Results 61 to 70 of about 815,442 (374)
BioTechniquesGenomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have not been systematically assessed due to limitations around ...
Shapour Jalilzadeh +3 more
openaire +3 more sources
Canadian Journal of Gastroenterology and Hepatology, 2021 Background. Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic liver disease with wide ranges of reported incidence and prevalence. Aim. To map the incidence and prevalence of PBC in European countries from 2000 through 2020.
Jakub Gazda +3 more
doaj +1 more source
SumHer better estimates the SNP heritability of complex traits from summary statistics
Nature Genetics, 2018 We present SumHer, software for estimating confounding bias, SNP heritability, enrichments of heritability and genetic correlations using summary statistics from genome-wide association studies. The key difference between SumHer and the existing software
D. Speed, D. Balding
semanticscholar +1 more source
Proteomic Insight into Susac Syndrome Utilizing Tear Fluid—Case Study
Applied SciencesSusac Syndrome (SuS) is a rare autoimmune neurovascular disorder characterized by sudden visual loss, hearing disturbances, and encephalopathy. Pathology affects the small vessels of the brain, retina, and inner ear.
Soňa Tkáčiková +9 more
doaj +1 more source
Current Issues in Molecular Biology, 2022 At present, there is no effective way to treat the consequences of spinal cord injury (SCI). SCI leads to the death of neural and glial cells and widespread neuroinflammation with persisting for several weeks after the injury.
Lucia Slovinska +7 more
doaj +1 more source
npj Breast Cancer, 2018 The first genomic scar-based homologous recombination deficiency (HRD) measures were produced using SNP arrays. As array-based technology has been largely replaced by next generation sequencing approaches, it has become important to develop algorithms ...
Z. Sztupinszki +9 more
semanticscholar +1 more source
An intracellular transporter mitigates the CO2‐induced decline in iron content in Arabidopsis shoots
FEBS Letters, EarlyView.This study identifies a gene encoding a transmembrane protein, MIC, which contributes to the reduction of shoot Fe content observed in plants under elevated CO2. MIC is a putative Fe transporter localized to the Golgi and endosomal compartments. Its post‐translational regulation in roots may represent a potential target for improving plant nutrition ...
Timothy Mozzanino +7 more
wiley +1 more source
Specific Urinary Metabolites in Malignant Melanoma
Medicina, 2019 Background and objectives: Melanin, which has a confirmed role in melanoma cell behaviour, is formed in the process of melanogenesis and is synthesized from tryptophan, L-tyrosine and their metabolites.
Marcela Valko-Rokytovská +7 more
doaj +1 more source
MMP-2 geno-phenotype is prognostic for colorectal cancer survival, whereas MMP-9 is not. [PDF]
, 2008 The prognostic significance of single-nucleotide polymorphisms (SNPs) and tumour protein levels of MMP-2 and MMP-9 was evaluated in 215 colorectal cancer patients.
Hawinkels, LJAC +8 more
core +2 more sources
By dawn or dusk—how circadian timing rewrites bacterial infection outcomes
FEBS Letters, EarlyView.The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo +2 more
wiley +1 more source