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  1. Artikel ; Online: Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.

    Bakhit, Yousuf / Ibrahim, Mohamed O / Tesson, Christelle / Elhassan, Ali A / Ahmed, Mohamed Anwer / Alebeed, Mohamed A / Elrasheed, Salma M / Omar, Mawia A / Abubaker, Rayan / Eltom, Khalid / Shaheen, Mutaz T / Ibrahim, Yousuf A / Almak, Murad E / Ali, Hiba A / Abugrain, Ahmed A / Almahal, Mohamed A / MohamedSharif, Abubaker A / Tahir, Mohamed Y / Malik, Sawazen M /
    Eldirdiri Abdelrahman, Hazim / Khidir, Reem J / Mohamed, Malaz T / Abdalla, Abdelmohaymin / Elsayed, Liena E O / Lesage, Suzanne / Corvol, Jean-Christophe / Seidi, Osheik / Wüllner, Ullrich

    Parkinsonism & related disorders

    2023  Band 111, Seite(n) 105401

    Abstract: PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, ... ...

    Abstract PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa. We investigated 14 individuals with parkinsonism and eleven symptom-free siblings from three consanguineous Sudanese families, two of them multigenerational, using a custom gene panel screening 34 genes, 27 risk variants, and 8 candidate genes associated with parkinsonism. We found a known pathogenic nonsense PINK1 variant (NM_032409.3:c.1366C>T; p.(Gln456*)), a novel pathogenic single base duplication (NM_032409.3:c.1597dup; p.(Gln533Profs*29)), and another novel pathogenic insertion (NM_032409.3:c.1448_1449ins[1429_1443; TTGAG]; p.(Arg483Serfs*7)). All variants were homozygous and co-segregated in all affected family members. We also identified intrafamilial and interfamilial phenotypic heterogeneity associated with PINK1 mutations in these Sudanese cases, possibly reflecting the nature of the Sudanese population that has a large effective population size, which suggests a higher possibility of novel findings in monogenic and polygenic diseases in Sudan.
    Mesh-Begriff(e) Humans ; Parkinson Disease/genetics ; Sudan ; Parkinsonian Disorders/genetics ; Homozygote ; Mutation/genetics ; Protein Kinases/genetics ; Age of Onset
    Chemische Substanzen Protein Kinases (EC 2.7.-)
    Sprache Englisch
    Erscheinungsdatum 2023-04-25
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105401
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Methylation of alpha-synuclein in a Sudanese cohort.

    Bakhit, Yousuf / Schmitt, Ina / Hamed, Ahlam / Ibrahim, Etedal Ahmed A / Mohamed, Inaam N / El-Sadig, Sarah M / Elseed, Maha A / Alebeed, Mohamed A / Shaheen, Mutaz T / Ibrahim, Mohamed O / Elhassan, Ali A / Eltom, Khalid / Ali, Hiba A / Ibrahim, Yousuf A / Almak, Murad E / Abubaker, Rayan / Ahmed, Mohamed Anwer / Abugrain, Ahmed A / Elrasheed, Salma M /
    Omar, Mawia A / Almahal, Mohamed A / MohamedSharif, Abubaker A / Tahir, Mohamed Y / Malik, Sawazen M / Eldirdiri, Hazim S / Khidir, Reem J / Mohamed, Malaz T / Abdalla, Abdelmohaymin / Omer, Farouk Yassen / Elsayed, Liena E O / Babikir, Haydar El Hadi / Bukhari, Elfateh Abd-Allah / Seidi, Osheik / Wüllner, Ullrich

    Parkinsonism & related disorders

    2022  Band 101, Seite(n) 6–8

    Abstract: Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies ... ...

    Abstract Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan.
    Materials and methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.6 ± 22.4 years). A family history of PD was evident in 64 patients. DNA preparation and bisulfite sequencing of SNCA
    Results: Of the fourteen analyzed CpGs of SNCA
    Conclusion: We identified the presence of a specific pattern of DNA methylation in a young Sudanese cohort of familial PD, which confirms the importance of the methylation of SNCA
    Mesh-Begriff(e) Adolescent ; Adult ; DNA ; DNA Methylation/genetics ; Epigenesis, Genetic ; Humans ; Middle Aged ; Parkinson Disease/genetics ; Young Adult ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism
    Chemische Substanzen SNCA protein, human ; alpha-Synuclein ; DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2022-06-04
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.05.009
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 4553: Hefte anzeigen Standort:
    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)
    Zs.MO 420: Hefte anzeigen

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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