Results 31 to 40 of about 295,678 (328)

Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis [PDF]

open access: yes, 2005
BACKGROUND AND AIMS: The MDR1 gene encodes P-glycoprotein 170, an efflux transporter that is highly expressed in intestinal epithelial cells. The MDR1 exonic single nucleotide polymorphisms (SNPs) C3435T and G2677T have been shown to correlate with ...
Arnott, Ian D   +7 more
core   +1 more source

Lack of evidence for decreased protein stability in the 2397 (Met) haplotype of the leucine rich repeat kinase 2 protein implicated in Parkinson’s disease [PDF]

open access: yes, 2017
Missense mutations in the leucine rich repeat kinase 2 (LRRK2) gene are the leading genetic cause of autosomal dominant familial Parkinson’s disease.
Anderton, Ryan S   +5 more
core   +2 more sources

A Genetic Make Up of Italian Lipizzan Horse Through Uniparental Markers to Preserve Historical Pedigrees

open access: yesBiology
Lipizzan is a famous horse breed dating back to 1580 when the original stud of Lipica was established by the Hasburg Archduke Charles II. Currently, the Italian State Stud of Lipizzan Horses (ASCAL) is a conservation nucleus managed through strict mating
Alessandra Crisà   +5 more
doaj   +1 more source

Analysis of the mtDNA D-loop Region Casts New Light on Philippine Red Junglefowl Phylogeny and Relationships to Other Junglefowl Species in Asia

open access: yesThe Journal of Poultry Science, 2022
Red junglefowl (RJF) is considered the ancestor of domestic chickens. However, the possible maternal origin, genetic diversity, and subspecies classification of the Philippine (PH) RJF remains uncertain.
Jade Dhapnee Z. Compendio   +2 more
doaj   +1 more source

Paraoxonase gene polymorphisms and haplotype analysis in a stroke population [PDF]

open access: yes, 2006
Peer reviewedPublisher ...
Cheung, J   +6 more
core   +2 more sources

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh   +22 more
wiley   +1 more source

Novel polymorphism at ARHGAP24 gene and its association with growth traits in Hu sheep

open access: yesAnimal Biotechnology
It is essential to identify potential genes and genetic variants associated with growth traits to enhance sheep breeding. Previous studies have suggested that the Rho GTPase-activating protein 24 (ARHGAP24) gene may influence the growth of some animals ...
Huili Shan   +6 more
doaj   +1 more source

Haplotype analysis of genomic prediction by incorporating genomic pathway information based on high-density SNP marker in Chinese yellow-feathered chicken

open access: yesPoultry Science, 2023
: Genomic selection using single nucleotide polymorphism (SNP) markers is now intensively investigated in breeding and has been widely utilized for genetic improvement.
Haoqiang Ye   +10 more
doaj   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik   +15 more
wiley   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han   +9 more
wiley   +1 more source

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