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  1. Article ; Online: Non‑synonymous polymorphisms in the

    Telles, Tanise Machado / May, Bruna Miers / Pimentel, Mauricio / Pereira, Bruna Letícia Da Silva / Andrades, Michael / Rohde, Luis Eduardo / Dos Santos, Kátia Gonçalves

    Experimental and therapeutic medicine

    2023  Volume 27, Issue 1, Page(s) 48

    Abstract: Sudden cardiac death (SCD) is an unpredictable and common mode of death in patients with heart failure (HF). Alterations in calcium handling may lead to malignant arrhythmias, resulting in SCD, and variants in calcium signaling-related genes have a ... ...

    Abstract Sudden cardiac death (SCD) is an unpredictable and common mode of death in patients with heart failure (HF). Alterations in calcium handling may lead to malignant arrhythmias, resulting in SCD, and variants in calcium signaling-related genes have a significant association with SCD. Therefore, the aim of the present retrospective cohort study was to investigate the association of Ser96Ala [histidine-rich calcium-binding protein (
    Language English
    Publishing date 2023-12-04
    Publishing country Greece
    Document type Journal Article
    ZDB-ID 2683844-8
    ISSN 1792-1015 ; 1792-0981
    ISSN (online) 1792-1015
    ISSN 1792-0981
    DOI 10.3892/etm.2023.12337
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Copy number variations in SPAST and ATL1 are rare among Brazilians.

    Fussiger, Helena / Pereira, Bruna Letícia da Silva / Padilha, Janice Pacheco Dias / Donis, Karina Carvalho / Siebert, Marina / Brusius-Facchin, Ana Carolina / Baldo, Guilherme / Saute, Jonas Alex Morales

    Clinical genetics

    2023  Volume 103, Issue 5, Page(s) 580–584

    Abstract: Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in SPAST and ATL1 and to ... ...

    Abstract Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in SPAST and ATL1 and to update the molecular epidemiology of HSP families in southern Brazil. A cohort study that included 95 Brazilian index cases with clinical suspicion of HSP was conducted between April 2011 and September 2022. Multiplex Ligation Dependent Probe Amplification (MLPA) was performed in 41 cases without defined diagnosis by different massive parallel sequencing techniques (MPS). Diagnosis was obtained in 57/95 (60%) index cases, 15/57 (26.3%) being SPG4. Most frequent autosomal recessive HSP subtypes were SPG7 followed by SPG11, SPG76 and cerebrotendinous xanthomatosis. No CNVs in SPAST and ATL1 were found. Copy number variations are rare among SPG4 and SPG3A families in Brazil. Considering the possibility of CNVs detection by specific algorithms with MPS data, we consider that this is likely the most cost-effective approach to investigate CNVs in these genes in low-risk populations, with MLPA being reserved as an orthogonal confirmatory test.
    MeSH term(s) Humans ; Brazil/epidemiology ; Cohort Studies ; DNA Copy Number Variations/genetics ; Mutation ; Proteins/genetics ; Spastic Paraplegia, Hereditary/epidemiology ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/diagnosis ; Spastin/genetics
    Chemical Substances Proteins ; SPAST protein, human (EC 5.6.1.1) ; Spastin (EC 3.6.4.3) ; SPG11 protein, human
    Language English
    Publishing date 2023-01-15
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14280
    Database MEDical Literature Analysis and Retrieval System OnLINE

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