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  1. Article: Genetic Associations with Coronavirus Susceptibility and Disease Severity.

    Barmania, Fatima / Mellet, Juanita / Holborn, Megan A / Pepper, Michael S

    Advances in experimental medicine and biology

    2023  Volume 1412, Page(s) 119–140

    Abstract: The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is responsible for the coronavirus disease 2019 (COVID-19) global public health emergency, and the disease it causes is highly variable in its clinical presentation. Host genetic factors ... ...

    Abstract The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is responsible for the coronavirus disease 2019 (COVID-19) global public health emergency, and the disease it causes is highly variable in its clinical presentation. Host genetic factors are increasingly recognised as a determinant of infection susceptibility and disease severity. Several initiatives and groups have been established to analyse and review host genetic epidemiology associated with COVID-19 outcomes. Here, we review the genetic loci associated with COVID-19 susceptibility and severity focusing on the common variants identified in genome-wide association studies.
    MeSH term(s) Humans ; COVID-19/epidemiology ; COVID-19/genetics ; SARS-CoV-2/genetics ; Genome-Wide Association Study ; Middle East Respiratory Syndrome Coronavirus ; Patient Acuity ; Genetic Predisposition to Disease
    Language English
    Publishing date 2023-06-28
    Publishing country United States
    Document type Review ; Journal Article
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-3-031-28012-2_6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: SARS-CoV-2 Variants, Vaccines, and Host Immunity.

    Mistry, Priyal / Barmania, Fatima / Mellet, Juanita / Peta, Kimberly / Strydom, Adéle / Viljoen, Ignatius M / James, William / Gordon, Siamon / Pepper, Michael S

    Frontiers in immunology

    2022  Volume 12, Page(s) 809244

    Abstract: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new beta coronavirus that emerged at the end of 2019 in the Hubei province of China. SARS-CoV-2 causes coronavirus disease 2019 (COVID-19) and was declared a pandemic by the World Health ... ...

    Abstract Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new beta coronavirus that emerged at the end of 2019 in the Hubei province of China. SARS-CoV-2 causes coronavirus disease 2019 (COVID-19) and was declared a pandemic by the World Health Organization (WHO) on 11 March 2020. Herd or community immunity has been proposed as a strategy to protect the vulnerable, and can be established through immunity from past infection or vaccination. Whether SARS-CoV-2 infection results in the development of a reservoir of resilient memory cells is under investigation. Vaccines have been developed at an unprecedented rate and 7 408 870 760 vaccine doses have been administered worldwide. Recently emerged SARS-CoV-2 variants are more transmissible with a reduced sensitivity to immune mechanisms. This is due to the presence of amino acid substitutions in the spike protein, which confer a selective advantage. The emergence of variants therefore poses a risk for vaccine effectiveness and long-term immunity, and it is crucial therefore to determine the effectiveness of vaccines against currently circulating variants. Here we review both SARS-CoV-2-induced host immune activation and vaccine-induced immune responses, highlighting the responses of immune memory cells that are key indicators of host immunity. We further discuss how variants emerge and the currently circulating variants of concern (VOC), with particular focus on implications for vaccine effectiveness. Finally, we describe new antibody treatments and future vaccine approaches that will be important as we navigate through the COVID-19 pandemic.
    MeSH term(s) COVID-19/genetics ; COVID-19/immunology ; COVID-19/prevention & control ; COVID-19 Vaccines/genetics ; COVID-19 Vaccines/immunology ; COVID-19 Vaccines/therapeutic use ; Humans ; Immunologic Memory ; Pandemics/prevention & control ; SARS-CoV-2/genetics ; SARS-CoV-2/immunology
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2022-01-03
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2021.809244
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: C-C chemokine receptor type five (CCR5): An emerging target for the control of HIV infection.

    Barmania, Fatima / Pepper, Michael S

    Applied & translational genomics

    2013  Volume 2, Page(s) 3–16

    Abstract: When HIV was initially discovered as the causative agent of AIDS, many expected to find a vaccine within a few years. This has however proven to be elusive; it has been approximately 30 years since HIV was first discovered, and a suitable vaccine is ... ...

    Abstract When HIV was initially discovered as the causative agent of AIDS, many expected to find a vaccine within a few years. This has however proven to be elusive; it has been approximately 30 years since HIV was first discovered, and a suitable vaccine is still not in effect. In 2009, a paper published by Hutter et al. reported on a bone marrow transplant performed on an HIV positive individual using stem cells that were derived from a donor who was homozygous for a mutation in the CCR5 gene known as CCR5 delta-32 (Δ32) (Hütter et al., 2009). The HIV positive individual became HIV negative and remained free of viral detection after transplantation despite having halted anti-retroviral (ARV) treatment. This review will focus on CCR5 as a key component in HIV immunity and will discuss the role of CCR5 in the control of HIV infection.
    Language English
    Publishing date 2013-05-26
    Publishing country Netherlands
    Document type Review ; Journal Article
    ZDB-ID 2676672-3
    ISSN 2212-0661
    ISSN 2212-0661
    DOI 10.1016/j.atg.2013.05.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Coronavirus Host Genetics South Africa (COHG-SA) database-a variant database for gene regions associated with SARS-CoV-2 outcomes.

    Barmania, Fatima / Mellet, Juanita / Ryder, Megan A / Ford, Graeme / Herd, Candice L / Tamuhla, Tsaone / Hendricks, Candice / Giles, Rachel / Kalua, Thumbiko / Joubert, Fourie / Tiffin, Nicki / Pepper, Michael S

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 8, Page(s) 880–888

    Abstract: The SARS-CoV-2 virus is responsible for the COVID-19 global public health emergency, and the disease it causes is highly variable in its clinical presentation. Clinical phenotypes are heterogeneous both in terms of presentation of symptoms in the host ... ...

    Abstract The SARS-CoV-2 virus is responsible for the COVID-19 global public health emergency, and the disease it causes is highly variable in its clinical presentation. Clinical phenotypes are heterogeneous both in terms of presentation of symptoms in the host and response to therapy. Several studies and initiatives have been established to analyse and review host genetic epidemiology associated with COVID-19. Our research group curated these articles into a web-based database using the python application-server framework Django. The database provides a searchable research tool describing current literature surrounding COVID-19 host genetic factors associated with disease outcome. This paper describes the COHG-SA database and provides an overview of the analyses that can be derived from these data.
    MeSH term(s) COVID-19/genetics ; Humans ; SARS-CoV-2 ; South Africa
    Language English
    Publishing date 2022-03-29
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01089-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals.

    Barmania, Fatima / Potgieter, Marnie / Pepper, Michael S

    International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

    2013  Volume 17, Issue 12, Page(s) e1148–53

    Abstract: Background: The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely ...

    Abstract Background: The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely resistant to HIV infection. Heterozygous individuals display decreased cell surface CCR5, which slows disease progression. Phenotypic expression of CCR5 is heterogeneous and its relation to genetic mutations in the CCR5 gene is not currently known for the South African population. This provided the rationale for investigating genetic variation in low CCR5 expressers in South Africa.
    Methods: Flow cytometry was used to measure the phenotypic distribution of CCR5 in 245 individuals by assessing both the percentage of CD4+CCR5+ T-cells and CCR5 density.
    Results: Genotypic data revealed 70 single nucleotide polymorphisms (SNPs), four insertions, and the Δ32 deletion within the 65 individuals selected for sequencing. The Δ32 mutation was detected only in the Caucasian group and included a single homozygous individual with an absence of CCR5 expression. A total of eight previously described open reading frame (ORF) mutations were found in this study, as well as 12 novel mutations with two in the ORF. Greater genetic diversity was present in the black South African group, with 39 mutations being exclusive to this group.
    Conclusions: Using a unique approach to genotype in individuals with lower CCR5 expression we have identified novel SNPs which could affect HIV infection.
    MeSH term(s) 3' Flanking Region ; 5' Flanking Region ; African Continental Ancestry Group/genetics ; Alleles ; CD4-Positive T-Lymphocytes/metabolism ; European Continental Ancestry Group/genetics ; Exons ; Gene Frequency ; Genotype ; HIV Infections/genetics ; Humans ; Immunophenotyping ; Introns ; Mutation ; Open Reading Frames ; Phenotype ; Polymorphism, Single Nucleotide ; Receptors, CCR5/genetics ; Receptors, CCR5/metabolism ; South Africa
    Chemical Substances Receptors, CCR5
    Language English
    Publishing date 2013-12
    Publishing country Canada
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1331197-9
    ISSN 1878-3511 ; 1201-9712
    ISSN (online) 1878-3511
    ISSN 1201-9712
    DOI 10.1016/j.ijid.2013.06.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4516: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article: Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals

    Barmania, Fatima / Potgieter, Marnie / Pepper, Michael S

    International journal of infectious diseases. 2013 Dec., v. 17, no. 12

    2013  

    Abstract: BACKGROUND: The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely ... ...

    Abstract BACKGROUND: The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely resistant to HIV infection. Heterozygous individuals display decreased cell surface CCR5, which slows disease progression. Phenotypic expression of CCR5 is heterogeneous and its relation to genetic mutations in the CCR5 gene is not currently known for the South African population. This provided the rationale for investigating genetic variation in low CCR5 expressers in South Africa. METHODS: Flow cytometry was used to measure the phenotypic distribution of CCR5 in 245 individuals by assessing both the percentage of CD4+CCR5+ T-cells and CCR5 density. RESULTS: Genotypic data revealed 70 single nucleotide polymorphisms (SNPs), four insertions, and the Δ32 deletion within the 65 individuals selected for sequencing. The Δ32 mutation was detected only in the Caucasian group and included a single homozygous individual with an absence of CCR5 expression. A total of eight previously described open reading frame (ORF) mutations were found in this study, as well as 12 novel mutations with two in the ORF. Greater genetic diversity was present in the black South African group, with 39 mutations being exclusive to this group. CONCLUSIONS: Using a unique approach to genotype in individuals with lower CCR5 expression we have identified novel SNPs which could affect HIV infection.
    Keywords CCR5 receptor ; HIV infections ; Human immunodeficiency virus ; T-lymphocytes ; alleles ; disease course ; flow cytometry ; genetic variation ; heterozygosity ; homozygosity ; open reading frames ; single nucleotide polymorphism ; South Africa
    Language English
    Dates of publication 2013-12
    Size p. e1148-e1153.
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 1331197-9
    ISSN 1878-3511 ; 1201-9712
    ISSN (online) 1878-3511
    ISSN 1201-9712
    DOI 10.1016/j.ijid.2013.06.009
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4516: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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