Results 101 to 110 of about 80,852 (330)
Haplotypes exhibiting missing or deficit homozygosity.
, 2019 Table shows five loci exhibiting missing or deficit homozygosity on the Sscrofa11.1 genome build, four in the Landrace population (LA1-4), and one in the Duroc population (DU1).
Martijn F. L. Derks (5348063) +10 more
core +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Linkage analysis and homozygosity mapping.
, 2015 (A) A family comprising six animals and one very distantly related case were available for the initial mapping of the disease locus. We performed parametric linkage analysis for a recessive trait in the family and homozygosity analysis across the three ...
Anu K. Lappalainen (153956) +22 more
core +1 more source
PLoS ONE, 2022 Cacao is a globally important crop with a long history of domestication and selective breeding. Despite the increased use of elite clones by cacao farmers, worldwide plantations are established mainly using hybrid progeny material derived from ...
Uilson Vanderlei Lopes +3 more
doaj +1 more source
Runs of homozygosity and analysis of inbreeding depression.
Journal of Animal Science, 2019 Pedigree information was traditionally used to assess inbreeding. Availability of high-density marker panels provides an alternative to assess inbreeding, particularly in the presence of incomplete and error-prone pedigrees.
P. Sumreddee +5 more
semanticscholar +1 more source
Arthritis Care &Research, EarlyView.Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli +10 more
wiley +1 more source
BMC Genomics, 2010 Background Genome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information ...
McQuillan Ruth +12 more
doaj +1 more source
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity
bioRxiv, 2018 Runs of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical-by-descent. Their length distributions are informative about population history, and their genomic locations are useful ...
Z. Szpiech +6 more
semanticscholar +1 more source
Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle
Advanced Functional Materials, EarlyView.This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang +18 more
wiley +1 more source
Advanced Materials, EarlyView.A cholesterol‐conjugated lipid library enabled the identification of a ligand‐free LNP platform for efficient mRNA delivery to brain endothelial cells via systemic administration. This platform achieves selective BBB targeting without disrupting barrier integrity, and enables modulation of neuroinflammation and vascular function without requiring trans‐
Zeru Tian +7 more
wiley +1 more source