Towards Mechanism-based Treatments for Fragile X Syndrome

It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still r...

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Detaylı Bibliyografya
Asıl Yazarlar:	Kumari, Daman, Gazy, Inbal
Materyal Türü:	Online
Dil:	İngilizce
Baskı/Yayın Bilgisi:	MDPI - Multidisciplinary Digital Publishing Institute 2021
Konular:	QH301-705.5 Q1-390 n/a lymphoblast pluripotent stem cells FMR1 Gene editing X chromosome Fmr1 epigenetic gene silencing FMR1 gene Fragile X syndrome 1 repeat instability characteristics that have the greatest impact DNA instability working memory language development mosaicism CRISPR 3 clinical trials autism spectrum disorders Fmr1 KO mouse automated vocal analysis base excision repair (BER) inhibitory control cerebral spinal fluid iPSC drug development targeted treatments molecular biomarkers viral vector avoidance biomarker set-shifting early identification expansion anxiety planning voice of the person mismatch repair (MMR) gene reactivation double-strand break repair (DSBR) newborn screening intellectual disability processing speed voice of the patient fragile X syndrome adeno-associated virus neurodevelopmental disorders histone methylation Non-homologous end-joining (NHEJ) ASD Fxr2 Fragile X-associated Tremor/Ataxia Syndrome 2 Trinucleotide Repeat 4 CGG Repeat Expansion Disease DNA methylation contraction fragile X mental retardation protein RNA:DNA hybrid behavior developmental disorders cognition females FMRP Fragile X Syndrome unstable repeat diseases protein synthesis brain cognitive flexibility treatment development fibroblast PRC2 transcription coupled repair (TCR) best practices attention Fragile X executive function thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
Online Erişim:	42526
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Towards Mechanism-based Treatments for Fragile X Syndrome

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