Showing 1,761 - 1,780 results of 11,465 for search '"gene"', query time: 0.21s Refine Results
  1. 1761
  2. 1762

    Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

    Published 2013-01-01
    “…The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire gene locus. Five mutations in the coding sequence of , including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations). …”
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  3. 1763

    Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer by Reza Mahmoudi, Bahareh Noori Alavicheh, Mohammad Amin Nazer Mozaffari, Mohammad Fararouei, Mohsen Nikseresht

    Published 2015-01-01
    “…This study aimed at investigating -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene in patients with breast cancer. …”
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  4. 1764

    Identification of Diagnostic Genes and Effective Drugs Associated with Osteoporosis Treatment by Single-Cell RNA-Seq Analysis and Network Pharmacology by Zhanyue Zhang, Tingbao Zhang, Liangshuang Zhou, Jianzhong Guan

    Published 2022-01-01
    “…Furthermore, we found 7 genes were correlated with above two subpopulations, and F9 gene had highest AUC. …”
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  5. 1765

    A meta-analysis of whole blood transcriptome reveals genes associated with increased neutrophil activity and T cell suppression in sepsis by T. N. Shruthi, Anbazhagan Kolandaswamy, Prabakara Somanna

    Published 2025-01-01
    “…Results Gene expression data resulted in 233 differentially expressed genes (DEGs), 146 genes were up-regulated and 87 genes were down-regulated. …”
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  6. 1766

    E-Selectin/AAV Gene Therapy Promotes Myogenesis and Skeletal Muscle Recovery in a Mouse Hindlimb Ischemia Model by Antoine J. Ribieras, Yulexi Y. Ortiz, Yan Li, Nga T. Le, Carlos T. Huerta, Francesca A. Voza, Hongwei Shao, Roberto I. Vazquez-Padron, Zhao-Jun Liu, Omaida C. Velazquez

    Published 2023-01-01
    “…Therapeutic priming of ischemic limb tissues with intramuscular E-selectin gene therapy promotes angiogenesis and reduces tissue loss in a murine hindlimb gangrene model. …”
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  7. 1767

    A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles by Kuniyuki Nakamura, Tetsuro Ago, Akihiro Tsuchimoto, Nozomi Noda, Asako Nakamura, Toshiharu Ninomiya, Takeshi Uchiumi, Kazuhiko Tsuruya, Masahiro Kamouchi, Hiroaki Ooboshi, Takanari Kitazono

    Published 2015-01-01
    “…We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. …”
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  8. 1768
  9. 1769

    Genome-Wide Identification and Expression Analysis of PkNRT Gene Family in Korean Pine (<i>Pinus koraiensis</i>) by Xinyu Zhao, Haibo Wu, Boyang Li, Pengyang Wang, Peng Zhang, Hailong Shen, Jianfei Yang

    Published 2025-01-01
    “…Here, we present a comprehensive genome-wide analysis and characterization of the NRT gene family in Korean pine, an invaluable tree species cultivated extensively in northeastern China. …”
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  10. 1770

    Identification of CβS and ODC antimony resistance markers in anthroponotic cutaneous leishmaniasis field isolates by gene expression profiling by Farzaneh Zarrinkar, Iraj Sharifi, Razieh Tavakoli Oliaee, Ali Afgar, Elaheh Molaakbari, Mehdi Bamorovat, Zahra Babaei, Ebrahim Eskandari, Ehsan Salarkia, Marzieh Asadi

    Published 2025-02-01
    “…All cases were identified to be L. tropica. Both resistant gene markers were significantly up-regulated in unresponsive and responsive isolates. …”
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  11. 1771
  12. 1772
  13. 1773

    Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

    Published 2025-02-01
    “…Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. As a result, undigested glycogen accumulates within lysosomes causing their dysfunction. …”
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  14. 1774
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  16. 1776

    Genetic Variation of the DGAT1 gene in Dual-Purpose Dairy Cows and its Influence on Economically Important Breeding Traits by Mark E Armitage, Emma Swan, Denise O'Meara

    Published 2019-09-01
    “…One such gene, the diacylglycerol O-acyltransferase 1 (DGAT1) gene is significant in dairy production as it is associated with the synthesis of fat in milk, and polymorphisms within the gene can be used for selection purposes. …”
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  17. 1777

    Integrated bioinformatics analysis identified cuproptosis-related hub gene Mpeg1 as potential biomarker in spinal cord injury by Dandan Mao, Qi Chen, Shuolan Tong, Zixia Xu, Guofeng Yu, Chuan Chang, Yao Lv

    Published 2025-01-01
    “…From these modules, we identified two hub genes, Cd48 and Mpeg1, which exhibited a strong positive correlation (R = 0.92) and shared similar pathways. …”
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  18. 1778
  19. 1779

    Chloroplast Vesiculation and Induced Chloroplast Vesiculation and Senescence‐Associated Gene 12 Expression During Tomato Flower Pedicel Abscission by Magda Tušek Žnidarič, Maja Zagorščak, Živa Ramšak, Katja Stare, Marko Chersicola, Maruša Pompe Novak, Aleš Kladnik, Marina Dermastia

    Published 2025-01-01
    “…Significant changes in chloroplast structure and vesicle formation were observed 8 and 14 h after abscission induction, coinciding with the differential expression of vesiculation‐related genes, particularly with upregulation of Senescence‐Associated Gene 12 (SAG12) and Chloroplast Vesiculation (CV). …”
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  20. 1780

    Genetic Polymorphisms in the RAD51 Gene with a Risk of Head and Neck Cancer and Esophageal Cancer: A Meta-Analysis by Lin Li, Xue Zhang, Zhong-Ti Zhang

    Published 2019-01-01
    “…Background. The role of RAD51 gene polymorphisms with the development of head and neck cancer (HNC) and esophageal cancer (EC) remains controversial. …”
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