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Showing 1-20 of 30 results
  1. Possible implication of miR-142-3p in coronary microembolization induced myocardial injury via ATXN1L/HDAC3/NOL3 axis

    Abstract

    This study aims to explore the mechanism underlying miR-142-3p regulating myocardial injury induced by coronary microembolization (CME)...

    Yuli Xu, **angwei Lv, ... Qiang Su in Journal of Molecular Medicine
    Article 12 April 2022
  2. Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma

    CIC -rearranged sarcomas are newly defined undifferentiated soft tissue tumors with CIC- associated fusions, and dismal prognosis. CIC fusions activate...

    Feng Xu, Angela N. Viaene, ... Phillip B. Storm in Acta Neuropathologica Communications
    Article Open access 14 July 2022
  3. Functional implications of paralog genes in polyglutamine spinocerebellar ataxias

    Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal dominant neurodegenerative disorders caused by (CAG/CAA) n ...

    Daniela Felício, Tanguy Rubat du Mérac, ... Sandra Martins in Human Genetics
    Article Open access 16 October 2023
  4. MicroRNA-136-5p protects cardiomyocytes from coronary microembolization through the inhibition of pyroptosis

    This study investigated how miR-136-5p partially affected cardiomyocyte pyroptosis in rats with coronary microembolization (CME). The cardiac...

    Ru** Cai, Yuli Xu, ... Qiang Su in Apoptosis
    Article 27 January 2022
  5. CIC reduces xCT/SLC7A11 expression and glutamate release in glioma

    Capicua (CIC) is an important downstream molecule of RTK/RAS/MAPK pathway. The regulatory mechanism of CIC underlying tumorigenesis in...

    Jong-Whi Park, Omer Kilic, ... Åževin Turcan in Acta Neuropathologica Communications
    Article Open access 16 January 2023
  6. Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain

    RNA interference (RNAi) for spinocerebellar ataxia type 1 can prevent and reverse behavioral deficits and neuropathological readouts in mouse models,...

    Megan S. Keiser, Paul T. Ranum, ... Beverly L. Davidson in Nature Medicine
    Article 18 October 2021
  7. Regulation and function of capicua in mammals

    Capicua (CIC) is an evolutionarily conserved transcription factor. CIC contains a high-mobility group (HMG) box that recognizes specific DNA...

    Article Open access 01 April 2020
  8. ATXN1 N-terminal region explains the binding differences of wild-type and expanded forms

    Background

    Wild-type (wt) polyglutamine (polyQ) regions are implicated in stabilization of protein-protein interactions (PPI). Pathological polyQ...

    Sara Rocha, Jorge Vieira, ... Cristina P. Vieira in BMC Medical Genomics
    Article Open access 26 October 2019
  9. Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes

    Background

    Rare oncogenic driver events, particularly affecting the expression or splicing of driver genes, are suspected to substantially contribute...

    Xueqi Cao, Sandra Huber, ... Julien Gagneur in Genome Medicine
    Article Open access 20 May 2024
  10. Correction to: Evolutionarily novel genes are expressed in transgenic fish tumors and their orthologs are involved in development of progressive traits in humans

    The original publication of this article [1] contained 4 errors in column 1 of Table 4. In this correction article the errors and updated table are...

    E. A. Matyunina, A. V. Emelyanov, ... A. P. Kozlov in Infectious Agents and Cancer
    Article Open access 27 January 2020
  11. Comprehensive profiling and characterization of cellular microRNAs in response to coxsackievirus A10 infection in bronchial epithelial cells

    Coxsackievirus A10 (CV-A10), the causative agent of hand, foot, and mouth disease (HFMD), caused a series of outbreaks in recent years and often...

    Yajie Hu, Lan Wang, ... Yunhui Zhang in Virology Journal
    Article Open access 21 July 2022
  12. Adeno-associated virus vectors and neurotoxicity—lessons from preclinical and human studies

    Over 15 years after hepatotoxicity was first observed following administration of an adeno-associated virus (AAV) vector during a hemophilia B...

    Daniel Stone, Martine Aubert, Keith R. Jerome in Gene Therapy
    Article 10 May 2023
  13. Extracellular Vesicles Isolated from Human Induced Pluripotent Stem Cell-Derived Neurons Contain a Transcriptional Network

    Healthy brain function is mediated by several complementary signalling pathways, many of which are driven by extracellular vesicles (EVs). EVs are...

    David A. Hicks, Alys C. Jones, ... Nigel M. Hooper in Neurochemical Research
    Article Open access 02 May 2020
  14. Molecular Mechanisms of Spinocerebellar Ataxia Type 1

    Abstract

    Polyglutamine (polyQ) disorders are severe forms of inherited neurodegenerative pathologies caused by the expansion of CAG repeats in...

    E. A. Volovikov, A. V. Davidenko, M. A. Lagarkova in Russian Journal of Genetics
    Article 01 February 2020
  15. Evolutionarily novel genes are expressed in transgenic fish tumors and their orthologs are involved in development of progressive traits in humans

    Abstract

    Earlier we suggested a new hypothesis of the possible evolutionary role of hereditary tumors (Kozlov, Evolution by tumor...

    E. A. Matyunina, A. V. Emelyanov, ... A. P. Kozlov in Infectious Agents and Cancer
    Article Open access 05 December 2019
  16. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

    Selection and prioritization of phenotype-centric variants remains a challenging part of variant analysis and interpretation in clinical exome...

    Swati Tomar, Raman Sethi, Poh San Lai in European Journal of Human Genetics
    Article 03 May 2019
  17. DNA methylome profiling of all-cause mortality in comparison with age-associated methylation patterns

    Background

    Multiple epigenome-wide association studies have been performed to identify DNA methylation patterns regulated by aging or correlated with...

    Jesper Beltoft Lund, Shuxia Li, ... Qihua Tan in Clinical Epigenetics
    Article Open access 08 February 2019
  18. Development and validation of GMI signature based random survival forest prognosis model to predict clinical outcome in acute myeloid leukemia

    Background

    Acute myeloid leukemia (AML) is a disease with marked molecular heterogeneity and a high early death rate. Our aim was to investigate an...

    Mingguang Shi, Guofu Xu in BMC Medical Genomics
    Article Open access 26 June 2019
  19. Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

    Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct...

    Hsiang-Chih Lu, Qiumin Tan, ... Huda Y Zoghbi in Nature Genetics
    Article 13 March 2017
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