Results 161 to 170 of about 8,739 (269)

Runs of homozygosity reveal candidate genes for economic traits in Danish Large White pigs. [PDF]

Arch Anim Breed
Ding W, Wu X, Bu Y, Zhang W, Wang Y, Ding Y, Zheng X, Zhang X, Yin Z.   +8 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Accurate Runs of Homozygosity Estimation From Low Coverage Genome Sequences in Non-Model Species. [PDF]

Mol Ecol Resour
Taylor RS, Manseau M, Wilson PJ.
europepmc   +1 more source

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

Epilepsia 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, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Genome-wide assessment of runs of homozygosity and inbreeding in Inner Mongolia cashmere goats reveals candidate genes for economic traits. [PDF]

Front Vet Sci
Qi Y, Rong Y, Zhang M, Wang X, Ao X, Shang F, Zhang Y, Wang R.   +7 more
europepmc   +1 more source

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

Epilepsia 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, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Genomic Scan for Runs of Homozygosity and Identification of Candidate Genes Under Domestication in Fengjing Pigs. [PDF]

Life (Basel)
Ni L, Gan H, Gu Z, Li S, Zhang J, Zhou C, Wang X, Xu P.   +7 more
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. [PDF]

Mol Ecol Resour
Shi M, Li H, Shafer ABA, Lan T.
europepmc   +1 more source

Long runs of homozygosity are reliable genomic markers of inbreeding depression. [PDF]

Trends Ecol Evol
Kyriazis CC, Robinson JA, Lohmueller KE.
europepmc   +1 more source