Results 131 to 140 of about 444,739 (309)

A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. [PDF]

open access: yes, 2011
BackgroundRheumatoid arthritis (RA) can be divided into two major subsets based on the presence or absence of antibodies to citrullinated peptide antigens (ACPA).
Alfredsson, Lars   +8 more
core  

NamiRNA‐Enhancer Network: The Changing Era Challenge and Chance of miRNA

open access: yesAdvanced Science, EarlyView.
MiRNAs (miRNAs) regulate diverse biological processes across species. Unlike canonical miRNA‐mediated gene repression, Nuclear Activating miRNAs (NamiRNAs) can efficiently upregulate gene expression by targeting enhancers. This review systematically summarizes recent advances in NamiRNA research, elucidates the theory of NamiRNA‐Enhancer‐mediated Gene ...
Lu Chen   +13 more
wiley   +1 more source

Single-nucleotide polymorphism-based genetic risk score and patient age at prostate cancer diagnosis [PDF]

open access: yes, 2019
Importance: Few studies have evaluated the association between a single-nucleotide polymorphism-based genetic risk score (GRS) and patient age at prostate cancer (PCa) diagnosis.
Andriole, Gerald L   +10 more
core   +1 more source

Engineered crRNA Drives RPA‐T7‐CRISPR/Cas14a Cascade for Ultrasensitive Detection of ctDNA PIK3CA H1047R

open access: yesAdvanced Science, EarlyView.
The TIDE‐Cas14a system, an integrated RPA‐T7‐CRISPR/Cas14a cascade platform incorporating engineered crRNA mismatches, enables ultrasensitive detection of the PIK3CA H1047R mutation in breast cancer circulating tumor DNA, with a limit of detection as low as 0.01%, surpassing the sensitivity of droplet digital PCR.
Yuanyuan Yu   +19 more
wiley   +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  

Integration of Genetic and Imaging Data for Alzheimer's Disease Diagnosis and Interpretation

open access: yesAdvanced Science, EarlyView.
AlzCLIP is a novel contrastive learning framework that integrates single nucleotide polymorphism (SNP) profiles and MRI‐derived imaging features into a unified representation space to improve Alzheimer's disease (AD) diagnosis and interpretation. By achieving superior diagnostic accuracy and revealing key genetic and structural contributors to AD risk,
Yanfei Wang   +7 more
wiley   +1 more source

Hepatic CBP/p300 Orchestrate Amino Acid‐Driven Gluconeogenesis through Histone Crotonylation

open access: yesAdvanced Science, EarlyView.
Hepatic CBP/p300 control amino acid‐driven gluconeogenesis by modulating histone crotonylation. This study identifies 2‐aminoadipate (2‐AAA) as a key metabolite that enhances crotonylation and activates amino acid and gluconeogenic gene expression.
Chunxiang Sheng   +15 more
wiley   +1 more source

A time-dependent Poisson random field model for polymorphism within and between two related biological species

open access: yes, 2010
We derive a Poisson random field model for population site polymorphisms differences within and between two species that share a relatively recent common ancestor. The model can be either equilibrium or time inhomogeneous.
Amei, Amei, Sawyer, Stanley
core   +1 more source

Influence of rs1080985 single nucleotide polymorphism of the CYP2D6 gene on response to treatment with donepezil in patients with Alzheimer’s disease

open access: yesNeuropsychiatric Disease and Treatment, 2013
Aleksandra Klimkowicz-Mrowiec,1 Pawel Wolkow,2 Malgorzata Sado,3 Anna Dziubek,3 Joanna Pera,1 Tomasz Dziedzic,1 Andrzej Szczudlik,1 Agnieszka Slowik1 1Department of Neurology, Jagiellonian University, School of Medicine, Botaniczna, 2Department of ...
Klimkowicz-Mrowiec A   +7 more
doaj  

Analyses of GWAS and Sub‐Threshold Loci Lead to the Discovery of Dendrite Development and Morphology Dysfunction Underlying Schizophrenia Genetic Risk

open access: yesAdvanced Science, EarlyView.
A cost‐effective strategy is developed analyzing sub‐threshold GWAS loci (5 × 10−8 < P ≤ 10−6), identifying 180 risk loci and 304 high‐confidence genes through combined GWAS/subGWAS analysis. This approach reveals dendrite development and morphogenesis (DDM) as a novel SCZ pathway.
Rui Chen   +15 more
wiley   +1 more source

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