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  1. 3341

    An Overview of DNA Repair in Amyotrophic Lateral Sclerosis by Fabio Coppedè

    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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  2. 3342

    Genetic Evidence for Geographic Structure within the  Neanderthal Population by Rogers, Alan R.

    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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  3. 3343

    Personalized Therapy in a Patient With EGFR-Mutated NSCLC Developing Sequential CCDC6-RET Fusion and BRAF V600E Mutation as Bypass Resistance Mechanisms by Arianna Marinello, MD, Claudia Parisi, MD, Damien Vasseur, PhD, David Combarel, PharmD, Juliette Bihoreau, NP, Pernelle Lavaud, MD, Rémy Ezzedine, MD, Lodovica Zullo, MD, Luc Friboulet, PhD, Gerard Zalcman, MD, PhD, Antoine Italiano, MD, PhD, Benjamin Besse, MD, PhD, Mihaela Aldea, MD, PhD

    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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  4. 3344

    Advance technologies for DNA-protein interactions and future research prospect by Chengyi Qu, Hao Du

    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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  5. 3345

    On the sensitivity of feature ranked lists for large-scale biological data by Danuta Gaweł, Krzysztof Fujarewicz

    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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  6. 3346

    Egg Microinjection for the Ladybird Beetle Harmonia axyridis by Taro Nakamura, Yuji Matsuoka, Teruyuki Niimi

    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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  7. 3347

    Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis by Satoru Joshita, Takeji Umemura, Eiji Tanaka, Masao Ota

    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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  8. 3348

    Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

    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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  9. 3349

    Contribution of Genetic Factors to Sjögren’s Syndrome and Sjögren’s Syndrome Related Lymphomagenesis by Adrianos Nezos, Clio P. Mavragani

    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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  10. 3350

    Des graines, des fibres et des bobines by Lucie Smolderen

    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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  11. 3351

    Acholeplasma laidlawii PG8 Culture Adapted to Unfavorable Growth Conditions Shows an Expressed Phytopathogenicity by Vladislav M. Chernov, Natalia E. Moukhametshina, Yurii V. Gogolev, Tatiana N. Nesterova, Maxim V. Trushin, Olga A. Chernova

    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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  12. 3352

    Three Generations of Experience and Thought in Microbiology and Infection by Morris Goldner

    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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  13. 3353

    COMPOSITION AND UTILIZATION OF THE APPLE- TREE COLLECTION IN BELARUS by Z. A. Kazlouskaya

    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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  14. 3354

    THE NUMBER OF HOMOLOGS OF SOME ENZYMES IN THE TRYPTOPHAN BIOSYNTHESIS PATHWAY CORRELATES WITH THE PROPORTION OF PROTEINS ASSOCIATED WITH TRANSCRIPTION IN PLANTS by I. I. Turnaev, I. R. Akberdin, V. V. Suslov, D. A. Afonnikov

    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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  15. 3355

    First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 by Lindsay B. Henderson, Virginia L. Corson, Daniel O. Saul, Cynthia Anderson, Sarah Millard, Denise A. S. Batista, Karin J. Blakemore, Cheryl DeScipio

    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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  16. 3356

    Protocol for recombinant rabies virus titration by quantitative PCR by He Zhang, Xueping Gao, Xiangyu Ge, Xiao Wang, Minghui Song, Xia Zhang, Lei Jin

    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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  17. 3357

    Evaluating the Role of Wnt Signal Transduction in Promoting the Development of the Heart by Leonard M. Eisenberg, Carol A. Eisenberg

    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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  18. 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) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

    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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  19. 3359
  20. 3360

    Evaluation of various RNA-seq approaches for identification of gene outrons in the flatworm Opisthorchis felineus by N. I. Ershov, D. E. Maslov, N. P. Bondar

    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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