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2941
Phosphorylation of SIRT7 by ATM causes DNA mismatch repair downregulation and adaptive mutability during chemotherapy
Published 2025-02-01“…The DNA mismatch repair (MMR) system maintains genomic stability by correcting DNA errors. During DNA-damaging treatments, cancer cells transiently increase their adaptive mutability, also known as microsatellite instability (MSI), to evade therapeutic pressure through MMR downregulation, conferring drug resistance. …”
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2942
DNA Copy Number Changes at 8q11–24 in Metastasized Colorectal Cancer
Published 2005-01-01“…This observation is consistent with the concept that clinical behaviour, like risk of liver metastasis, is determined by the genomic profile that is already present in the primary tumor.…”
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2943
Potential pathogenic and protective genotypes and phenotypes of vitamin D binding protein in multiple sclerosis
Published 2025-02-01“…This study investigated frequencies of GC genotypes and phenotypes in Kuwaiti multiple sclerosis (MS) patients and healthy controls, and their associations with serum levels of 25 hydroxyvitamin D [25(OH)vitamin D] and VDBP.MethodsThe genomic DNA was isolated from blood samples of drug-naïve MS patients (N = 151) and controls (N = 127). …”
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2944
Quantification of Pregenomic RNA and Covalently Closed Circular DNA in Hepatitis B Virus-Related Hepatocellular Carcinoma
Published 2013-01-01“…Pregenomic RNA (pgRNA) is generated from covalently closed circular DNA (cccDNA) and plays important roles in viral genome amplification and replication. Hepatic pgRNA and cccDNA expression levels indicate viral persistence and replication activity. …”
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2945
Determination of HLA Tissue Type According to the Etiology of Patients with Chronic Renal Failure
Published 2024-12-01“…This study aims to investigate the association between human leukocyte antigen (HLA) alleles individuals with CKD and the different etiological subgroups of diesease. Methods: Genomic DNA was obtained from peripheral blood samples of 1,079 patients with retrospective CKD and 1,111 healthy control individuals. …”
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2946
TP53 Mutation Predicts Worse Survival and Earlier Local Progression in Patients with Hepatocellular Carcinoma Treated with Transarterial Embolization
Published 2025-01-01“…This single-institution study included patients from 1/2014 to 6/2022 who underwent TAE of HCC and genomic analysis of tumoral tissue. The primary outcome was overall survival (OS) with relation to TP53 status, and the secondary outcome was the time to progression. …”
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2947
Geographically widespread and novel hemotropic mycoplasmas and bartonellae in Mexican free-tailed bats and sympatric North American bat species
Published 2025-01-01“…The substantial diversity and seasonality of hemoplasmas and bartonellae observed here suggest that additional longitudinal, genomic, and immunological studies in bats are warranted to inform One Health approaches.IMPORTANCEBats have been intensively sampled for viruses but remain mostly understudied for bacterial pathogens. …”
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2948
Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors
Published 2019-01-01“…The aim of this study was to estimate the heritability of GSP and GSP expressed as a percentage of total serum albumin (%GA) using a variance component approach and localize genomic regions (QTLs) that harbor genes likely to influence GSP and %GA trait variation in a large extended multigenerational pedigree from Jiri, Nepal (n=1,800). …”
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2949
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2950
Sangre Por Salud (SPS) Biobank: cohort profile
Published 2025-02-01“…Additionally, we plan to obtain a more comprehensive genomic analysis on the entire cohort, ensuring greater research interest and investigation into the underlying genetic factors that contribute to disease susceptibility in this cohort.…”
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2951
Molecular and pharmacological heterogeneity of ETV6::RUNX1 acute lymphoblastic leukemia
Published 2025-01-01“…Abstract ETV6::RUNX1 is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL) associated with favorable prognosis, but the optimal therapy for this subtype remains unclear. Profiling the genomic and pharmacological landscape of 194 pediatric ETV6::RUNX1 ALL cases, we uncover two transcriptomic clusters, C1 (61%) and C2 (39%). …”
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2952
HDAC10 and its implications in Sézary syndrome pathogenesis
Published 2025-01-01“…Histone deacetylase inhibitors have gained attention in CTCL treatment with promising results, but they expose limited specificity and strong side effects. Recent genomic studies underscore the role of epigenetic modifiers in CTCL pathogenesis, prompting an investigation into HDAC10, a member of class IIb HDACs, in SS. …”
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2953
Targeted detection of endogenous LINE-1 proteins and ORF2p interactions
Published 2025-02-01“…Instead, assays for ORF2p have been limited to ectopic L1 ORF over-expression contexts and to indirect detection of endogenous ORF2p enzymatic activity, such as by the sequencing of de novo genomic insertions. Immunoassays for endogenous ORF2p have been problematic, producing apparent false positives due to cross-reactivities, and shotgun MS has not yielded reliable evidence of ORF2p peptides in biological samples. …”
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2954
CHD6 has poly(ADP-ribose)- and DNA-binding domains and regulates PARP1/2-trapping inhibitor sensitivity via abasic site repair
Published 2025-01-01“…DNA repair pathway screening reveals that CHD6 loss elicits insufficiency in apurinic-apyrimidinic endonuclease (APEX1) activity and genomic abasic site accumulation. We reveal APEX1-linked roles for CHD6 important for understanding PARP1/2-trapping inhibitor sensitivity.…”
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2955
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2956
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease
Published 2025-01-01“…Methods Affected and unaffected members from a Northern Italian family were included. Genomic DNA from family members was extracted and initially screened for pathogenic mutations in APP, PSEN1, and PSEN2, and screened for 77 genes associated with neurodegenerative conditions using NeuroX array assay. …”
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2957
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Published 2024-11-01“…Abstract Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. …”
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2958
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Published 2025-01-01“…Advanced molecular technologies point to genomic sequencing as an alternative and feasible strategy for the screening of genetic diseases, including IMDs. …”
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2959
Principles of Medical Biochemistry /
Published 2017Table of Contents: “…Introduction to biomolecules -- Introduction to protein structure -- Oxygen-binding proteins : hemoglobin and myoglobin -- Enzymatic reactions -- Coenzymes -- DNA, RNA, and protein synthesis -- The human genome -- Protein targeting and proteostasis -- Introduction to genetic diseases -- Viruses -- DNA technology -- Biological membranes -- The cytoskeleton -- The extracellular matrix -- Extracellular messengers -- Intracellular messengers -- Plasma proteins -- Defense mechanisms -- Cellular growth control and cancer -- Digestive enzymes -- Introduction to metabolic pathways -- Glycolysis, tricarboxylic acid cycle, and oxidative phosphorylation -- Oxygen deficiency and oxygen toxicity -- Carbohydrate metabolism -- The metabolism of fatty acids and triglycerides -- The metabolism of membrane lipids -- Lipid transport -- Amino acid metabolism -- Metabolism of iron and heme -- The metabolism of purines and pyrimidines -- Micronutrients -- Integration of metabolism.…”
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2960
Epigenetic modifications in bladder cancer: crosstalk between DNA methylation and miRNAs
Published 2025-02-01“…Alterations in this methylation pattern can lead to increased genomic instability, which profoundly influences the expression of proto-oncogenes and tumor suppressor genes. …”
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