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  1. Article ; Online: Lupus nephritis: A focus on the United Arab Emirates and the potential role of genetics.

    Tabouni, Mohammed / Ali, Amanat / Aljaberi, Najla / Alblooshi, Hiba

    Lupus

    2022  Volume 31, Issue 12, Page(s) 1415–1422

    Abstract: Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE), characterized by chronic and progressive inflammation of the kidneys. As with many other autoimmune diseases, LN is a multifactorial disease caused by genetic and ... ...

    Abstract Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE), characterized by chronic and progressive inflammation of the kidneys. As with many other autoimmune diseases, LN is a multifactorial disease caused by genetic and environmental factors. Globally, LN can affect around 60% of SLE patients, and it was observed to be less frequent and severe in Caucasian patients compared to other ethnic groups, including Arabs. Data on LN in the United Arab Emirates (UAE) are scattered and scarce in literature. Nevertheless, LN is common, occurring in around 43%-55% of SLE patients in the UAE. Anecdotally, the demographics and clinical features of SLE in the UAE have been distinct. However, the paucity of supporting literature makes it difficult to draw meaningful conclusions. Over the past two decades, there have been improvements in understanding the pathogenesis of LN; however, many cellular and molecular mechanisms which are implicated in the disease development and progression remain ambiguous. Investigating the clinical, pathological, and genetic characteristics of LN in different cohorts of patients is of importance for a better understanding of its pathogenesis, and thus improving its outcome. As a result, we acknowledge the need for large-scale epidemiological, clinical, and genetic investigation of LN cohorts in the UAE and surrounding regions.
    MeSH term(s) Arabs ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis/epidemiology ; Lupus Nephritis/genetics ; United Arab Emirates/epidemiology ; Whites
    Language English
    Publishing date 2022-08-26
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1154407-7
    ISSN 1477-0962 ; 0961-2033
    ISSN (online) 1477-0962
    ISSN 0961-2033
    DOI 10.1177/09612033221122982
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Spectrum of genetic variants in bilateral sensorineural hearing loss.

    Ali, Amanat / Tabouni, Mohammed / Kizhakkedath, Praseetha / Baydoun, Ibrahim / Allam, Mushal / John, Anne / Busafared, Faiza / Alnuaimi, Ayesha / Al-Jasmi, Fatma / Alblooshi, Hiba

    Frontiers in genetics

    2024  Volume 15, Page(s) 1314535

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2024-02-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2024.1314535
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Case report: Birk-Landau-Perez syndrome linked to the

    Kizhakkedath, Praseetha / AlDhaheri, Watfa / Baydoun, Ibrahim / Tabouni, Mohammed / John, Anne / Almansoori, Taleb M / Al-Turki, Saeed / Al-Jasmi, Fatma / Alblooshi, Hiba

    Frontiers in genetics

    2023  Volume 14, Page(s) 1219514

    Abstract: Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in ... ...

    Abstract Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the
    Language English
    Publishing date 2023-07-27
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1219514
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Novel compound heterozygous variants (c.971delA/c.542C > T) in

    Mohamed, Feda E / Ghattas, Mohammad A / Almansoori, Taleb M / Tabouni, Mohammed / Baydoun, Ibrahim / Kizhakkedath, Praseetha / John, Anne / Alblooshi, Hiba / Shaukat, Qudsia / Al-Jasmi, Fatma

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1183574

    Abstract: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked ... ...

    Abstract Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to
    Language English
    Publishing date 2023-07-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1183574
    Database MEDical Literature Analysis and Retrieval System OnLINE

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