Results 51 to 60 of about 876,901 (295)

ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment

open access: yesMedicina, 2021
Background and Objectives: The age-related macular degeneration (AMD) pathophysiology is multifactorial, as it consists of interactions between aging, genetic, and environmental factors.
Ruta Mockute   +4 more
doaj   +1 more source

Allele-specific multi-sample copy number segmentation in ASCAT.

open access: yes, 2021
MOTIVATION: Allele-specific copy number alterations are commonly used to trace the evolution of tumours. A key step of the analysis is to segment genomic data into regions of constant copy number.
Peter Van Loo (9838)   +3 more
core  

Allele-specific enhancer interaction at the Peg3 imprinted domain [PDF]

open access: yes, 2019
The parental allele specificity of mammalian imprinted genes has been evolutionarily well conserved, although its functional constraints and associated mechanisms are not fully understood.
Joomyeong Kim   +17 more
core   +1 more source

Partial depletion of plasminogen activator inhibitor‐1 decreases subcutaneous fat cell hypertrophy and liver cholesterol in high‐fat‐fed female mice

open access: yesFEBS Letters, EarlyView.
Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante   +10 more
wiley   +1 more source

Development of a Providencia stuartii multilocus sequence typing scheme

open access: yesFrontiers in Microbiology
IntroductionThe Providencia genus is assuming greater clinical relevance among infections caused by Enterobacterales also because of its intrinsic and acquired resistance to last-resort antibiotics. However, despite having been known and studied for over
Gabriele Arcari   +5 more
doaj   +1 more source

Allele-specific expression in reciprocal crosses of Virginia Tech high-growth and low-growth selection lines

open access: yes, 2020
Allele-specific expression in reciprocal crosses of Virginia Tech high-growth and low-growth selection lines The Virginia Tech high-growth and low-growth selection lines of White Plymouth Rock chickens have been developed by more than 50 generations ...
Hélène Gilbert (407257)   +8 more
core   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

open access: yesMolecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder   +10 more
wiley   +1 more source

Advances in the genetic basis of ischemic stroke [PDF]

open access: yesJournal of Medical Biochemistry, 2008
As one of the leading causes of death within both the developed and developing world, stroke is a worldwide problem. About 80% of strokes are ischemic. It is caused by multiple genetic factors, environmental factors, and interactions among these factors.
Stanković Sanja, Majkić-Singh Nada
doaj  

Association of the AspP298Asn polymorphism in the MC4R gene with fattening productivity of immunologically castrated and uncastrated gilts

open access: yesБіологія тварин, 2023
The study was aimed at establishing the presence of MC4R (c.1426 A>G) gene polymorphism among the population of immunologically castrated and native gilts (Large White × Landrace) × Maxgro.
Y. Pocherniaieva   +2 more
doaj   +1 more source

Allele-specific mutation bias is caused by allele-specific chromatin modifications.

open access: yes, 2018
(A) The degree of methylated alleles correlates with allele-specific mutation bias across three imprinted target sites (sgInpp5f_v2, sgKvDMR1, sgImpact) in two mESC lines.
Tracy Ballinger (6078908)   +9 more
core   +1 more source

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