Results 231 to 240 of about 274,715 (359)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3) [PDF]

open access: bronze, 2000
Donghyun Hong   +5 more
openalex   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

open access: yesEpilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk   +8 more
wiley   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska   +4 more
wiley   +1 more source

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