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2421
Exploring effector protein dynamics and natural fungicidal potential in rice blast pathogen Magnaporthe oryzae.
Published 2025-01-01“…Rice blast, caused by Magnaporthe oryzae, is one of the most destructive fungal diseases in rice, resulting in major economic losses worldwide. Genetic and genomic studies have identified key genes and proteins, such as AvrPik variants and MAX proteins, that are crucial for the pathogen's virulence. …”
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2422
Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV
Published 2025-01-01“…Both patients shared common NEDSDV features; however, distinct phenotypic variations were observed depending on the type of genomic variant. NGS is crucial for the diagnosis of global developmental delay, particularly when brain magnetic resonance imaging (MRI) results appear normal. …”
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2423
Genetic Polymorphisms in the DR2D, ANKK1, COMT, 5HTT Genes and Dental Fluorosis: Is There Any Interplay?
Published 2025-01-01“…Material and Methods: 256 adolescents were examined, and dental fluorosis was diagnosed using the modified Dean index. Genomic DNA was collected, and seven single nucleotide polymorphisms (SNPs), two in the DRD2 (rs6275 and rs6276), one in the ANKK1 (rs1800497), two in the COMT (rs6269 and rs4818), and two in the 5HTT (rs3813034 and rs1042173) were selected. …”
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2424
How does the mode of evolutionary divergence affect reproductive isolation?
Published 2023-01-01“…When divergent populations interbreed, the outcome will be affected by the genomic and phenotypic differences that they have accumulated. …”
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2425
Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research
Published 2012-01-01“…While MeCP2 was originally found to bind methylated DNA and interact with repressor complexes to inhibit and silence its genomic targets, recent studies have challenged this idea. …”
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2426
Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60
Published 2012-01-01“…Oxidative damage, mitochondrial dysfunction, genomic instability, and telomere shortening represent all molecular processes proposed as causal factors in aging. …”
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2427
Stage-specific expression and divergent functions of two insulinase-like proteases associated with host infectivity in Cryptosporidium.
Published 2025-01-01“…Results from recent comparative genomic studies suggest that gains and losses of multicopy subtelomeric genes encoding insulinase-like proteases (INS-19 and INS-20 in Cryptosporidium parvum and their orthologs in closely related species) may potentially contribute to these differences.…”
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2428
DNA Extraction from Bronchial Aspirates for Molecular Cytology: Which Method to Take?
Published 2003-01-01“…It was the aim of the present study to evaluate the ability of 50% ethanol/2% carbowax (Saccomanno fixative) to preserve bronchial secretions with high quality genomic DNA as well as to compare different DNA extraction methods. …”
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2429
Functions and applications of RNA interference and small regulatory RNAs
Published 2024-11-01“…Small regulatory RNAs play a variety of crucial roles in eukaryotes, influencing gene regulation, developmental timing, antiviral defense, and genome integrity via a process termed RNA interference (RNAi). …”
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2430
COVID-19: Understanding the New Variants of Concern
Published 2022-12-01“…Nevertheless, continuous genomic surveillance of the coronavirus is still important to detect any new variants of concern to assess their potential to threaten public health. …”
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2431
Genotype-phenotype insights of pediatric dilated cardiomyopathy
Published 2025-01-01“…Research has shown that DCM exhibits notable genetic heterogeneity, with over 100 DCM-related genes identified to date, primarily involving functions such as calcium handling, the cytoskeleton, and ion channels. As human genomic variations are linked to phenotypes, DCM phenotypes are influenced by numerous genetic variations across the entire genome. …”
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2432
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes
Published 2016-01-01“…We discuss some of the nuances that should be considered in the assessment of genomic variants. In addition, we highlight lines of evidence such as functional assays and structural analysis that can be useful in the assessment of rare and complex variants.…”
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2433
A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations
Published 2025-02-01“…Abstract Genomic imprinting controls parental allele-specific gene expression via epigenetic mechanisms. …”
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2434
True Lies: The Double Life of the Nucleotide Excision Repair Factors in Transcription and DNA Repair
Published 2010-01-01“…During NER, more than 30 polypeptides cooperate to recognize, incise, and excise a damaged oligonucleotide from the genomic DNA. Recent papers reveal an additional and unexpected role for the NER factors. …”
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2435
Simultaneous aerobic and anaerobic respiration in hot spring chemolithotrophic bacteria
Published 2025-01-01“…This aerobic, S0-reducing metabolism is suggested to provide a competitive advantage in environments where O2 availability is low and variable. Genomic data indicating the prevalence of proteins allowing for this hybrid form of energy metabolism among bacteria and archaea suggest it to be widespread but previously overlooked due to rapid, O2-dependent abiotic oxidation of produced sulfide. …”
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2436
Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome
Published 2021-01-01“…For this purpose, published articles and reviews dealing with genetic evaluation of PCOS in women from peer-reviewed journals in PubMed and Google Scholar databases were included in this review. Results. The genomic investigations in women of different populations identified many candidate genes and loci that are associated with PCOS. …”
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2437
The Impact of the Metabolic Syndrome Severity on the Appearance of Primary and Permanent DNA Damage
Published 2024-12-01“…Unrepaired damage can lead to DNA base changes, chromosomal mutations, genomic loss and instability, and disrupted gene and protein expression. …”
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2438
Microclonal propagation of elite industrial grape cultivars (<i>Vitis vinifera</i> L.)
Published 2024-01-01“…Due to certain biological characteristics of grapes, such as a long juvenile period (5–8 years), a high degree of genomic heterozygosity, and the frequently encountered phenomenon of inbred depression, when homozygotization during hybridization leads to a loss of viability and production characteristics of the cultivar, vegetative propagation becomes the basis for grape reproduction and industrial cultivation. …”
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2439
Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives
Published 2025-01-01“…However, despite advancements in gene manipulation tools and delivery systems, several challenges remain unresolved, including inefficient delivery, lack of sustained expression, immunogenicity, toxicity, capacity limitations, genomic integration risks, and limited tissue specificity. …”
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2440
Alu-Sc-mediated exonization generated a mitochondrial LKB1 gene variant found only in higher order primates
Published 2025-01-01“…Analyses of putative exon 1b genomic sequences within the primate superfamily indicated that the exonization of LKB1/STK11 exon 1b was mediated by the conserved retrotransposable element Alu-Sc. …”
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