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  1. AU="Gentile, Giulia"
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  1. Article: Translational Medicine in Neurological Disorders: A Genomic Perspective.

    Gentile, Giulia / Cavallaro, Sebastiano

    Current genomics

    2019  Volume 20, Issue 3, Page(s) 151–153

    Language English
    Publishing date 2019-10-18
    Publishing country United Arab Emirates
    Document type Editorial
    ZDB-ID 2033677-9
    ISSN 1875-5488 ; 1389-2029
    ISSN (online) 1875-5488
    ISSN 1389-2029
    DOI 10.2174/138920292003190704143857
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Editorial: Copy Number Variants in Neurological Disorder.

    Gentile, Giulia / Cavallaro, Sebastiano

    Current genomics

    2018  Volume 19, Issue 6, Page(s) 411

    Language English
    Publishing date 2018-09-14
    Publishing country United Arab Emirates
    Document type Editorial
    ZDB-ID 2033677-9
    ISSN 1875-5488 ; 1389-2029
    ISSN (online) 1875-5488
    ISSN 1389-2029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The contribution of CNVs to the most common aging-related neurodegenerative diseases.

    Gentile, Giulia / La Cognata, Valentina / Cavallaro, Sebastiano

    Aging clinical and experimental research

    2020  Volume 33, Issue 5, Page(s) 1187–1195

    Abstract: Alzheimer and Parkinson's diseases are neurodegenerative aging-related pathological conditions, mainly caused by the interplay of genetic and non-genetic factors and whose incidence rate is going to drastically increase given the growing life expectancy. ...

    Abstract Alzheimer and Parkinson's diseases are neurodegenerative aging-related pathological conditions, mainly caused by the interplay of genetic and non-genetic factors and whose incidence rate is going to drastically increase given the growing life expectancy. To address these complex multifactorial traits, a systems biology strategy is needed to highlight genotype-phenotype correlations as well as overlapping gene signatures. Copy number variants (CNVs) are structural chromosomal imbalances that can have pathogenic nature causing or contributing to the disease onset or progression. Moreover, neurons affected by CNVs have been found to decline in number depending on age in healthy controls and may be selectively vulnerable to aging-related cell-death. In this review, we aim to update the reader on the role of these variations in the pathogenesis of Alzheimer and Parkinson diseases. To widen the comprehension of pathogenic mechanisms underlying them, we discuss variations detected from blood or brain specimens, as well as overlapped signatures between the two pathologies.
    MeSH term(s) Aging/genetics ; Brain ; DNA Copy Number Variations ; Humans ; Neurodegenerative Diseases/genetics ; Parkinson Disease/genetics
    Language English
    Publishing date 2020-02-06
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 2104785-6
    ISSN 1720-8319 ; 1594-0667
    ISSN (online) 1720-8319
    ISSN 1594-0667
    DOI 10.1007/s40520-020-01485-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases.

    Gentile, Giulia / Morello, Giovanna / La Cognata, Valentina / Guarnaccia, Maria / Conforti, Francesca Luisa / Cavallaro, Sebastiano

    Journal of personalized medicine

    2022  Volume 12, Issue 5

    Abstract: Alzheimer's disease (AD), Parkinson's disease (PD), and Amyotrophic Lateral Sclerosis (ALS) are representative neurodegenerative diseases (NDs) characterized by degeneration of selective neurons, as well as the lack of effective biomarkers and ... ...

    Abstract Alzheimer's disease (AD), Parkinson's disease (PD), and Amyotrophic Lateral Sclerosis (ALS) are representative neurodegenerative diseases (NDs) characterized by degeneration of selective neurons, as well as the lack of effective biomarkers and therapeutic treatments. In the last decade, microRNAs (miRNAs) have gained considerable interest in diagnostics and therapy of NDs, owing to their aberrant expression and their ability to target multiple molecules and pathways. Here, we provide an overview of dysregulated miRNAs in fluids (blood or cerebrospinal fluid) and nervous tissue of AD, PD, and ALS patients. By emphasizing those that are commonly dysregulated in these NDs, we highlight their potential role as biomarkers or therapeutical targets and describe the use of antisense oligonucleotides as miRNA therapies.
    Language English
    Publishing date 2022-05-10
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662248-8
    ISSN 2075-4426
    ISSN 2075-4426
    DOI 10.3390/jpm12050770
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Filamin A cooperates with the androgen receptor in preventing skeletal muscle senescence.

    Di Donato, Marzia / Moretti, Antimo / Sorrentino, Carmela / Toro, Giuseppe / Gentile, Giulia / Iolascon, Giovanni / Castoria, Gabriella / Migliaccio, Antimo

    Cell death discovery

    2023  Volume 9, Issue 1, Page(s) 437

    Abstract: Aging induces a slow and progressive decrease in muscle mass and function, causing sarcopenia. Androgens control muscle trophism and exert important anabolic functions through the binding to the androgen receptor. Therefore, analysis of the androgen ... ...

    Abstract Aging induces a slow and progressive decrease in muscle mass and function, causing sarcopenia. Androgens control muscle trophism and exert important anabolic functions through the binding to the androgen receptor. Therefore, analysis of the androgen receptor-mediated actions in skeletal muscle might provide new hints for a better understanding of sarcopenia pathogenesis. In this study, we report that expression of the androgen receptor in skeletal muscle biopsies from 20 subjects is higher in young, as compared with old subjects. Co-immunoprecipitation experiments reveal that the androgen receptor is complexed with filamin A mainly in young, that in old subjects. Therefore, we have in depth analyzed the role of such complex using C2C12 myoblasts that express a significant amount of the androgen receptor. In these cells, hormone stimulation rapidly triggers the assembly of the androgen receptor/filamin A complex. Such complex prevents the senescence induced by oxidative stress in C2C12 cells, as disruption of the androgen receptor/filamin A complex by Rh-2025u stapled peptide re-establishes the senescent phenotype in C2C12 cells. Simultaneously, androgen stimulation of C2C12 cells rapidly triggers the activation of various signaling effectors, including Rac1, focal adhesion kinase, and mitogen-activated kinases. Androgen receptor blockade by bicalutamide or perturbation of androgen receptor/filamin A complex by Rh-2025u stapled peptide both reverse the hormone activation of signaling effectors. These findings further reinforce the role of the androgen receptor and its extranuclear partners in the rapid hormone signaling that controls the functions of C2C12 cells. Further investigations are needed to promote clinical interventions that might ameliorate muscle cell function as well the clinical outcome of age-related frailty.
    Language English
    Publishing date 2023-12-02
    Publishing country United States
    Document type Journal Article
    ISSN 2058-7716
    ISSN 2058-7716
    DOI 10.1038/s41420-023-01737-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Body Image and Psychological Impact of Dental Appearance in Adolescents with Malocclusion: A Preliminary Exploratory Study.

    Sicari, Federica / Merlo, Emanuele Maria / Gentile, Giulia / Nucera, Riccardo / Portelli, Marco / Settineri, Salvatore / Myles, Liam Alexander MacKenzie / Militi, Angela

    Children (Basel, Switzerland)

    2023  Volume 10, Issue 10

    Abstract: Background: Body image and psychosocial functioning represent central challenges during adolescence and early adulthood. Malocclusion, defined as an irregularity in the alignment of the teeth, is known to negatively influence psychological outcomes. The ...

    Abstract Background: Body image and psychosocial functioning represent central challenges during adolescence and early adulthood. Malocclusion, defined as an irregularity in the alignment of the teeth, is known to negatively influence psychological outcomes. The current study aimed to elucidate the role of malocclusion, together with age, gender, and dental class, in body image and psychological functioning.
    Methods: A total of 126 participants aged from 12 to 19 years old (mean: 15.87, SD: 2.35, female participants: 52.4%, male participants: 47.6%) were recruited. Participants were visited at the University Hospital of Messina, Italy, and completed a sociodemographic questionnaire, the Body Image Concern Inventory (I-BICI), and the Psychosocial Impact of Dental Aesthetics Questionnaire (PIDAQ).
    Results: Significant correlations were found between age, dental class, the BICI, and the PIDAQ. In particular, age showed a positive and significant correlation with PIDAQ-total score. The correlations between occlusal status and the BICI variables were all significant and positive. All correlations between occlusal status and the PIDAQ variables were all significant and positive, except for dental self-confidence. The correlations between the variables of the PIDAQ and BICI instruments were all significant and positive, except for dental self-confidence, where the directions were significant and negative. Moreover, age, gender, and occlusal status predicted BICI and PIDAQ scores. Age was a positive predictor for PIDAQ self-confidence, gender for BICI and PIDAQ total scores, along with dysmorphic symptoms, social impact, psychological impact, and aesthetic concerns. Several significant gender differences were highlighted by the analyses, with higher scores in the female group on all the BICI variables, except symptom interference, and all the PIDAQ variables, except dental self-confidence.
    Conclusions: Malocclusion appeared to play a central role in the psychological, representational, and psychosocial life of the participants. This research suggests that malocclusion and dental issues influence the psychological, representational, and psychosocial life of adolescents. Further research is required to examine the psychological impact of dental problems.
    Language English
    Publishing date 2023-10-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children10101691
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions.

    La Cognata, Valentina / Gentile, Giulia / Aronica, Eleonora / Cavallaro, Sebastiano

    Cells

    2020  Volume 9, Issue 1

    Abstract: Splicing is a tightly orchestrated process by which the brain produces protein diversity over time and space. While this process specializes and diversifies neurons, its deregulation may be responsible for their selective degeneration. In amyotrophic ... ...

    Abstract Splicing is a tightly orchestrated process by which the brain produces protein diversity over time and space. While this process specializes and diversifies neurons, its deregulation may be responsible for their selective degeneration. In amyotrophic lateral sclerosis (ALS), splicing defects have been investigated at the singular gene level without considering the higher-order level, involving the entire splicing machinery. In this study, we analyzed the complete spectrum (396) of genes encoding splicing factors in the motor cortex (41) and spinal cord (40) samples from control and sporadic ALS (SALS) patients. A substantial number of genes (184) displayed significant expression changes in tissue types or disease states, were implicated in distinct splicing complexes and showed different topological hierarchical roles based on protein-protein interactions. The deregulation of one of these splicing factors has a central topological role, i.e., the transcription factor YBX1, which might also have an impact on stress granule formation, a pathological marker associated with ALS.
    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Brain/metabolism ; Brain/pathology ; Case-Control Studies ; Humans ; Neurons/metabolism ; Neurons/pathology ; Organ Specificity ; Protein Interaction Maps ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; Spinal Cord/metabolism ; Spinal Cord/pathology
    Chemical Substances RNA Splicing Factors
    Language English
    Publishing date 2020-01-08
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells9010159
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients

    Gentile, Giulia / Perrone, Benedetta / Morello, Giovanna / Simone, Isabella Laura / Andò, Sebastiano / Cavallaro, Sebastiano / Conforti, Francesca Luisa

    Genes. 2021 Nov. 23, v. 12, no. 12

    2021  

    Abstract: The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes ...

    Abstract The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes can vary. To date, no genetic protective factors located close to SOD1 have been associated with the mild progressive homozygous phenotype. Using Next Generation Sequencing (NGS), we characterized a small cohort of sporadic and familial p.D91A-SOD1 heterozygous (n = 2) or homozygous (n = 5) ALS patients, to reveal any additional contributing variant in 39 ALS-related genes. We detected unique sets of non-synonymous variants, four of which were of uncertain significance and several in untranslated regions of ALS-related genes. Our results supported an individual oligogenic background underlying both sporadic and familial p.D91A cases irrespective of their p.D91A mutant alleles. We suggest that a comprehensive genomic view of p.D91A-SOD1 ALS patients may be useful in identifying emerging variants and improving disease diagnosis as well as guiding precision medicine.
    Keywords amyotrophic lateral sclerosis ; disease diagnosis ; genomics ; heterozygosity ; homozygosity ; mutants ; phenotype ; precision medicine
    Language English
    Dates of publication 2021-1123
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12121843
    Database NAL-Catalogue (AGRICOLA)

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  9. Article: Tumor Growth in the High Frequency Medulloblastoma Mouse Model Ptch1

    Ceccarelli, Manuela / D'Andrea, Giorgio / Micheli, Laura / Gentile, Giulia / Cavallaro, Sebastiano / Merlino, Giuseppe / Papoff, Giuliana / Tirone, Felice

    Frontiers in oncology

    2021  Volume 11, Page(s) 692053

    Abstract: We have previously generated a mouse model ( ...

    Abstract We have previously generated a mouse model (
    Language English
    Publishing date 2021-07-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2021.692053
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Individual Oligogenic Background in p.D91A-

    Gentile, Giulia / Perrone, Benedetta / Morello, Giovanna / Simone, Isabella Laura / Andò, Sebastiano / Cavallaro, Sebastiano / Conforti, Francesca Luisa

    Genes

    2021  Volume 12, Issue 12

    Abstract: The p.D91A is one of the most common ALS- ... ...

    Abstract The p.D91A is one of the most common ALS-causing
    MeSH term(s) Adult ; Aged ; Alleles ; Amyotrophic Lateral Sclerosis/genetics ; Cohort Studies ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Phenotype ; Superoxide Dismutase-1/genetics
    Chemical Substances SOD1 protein, human ; Superoxide Dismutase-1 (EC 1.15.1.1)
    Language English
    Publishing date 2021-11-23
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12121843
    Database MEDical Literature Analysis and Retrieval System OnLINE

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