Results 41 to 50 of about 21,579,379 (182)

Biparental Crossing and QTL Mapping for Validation of Genome-Wide Association Studies

open access: yes, 2022
Association mapping (AM), also known as genome-wide association studies (GWAS), is increasingly being employed in crop plants for the identification of QTL/genes and marker–trait associations (MTAs) in natural populations.
Singh, R, Kulwal, PL
core   +1 more source

Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records

open access: yesBMC Medical Genomics, 2020
Background Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes.
Olivia J. Veatch   +9 more
doaj   +1 more source

Human and Machine Intelligence Together Drive Drug Repurposing in Rare Diseases

open access: yesFrontiers in Genetics, 2021
Repurposing is an increasingly attractive method within the field of drug development for its efficiency at identifying new therapeutic opportunities among approved drugs at greatly reduced cost and time of more traditional methods.
Anup P. Challa   +16 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

open access: yesMolecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche   +10 more
wiley   +1 more source

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. [PDF]

open access: yes, 2011
The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA.
Keating, BJ   +999 more
core   +2 more sources

Dose‐dependent hepatotoxicity of hydrogen peroxide in HepG2 cells and its modulation by CYP450 induction

open access: yesFEBS Open Bio, EarlyView.
NMR metabolomics revealed concentration‐dependent metabolic perturbations in HepG2 cells exposed to H2O2. Rifampicin pretreatment enhanced metabolic competence, attenuated toxin‐induced alterations and produced metabolite profiles more consistent with human liver physiology, supporting the use of CYP450‐induced HepG2 models for improved in vitro ...
Maren Jinks   +4 more
wiley   +1 more source

Charting Endocrine Progenitors Across Species and Organs

open access: yesAdvanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing   +21 more
wiley   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

open access: yesAdvanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang   +10 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

open access: yesAdvanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li   +23 more
wiley   +1 more source

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

open access: yesGenome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao   +5 more
doaj   +1 more source

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