DNA-Hydroxymethylierung bei nicht-kodierenden Repeat-Expansionsstörungen

DNA-Hydroxymethylierung bei nicht-kodierenden Repeat-Expansionsstörungen

Rustam Esanov

81,42 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2024
Materia
Genética (no médica)
ISBN:
9786208407063
81,42 €
IVA incluido
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Meine Forschung konzentriert sich auf die Repeat-Expansionsstörungen, eine Gruppe von Störungen, die durch die sich wiederholende Mikrosatelliten-Sequenz innerhalb des Gens verursacht werden. In dieser Arbeit werden insbesondere zwei nicht-kodierende Wiederholungs-Expansionsstörungen untersucht: die C9orf72-assoziierte amyotrophe Lateralsklerose (C9-ALS) und das Fragile-X-Syndrom (FXS). Unsere Gruppe war die erste, die das Vorhandensein von 5-Hydroxymethylcytosin, einer neuen epigenetischen Markierung und aktiven DNA-Demethylierungszwischenstufe, an den expandierten Loci von Patienten mit C9-ALS und FXS berichtete.

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