Results 111 to 120 of about 5,748,368 (263)

Impact of IL-10 (-1082) Promoter–Single Nucleotide Polymorphism on the Outcome of Hepatitis C Virus Genotype 4 Infection

open access: yes, 2014
Immuneregulatory cytokines may influence the hepatitis C virus (HCV) infection outcome. This study aimed to determine the genotypic and allelic frequencies of the interleukin (IL)-10 (-1082) G/A polymorphism, and its association with chronicity or ...
Soheir F. Helal   +4 more
core   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

open access: yesAdvanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai   +13 more
wiley   +1 more source

Associations of single nucleotide polymorphism with haemoglobin in four cohorts of African ancestry with meta-analyses.

open access: yes, 2016
Associations of single nucleotide polymorphism with haemoglobin in four cohorts of African ancestry with meta-analyses.
Jacobien Veenemans (147675)   +9 more
core   +1 more source

AKAP1 Protects Retinal Ganglion Cells and Preserves Vision by Improving Mitochondrial and Synaptic Health in Glaucomatous Neurodegeneration

open access: yesAdvanced Science, EarlyView.
Intravitreal AAV2‐mediated AKAP1 restoration enhances mitochondrial fusion and biogenesis, improves bioenergetic capacity, and preserves mitochondrial integrity in glaucomatous RGCs. AKAP1 stabilizes presynaptic structure, maintaining synaptic protein expression, and limiting complement‐associated neuroinflammation.
Tonking Bastola   +10 more
wiley   +1 more source

Associations of single nucleotide polymorphism with ferritin in four cohorts of African ancestry with meta-analyses.

open access: yes, 2016
Associations of single nucleotide polymorphism with ferritin in four cohorts of African ancestry with meta-analyses.
Jacobien Veenemans (147675)   +9 more
core   +1 more source

Gapless Complete Genome and Multi‐Omics Illuminate Immune Adaptation and Host‐Virus Interactions in a Coronavirus Reservoir

open access: yesAdvanced Science, EarlyView.
We present a complete T2T genome assembly for a key bat reservoir. Integrating population genomics, comparative genomics, transcriptomics, single‐cell omics, and functional assays, we resolve previously inaccessible genomic regions and identify evolutionary signatures associated with immune adaptation.
Yuting Wang   +15 more
wiley   +1 more source

XChrom: A Cross‐Cell Chromatin Accessibility Prediction Model Integrating Genomic Sequence and Cellular Context

open access: yesAdvanced Science, EarlyView.
XChrom is a deep learning framework that integrates genomic sequence and single‐cell context to predict chromatin accessibility. It generalizes to unseen cells and genomic regions, enabling cross‐sample and cross‐species analysis. Applied to COVID‐19 patient data, XChrom reveals key transcriptional regulatory mechanisms and disease‐associated ...
Yuanyuan Miao   +5 more
wiley   +1 more source

Detection of Single-Nucleotide Polymorphism

open access: yesBioTechniques, 1998
Weikuan Gu   +2 more
doaj   +1 more source

Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

open access: yesBiological Research, 2009
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients.
RODRIGO GONZÁLEZ   +8 more
doaj  

Y-chromosome single nucleotide polymorphism (Y-SNP) haplogroup frequencies of the 6 studied populations (%).

open access: yes, 2013
Y-chromosome single nucleotide polymorphism (Y-SNP) haplogroup frequencies of the 6 studied populations (%).
Guohong Zhang (238837)   +11 more
core   +1 more source

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