Results 51 to 60 of about 527,601 (289)

HUMAN GENOME FROM THE MOTHER + HUMAN GENOME FROM THE FATHER = PERSONAL DATA. LEGAL ISSUES OF DNA-IDENTIFICATION OF THE PERSON AND DNA-REGISTRATION OF THE POPULATION

open access: yesПравовое государство: теория и практика, 2022
The use of science and relevant innovative technologies for the development of tools and techniques for detecting and investigating crimes is an urgent task of increasing the effectiveness of fighting crime at the current stage. It is shown that in order
AMINEV Farit Gizarovich   +2 more
doaj   +1 more source

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

open access: yes, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E   +8 more
core   +2 more sources

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

open access: yesFEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz   +11 more
wiley   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

open access: yesMolecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova   +25 more
wiley   +1 more source

Missense mutations in exon 2 of the porcine leptin receptor gene and their associations with litter size and body weight

open access: yesCzech Journal of Animal Science, 2009
Leptin receptor (LEPR) gene is regarded as a "candidate-gene" of production traits. The aims of this study were to detect polymorphisms of exon 2 within LEPR gene and to investigate their associations with production traits, litter size and live weight ...
C. Sun, L. Wang, D. F. Jiang, B. Zhang
doaj   +1 more source

In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome

open access: yesThe EuroBiotech Journal, 2020
Hyperparathyroidism-Jaw Tumor (HPT-JT) is an autosomal dominant disorder with variable expression, with an estimated prevalence of 6.7 per 1,000 population.
Abdelmoneim Abdelrahman H.   +7 more
doaj   +1 more source

Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene [PDF]

open access: yes, 2009
Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 ...
Collins, M   +5 more
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

open access: yesMolecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic   +5 more
wiley   +1 more source

Methodological approaches to gene identification of tea raw materials and raw material composition of tea-based soft drinks

open access: yesПищевые системы
Tea or tea shrub is a plant of the Camellia sinensis species, the leaves of which, previously prepared in a special way, are the traditional raw material for the production of tea products.
R. R. Vafin   +2 more
doaj   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena   +15 more
wiley   +1 more source

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