Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …
spectrum disorder, and patients can present with severe behavioural alterations, including …
Multifarious functions of the fragile X mental retardation protein
JK Davis, K Broadie - Trends in Genetics, 2017 - cell.com
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD),
results from the loss of Fragile X mental retardation protein (FMRP). This …
results from the loss of Fragile X mental retardation protein (FMRP). This …
Editing the genome of hiPSC with CRISPR/Cas9: disease models
AR Bassett - Mammalian Genome, 2017 - Springer
The advent of human-induced pluripotent stem cell (hiPSC) technology has provided a
unique opportunity to establish cellular models of disease from individual patients, and to …
unique opportunity to establish cellular models of disease from individual patients, and to …
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism
J Nagy, J Kobolak, S Berzsenyi, Z Ábrahám… - Translational …, 2017 - nature.com
The aim of the present study was to establish an in vitro Kleefstra syndrome (KS) disease
model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an …
model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an …