Results 171 to 180 of about 225,713 (333)
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes
The FEBS Journal, EarlyView.Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut +2 more
wiley +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
Gender, Work &Organization, EarlyView.ABSTRACT Infertility is a working age population issue, meaning that many individuals undergoing fertility treatment are also in paid work—having to navigate conflicts between two often “greedy institutions,” which can both bring precarity. Traditional approaches to examining the work–life interface, focusing mainly on temporal issues, fail to account ...
Krystal Wilkinson +2 more
wiley +1 more source
Headache: The Journal of Head and Face Pain, EarlyView.Abstract Objective Calcitonin gene‐related peptide (CGRP) inhibitors, including monoclonal antibodies (mAbs) and small‐molecule antagonists (gepants), have transformed migraine treatment. Although clinical trials established their efficacy and initial safety, post‐marketing surveillance is essential for understanding their real‐world safety profile in ...
Martina Giacon, Salvatore Terrazzino
wiley +1 more source
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function.
Neuron, 2008 G. Bassell, S. Warren
semanticscholar +1 more source
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova +2 more
wiley +1 more source
Journal of Advanced Nursing, EarlyView.ABSTRACT Aim To synthesise evidence on wearable devices for continuous vital signs monitoring in adult hospital inpatients, focusing on clinical effectiveness, nursing perspectives, workflow impact, patient experience and resource implications. Design Scoping review.
Sian Myfanwy Shaw +2 more
wiley +1 more source