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3341
An Overview of DNA Repair in Amyotrophic Lateral Sclerosis
Published 2011-01-01“…Several DNA repair enzymes are activated following DNA damage to restore genome integrity, and impairments in DNA repair capabilities could contribute to motor neuron degeneration. …”
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3342
Genetic Evidence for Geographic Structure within the Neanderthal Population
Published 2024-07-01“…It argues that the observed pattern results from subdivision and gene flow. If two haploid genomes are sampled from the same subpopulation, their recent ancestors are likely to be geographic neighbors and therefore coalesce rapidly. …”
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3343
Personalized Therapy in a Patient With EGFR-Mutated NSCLC Developing Sequential CCDC6-RET Fusion and BRAF V600E Mutation as Bypass Resistance Mechanisms
Published 2025-03-01“…In this case report, we describe a case of sequential acquired CCDC6-RET fusion and BRAF V600E mutation observed in a patient with EGFR-mutated NSCLC treated with osimertinib and with combined selpercatinib and osimertinib. The discovery of genomic resistance mechanisms was facilitated by serial liquid and tissue biopsies and molecular tumor board discussion. …”
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3344
Advance technologies for DNA-protein interactions and future research prospect
Published 2025-02-01“…DNA-protein interactions (DPIs) are essential for genome functioning, with billions of years of evolution shaping specific patterns of protein-DNA interactions to regulate gene networks in response to various stimuli. …”
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3345
On the sensitivity of feature ranked lists for large-scale biological data
Published 2013-03-01“…The problem of feature selection for large-scale genomic data, for example from DNA microarray experiments, is one of the fundamental and well-investigated problems in modern computational biology.From the computational point of view, a selected gene list should be characterized by good predictive power and should be understood and well explained from the biological point of view.Recently, another feature of selected gene lists is increasingly investigated, namely their stability which measures how the content and/or the gene order change when the data are perturbed.In this paper we propose a new approach to analysis of gene list stability, termed the sensitivity index, that does not require any data perturbationand allows the gene list that is most reliable in a biological sense to be chosen.…”
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3346
Egg Microinjection for the Ladybird Beetle Harmonia axyridis
Published 2024-12-01“…Our step-by-step protocol is applicable to generating transgenic or genome-edited ladybird beetles, facilitating functional genetics in H. axyridis; the microinjection method should be applicable to other insect eggs.…”
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3347
Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
Published 2017-01-01“…In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies (GWAS) on this disease.…”
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3348
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
Published 2018-01-01“…Methods. We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. …”
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3349
Contribution of Genetic Factors to Sjögren’s Syndrome and Sjögren’s Syndrome Related Lymphomagenesis
Published 2015-01-01“…Genes within the major histocompatibility complex (MHC) locus previously considered conferring increased susceptibility to SS development have been also revealed as important contributors in recent genome wide association studies. Moreover, genetic variations outside the MHC locus involving genes in type I interferon pathway, NF-κB signaling, B- and T-cell function and methylation processes have been shown to be associated with both SS and SS-related lymphoma development. …”
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3350
Des graines, des fibres et des bobines
Published 2019-06-01“…This limited chronological framework differs from other studies devoted to the history of Gossypium sp. which explore their genomic evolution or the diffusion of textile techniques over several centuries. …”
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3351
Acholeplasma laidlawii PG8 Culture Adapted to Unfavorable Growth Conditions Shows an Expressed Phytopathogenicity
Published 2007-01-01“…The increasing pathogenicity was accompanied by changes in genome expression in these adapted cells. Further studies are needed to explore the exact mechanisms that permit adaptation to unfavorable growth conditions and changes in phytopathogenic potential.…”
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3352
Three Generations of Experience and Thought in Microbiology and Infection
Published 2003-01-01“…Professor Pallen is currently professor of bacterial genetics at the Medical School, University of Birmingham (United Kingdom); he is a keen enthusiast of genomic studies in the interest of molecular pathogenesis research. …”
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3353
COMPOSITION AND UTILIZATION OF THE APPLE- TREE COLLECTION IN BELARUS
Published 2018-06-01“…Using molecular markers made it possible to identify large-fruit donors with 2-3 oligogenes of apple scab resistance in the same genome, and small-fruit donors with 1-3 oligogenes of powdery mildew resistance. …”
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3354
THE NUMBER OF HOMOLOGS OF SOME ENZYMES IN THE TRYPTOPHAN BIOSYNTHESIS PATHWAY CORRELATES WITH THE PROPORTION OF PROTEINS ASSOCIATED WITH TRANSCRIPTION IN PLANTS
Published 2015-01-01“…We identified TBP enzyme paralogs in plant species with fully sequenced genomes and estimated the relationship between its number and organismal complexity. …”
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3355
First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
Published 2013-01-01“…To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.…”
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3356
Protocol for recombinant rabies virus titration by quantitative PCR
Published 2025-03-01“…We describe steps for preparing standards for RT-qPCR, rabies virus genome RNA extraction, and reverse transcription of virus RNA. …”
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3357
Evaluating the Role of Wnt Signal Transduction in Promoting the Development of the Heart
Published 2007-01-01“…Wnts are a family of secreted signaling proteins that are encoded by 19 distinct genes in the vertebrate genome. These molecules initiate several signal transduction pathways: the canonical Wnt, Wnt/Ca2+, and Wnt/planar cell polarity pathways. …”
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3358
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Published 2025-04-01“…This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.…”
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3359
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3360
Evaluation of various RNA-seq approaches for identification of gene outrons in the flatworm Opisthorchis felineus
Published 2020-12-01“…Recently, we assembled the O. felineus genome, but the correct genome annotation by means of standard methods was hampered by the presence of spliced leader trans-splicing (SLTS). …”
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