Results 131 to 140 of about 338,913 (237)

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

A Population Pharmacokinetic Model of Gentamicin in Hospitalized Neonatal Foals

Journal of Veterinary Pharmacology and Therapeutics, EarlyView.
ABSTRACT Information on safe and effective gentamicin dosing in foals is limited. This study aimed to provide guidance regarding optimal dosing regimens by means of a population pharmacokinetic (popPK) model. Gentamicin plasma concentration of 290 samples from 72 hospitalized foals (≤ 14 days old), treated with intravenous (IV) gentamicin, was measured
Astrid J. van den Brom‐Spierenburg, Esther A. Winter, Mathijs J. P. Theelen, Ingeborg M. van Geijlswijk, Cornélie M. Westermann, Marianne M. Sloet van Oldruitenborgh‐Oosterbaan, Tim Florschütz, Johannes C. Vendrig, Esther W. Siegers, Kim de Graaf, Marc Cherlet, Mathias Devreese, Ronette Gehring   +12 more
wiley   +1 more source

Cis‐urocanic acid formation following far‐UVC exposure and associated signaling responses in keratinocytes

Photochemistry and Photobiology, EarlyView.
Far‐UVC (200–235 nm) has emerged as a safe and effective indoor disinfection tool, but effects on skin immunomodulation remain unclear. This study demonstrates that 222 nm far‐UVC converts trans‐urocanic acid (UCA) to its biologically active cis isomer at levels comparable with solar radiation. In keratinocytes, far‐UVC alone caused modest increases in
Lizzie Thomas, Gareth Hazell, Katarzyna Baczynska, Jinkang Zhang, Paul O'Mahoney   +4 more
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source

[Neonatal hypotonia of muscular origin: analysis of 50 cases].

Neurologia (Barcelona, Spain), 2001
Neonatal hypotonia is a common request for neurological consultation. The aim of this study is to describe the main clinical features of muscular hypotonia in newborns at the light of the histopathological findings.We reviewed 50 medical records of hypotonic neonates with abnormal muscular biopsy.
M, Floriach-Robert, A, Cabello, R, Simón De Las Heras, F, Mateos Beato   +3 more
openaire   +1 more source

Prenatal air pollution exposure is associated with altered neurodevelopmental outcomes in early childhood

The Journal of Physiology, EarlyView.
Abstract figure legend This study examined the effect of modelled maternal air pollution exposure during gestation on neurodevelopment in a community cohort of 498 toddlers recruited from Greater London, UK. Higher 1st trimester exposure to particulate matter and nitrogen dioxide was associated with lower language scores at 18 months adjusting for ...
Alexandra F. Bonthrone, Brendan Bos, Ben Barratt, Hoi Ching Olina Pang, Sean Beevers, Andrew Chew, Shona Falconer, Joseph V. Hajnal, Frank J. Kelly, Chiara Nosarti, A. David Edwards, Serena J. Counsell   +11 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

Integrating Tummy Time Into Routine NICU Care: Healthcare Workers’ Perspectives on Long‐Term Implementation in India

Physiotherapy Research International, Volume 32, Issue 1, January 2027.
ABSTRACT Background and Purpose Prone positioning for play (‘Tummy Time’) is an evidence‐based recommendation that supports early sensory‐motor development during infancy. Infants who require neonatal intensive care face a heightened risk of motor developmental delays, underscoring the importance of early developmental care practices.
Amruta Chutke, Kripa Dholakia, Tanmay Bagade, Puja Padbidri   +3 more
wiley   +1 more source

Expanding the spectrum of <i>TNNC2</i> variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant. [PDF]

J Neuromuscul Dis
Maino A, Chevallier M, Giovannini D, Leger M, Coston AL, Roux-Buisson N, Testard H, Thevenon J, Marty I, Fauré J, Dieterich K, Rendu J.   +11 more
europepmc   +1 more source