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    Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega

    Published 2018-01-01
    “…Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. …”
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    Article
  3. 303

    Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

    Published 2020-01-01
    “…Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. …”
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    In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder by Kübra Çoruh Kınalı, Ebru Özkan Oktay, Mesut Karahan

    Published 2025-01-01
    “…Conclusion This study revealed the potential effects of genetic variations on three genes associated with ASD. …”
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    Article
  6. 306

    First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

    Published 2024-12-01
    “…Abstract Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant genetic disorder manifesting as a result of haploinsufficiency of the GATA3 gene. …”
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    Reconstruction and analysis of the gene regulatory network for cell wall function in <i>Arabidopsis thaliana</i> L. leaves in response to water deficit by A. R. Volyanskaya, E. A. Antropova, U. S. Zubairova, P. S. Demenkov, A. S. Venzel, Y. L. Orlov, A. A. Makarova, T. V. Ivanisenko, T. A. Gorshkova, A. R. Aglyamova, N. A. Kolchanov, M. Chen, V. A.  Ivanisenko

    Published 2023-12-01
    “…Overall, the implemented algorithm could be used for prediction of regulatory interactions between transcription factors and target genes encoding cell wall proteins in plants.…”
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  10. 310

    Role of the Kaiso gene in the development of inflammation in Mucin-2 defcient mice by E. A. Litvinova, K. M. Achasova, M. A. Borisova, S. V. Zhenilo, E. B. Prokhortchouk, E. N. Kozhevnikova

    Published 2019-01-01
    “…One of such transcription factors is “zinc fnger” domain-containing protein Kaiso which is able to bind to methylated DNA. …”
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  11. 311

    rSNP_Guide-BASED EVALUATION OF SNPs IN PROMOTеRS OF THE HUMAN APC AND MLH1 GENES ASSOCIATED WITH COLON CANCER by D. A. Rasskazov, E. V. Antontseva, L. O. Bryzgalov, M. Yu. Matveeva, E. V. Kashina, P. M. Ponomarenko, G. V. Orlova, M. P. Ponomarenko, D. A. Afonnikov, T. I. Merkulova

    Published 2015-01-01
    “…Our results substantiate investigation of associations of rs75996864, rs76241113, rs78037487, rs80112297, and rs80313086 in the APC gene with colon cancer by using commonly accepted medical and genetic protocols.…”
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    Flavones enrich rhizosphere Pseudomonas to enhance nitrogen utilization and secondary root growth in Populus by Jiadong Wu, Sijia Liu, Haoyu Zhang, Sisi Chen, Jingna Si, Lin Liu, Yue Wang, Shuxian Tan, Yuxin Du, Zhelun Jin, Jianbo Xie, Deqiang Zhang

    Published 2025-02-01
    “…Abstract Plant growth behavior is a function of genetic network architecture. The importance of root microbiome variation driving plant functional traits is increasingly recognized, but the genetic mechanisms governing this variation are less studied. …”
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    PLANT GENE PROMOTERS RESPONSIVE TO PATHOGEN INVASION by O. G. Smirnova, A. V. Kochetov

    Published 2015-01-01
    “…Infection induces considerable changes at different levels: molecular-genetic, biochemical, physiological, and morphological. …”
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    Generation of American mink induced pluripotent stem cells: a protocol by I. E. Pristyazhnyuk, A. G. Menzorov

    Published 2017-11-01
    “…Shinya Yamanaka produced induced pluripotent stem (iPS) cells from mouse fibroblasts by the use of just four transcription factors in 2006: Oct4, Klf4, Sox2, and c-Myc. …”
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