by uneven growth plates, spines, and limbs. People with Acromesomelic dysplasia are often much shorter than average and have disproportionately short ...
Zafar Ali, Sami Ullah, Najeeb Ullah, Fazal Akbar, Inamul Haq, Sania Fawad, Shahid Mahmood Baig, Niklas Dahl   +7 more
semanticscholar   +3 more sources

A novel <i>NPR2</i> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2020
. Acromesomelic dysplasia, type Maroteaux (AMDM) is a congenital bone dysplasia characterized by disproportionate, acromesomelic shortening of the limbs and mild spondylar dysplasia. AMDM is caused by biallelic loss-of-function mutations in NPR2 encoding
Naoko Amano, Hiroshi Kitoh, Satoshi Narumi, Gen Nishimura, Tomonobu Hasegawa   +4 more
semanticscholar   +5 more sources

Phosphatases modified by LH signaling in ovarian follicles: testing their role in regulating the NPR2 guanylyl cyclase [PDF]

Biology of Reproduction, 2023
In response to luteinizing hormone (LH), multiple proteins in rat and mouse granulosa cells are rapidly dephosphorylated, but the responsible phosphatases remain to be identified.
Jeremy R. Egbert, Ivan Silbern, Tracy F. Uliasz, Katie M. Lowther, Siu‐Pok Yee, Henning Urlaub, Laurinda A. Jaffe   +6 more
openalex   +2 more sources

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

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