Results 51 to 60 of about 8,553 (167)

Handwriting speed in left‐handed children with right‐sided neonatal brachial plexus palsy

Developmental Medicine &Child Neurology, EarlyView.
This observational study investigated whether left‐handed children with right‐sided neonatal brachial plexus palsy (NBPP) exhibit reduced handwriting speed compared with typically developing left‐handed peers and explored determinants of any observed differences.
Rani De Pauw, Laura Tack, Anke Van Bladel, Ruth Van der Looven   +3 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Autopsy and Case Reports, 2021
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies.
Meghan Elizabeth Kapp, Pamela Lyle, Hilary Highfield Nickols   +2 more
doaj  

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo, Yair Anikster, Valeria Tiranti, Arcangela Iuso   +3 more
wiley   +1 more source

A Case of Prenatally Diagnosed Arthrogryposis Multiplex Congenita

Düzce Tıp Fakültesi Dergisi
Arthrogryposis multiplex congenita (AMC) is a clinical entity characterized by reduced fetal movements (fetal akinesia), fetal growth restriction (FGR), joint contractures (arthrogryposis), facial anomalies, lung developmental delay (pulmonary hypoplasia)
Seda Atmaca Kılın, Süreyya Sarıdaş Demir, Mustafa Reşorlu, Şenay Bengin Ertem   +3 more
doaj   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

TREATMENT OF THE LOW LIMB DEFORMITIES IN YOUNG CHILDREN WITH ARTHROGRYPOSIS (REVIEW)

Travmatologiâ i Ortopediâ Rossii, 2012
The review of domestic and foreign literature on a problem of treatment of the low limb deformities in young children with arthrogryposis is revealed in the article.
A. G. Baindurashvili, D. V. Derevyanko, O. E. Agranovich   +2 more
doaj   +1 more source

Piezo2 Mediates a Vicious Cycle of “Mechanical Homeostasis Imbalance—Inflammation” in Sensory Nerves and the Cartilage Endplate

Advanced Science, Volume 13, Issue 38, 9 July 2026.
In a lumbar spine instability model, dorsal root ganglion cells mediate the perception of relevant mechanical stresses through Piezo2 and subsequently release CGRP. CGRP activates the NF‐κB signaling pathway in cartilage endplate cells through the receptor RAMP1.
Hanpeng Xu, Wen Geng, Zhi Du, Yifan Du, Di Wu, Bide Tong, Huaizhen Liang, Xingyu Zhou, Zixuan Ou, Junyu Wei, Kun Wang, Yu Song, Wenbin Hua, Yan Xu, Wencan Ke, Bingjin Wang, Cao Yang   +16 more
wiley   +1 more source

An Activity‐Dependent NEPAS–PTX3 Axis Links Neurovascular and Myelin Deficits to Cognitive Impairment

Advanced Science, Volume 13, Issue 37, 3 July 2026.
An activity‐dependent pathway links prefrontal circuit hypoactivity to cognitive impairment. Reduced PVA–mPFC activity upregulates NEPAS, which suppresses PTX3 secretion, leading to impaired angiogenesis, myelin deficits, and memory decline. Rescue is achieved by NEPAS knockdown or chemogenetic circuit activation.
Boya Hu, Zifei Chen, Bingmei Sun, Jiale Gao, Jiale Xu, Xiaochun Guo, Fenfei Gao, Zhongsi Wang, Jie Wu, Xiaoyu Ji, Peipei Liu, Bing Huang   +11 more
wiley   +1 more source

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Prenatal Diagnosis, EarlyView.
Jade Ramini, Cumine van Tonder, Yolandi Swart, Kerry Rademan, Samantha Budhram, Lut Geerts, Shahida Moosa   +6 more
wiley   +1 more source