Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a loss-of-function mutation by a CGG repeat expansion at the 5′ untranslated region of the X-linked fragile X mental retardation 1 (FMR1) gene. Expansion of the CGG repeats beyond 200 copies results i...

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Bibliographic Details
Main Authors: Hagar Mor-Shaked, Rachel Eiges
Format: Article
Language:English
Published: MDPI AG 2016-09-01
Series:Genes
Subjects:
fragile X syndrome
FMR1 gene
FMRP
human embryonic stem cells
disease modeling
patient-derived iPS cells
epigenetics
repeat somatic instability
neurodevelopment
Online Access:http://www.mdpi.com/2073-4425/7/10/77

Internet

http://www.mdpi.com/2073-4425/7/10/77

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