Results 171 to 180 of about 15,343 (276)

Exploring Runs of Homozygosity and Heterozygosity in Sheep Breeds Maintained in Poland. [PDF]

open access: yesGenes (Basel)
Szmatola T   +4 more
europepmc   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

open access: yesEpilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus   +7 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

open access: yesEpilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira   +5 more
wiley   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat   +15 more
wiley   +1 more source

Move beyond free radical theory of aging

open access: yesiMetaOmics, EarlyView.
Free radicals play a dual, dose‐dependent role in aging. Low levels activate the key sensor adenosine 5'‐monophosphate‐activated protein kinase (AMPK), promoting cell survival mechanisms like autophagy and enhancing mitochondrial health. High levels, however, push AMPK to initiate cell death pathways, such as apoptosis. This positions AMPK as a central
Xiaofeng Dai, Meilan Hu, Ruohan Lyu
wiley   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

open access: yesInterdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li   +10 more
wiley   +1 more source

Characterization of runs of homozygosity in Gyr cattle genome

open access: yes, 2017
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
openaire   +1 more source

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