Results 121 to 130 of about 8,691,632 (395)

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

open access: yesFEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao   +7 more
wiley   +1 more source

Genome-Wide Association and Linkage Analysis of Quantitative Traits: Comparison pf Likelihood-Ratio Test and Conditional Score Statistic [PDF]

open access: yes, 2009
Over the past decade, genetic analysis has shifted from linkage studies, which identify broad regions containing putative trait loci, to genome-wide association studies, which detect the association of a marker with a specific phenotype.
Dupuis, Josée   +2 more
core   +1 more source

Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community

open access: yesNeuropsychiatric Disease and Treatment, 2019
Arwa H Arab,1 Nasser A Elhawary2,3 1Department of Psychology, Faculty of Arts and Humanities, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia; 2Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Mecca 21955, Saudi Arabia;
Arab AH, Elhawary NA
doaj  

Genetic associations: false or true? [PDF]

open access: yesTrends in Molecular Medicine, 2003
Genetic association studies for multigenetic diseases are like fishing for the truth in a sea of trillions of candidate analyses. Red herrings are unavoidably common, and bias might cause serious misconceptions. However, a sizeable proportion of identified genetic associations are probably true.
openaire   +3 more sources

Single‐cell insights into the role of T cells in B‐cell malignancies

open access: yesFEBS Letters, EarlyView.
Single‐cell technologies have transformed our understanding of T cell–tumor cell interactions in B‐cell malignancies, revealing new T‐cell subsets, functional states, and immune evasion mechanisms. This Review synthesizes these findings, highlighting the roles of T cells in pathogenesis, progression, and therapy response, and underscoring their ...
Laura Llaó‐Cid
wiley   +1 more source

Intron‐oriented HTLV‐1 integration in an adult T‐cell leukemia/lymphoma cell line sustains expression of intact ift81 mRNA

open access: yesFEBS Letters, EarlyView.
In the adult T‐cell leukemia/lymphoma (ATL) cell line ED, the human T‐cell leukemia virus type 1 (HTLV‐1) provirus was integrated into the intron of the ift81 gene in the antisense orientation. Despite this integration, both the intact ift81 and the viral oncogene hbz were simultaneously expressed, likely due to the functional insufficiency of viral ...
Mayuko Yagi   +5 more
wiley   +1 more source

Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

open access: yesNature Communications, 2019
Sleep is an essential state of decreased activity and alertness but molecular factors regulating sleep duration remain unknown. Through genome-wide association analysis in 446,118 adults of European ancestry from the UK Biobank, we identify 78 loci for ...
H. Dashti   +31 more
semanticscholar   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

open access: yesFEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää   +2 more
wiley   +1 more source

INTERLEUKIN 28 RECEPTOR GENE ALPHA IL28RA AND PSORIASIS: ASSOCIATION WITH DISEASE SEVERITY AND AGE AT ONSET

open access: yesМедицинская иммунология, 2016
Molecular basis still remains unclear for psoriasis, a chronic inflammatory skin disease. It biological features are presented by abnormal differentiation of epidermal keratinocytes, overgrowth and dilation of blood vessels, and leukocyte infiltration of
E. S. Galimova, E. K. Khusnutdinova
doaj   +1 more source

The Genetic Association Database [PDF]

open access: yesNature Genetics, 2004
Kathleen C. Barnes   +3 more
openaire   +3 more sources

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