Functional deficiencies in fragile X neurons derived from human embryonic stem cells

M Telias, L Kuznitsov-Yanovsky, M Segal… - Journal of …, 2015 - Soc Neuroscience
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is a
neurodevelopmental disorder caused by silencing of the FMR1 gene, which in FXS becomes …

[HTML][HTML] Transcriptomic Analysis of Human Fragile X Syndrome Neurons Reveals Neurite Outgrowth Modulation by the TGFβ/BMP Pathway

L Kuznitsov-Yanovsky, G Shapira, L Gildin… - International journal of …, 2022 - mdpi.com
Fragile X Syndrome (FXS) is the main genetic reason for intellectual disability and is caused
by the silencing of fragile X mental retardation protein (FMRP), an RNA-binding protein …

[HTML][HTML] Heterozygous APC germline mutations impart predisposition to colorectal cancer

L Preisler, A Habib, G Shapira, L Kuznitsov-Yanovsky… - Scientific reports, 2021 - nature.com
Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous
adenomatous polyposis coli (APC) germline mutation, associated with a profound lifetime …

[HTML][HTML] Impaired functional connectivity underlies fragile x syndrome

…, R Rauti, O Vardi, L Kuznitsov-Yanovsky… - International Journal of …, 2022 - mdpi.com
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is
caused by a developmentally regulated silencing of the FMR1 gene, but its effect on human …

Modeling FXS: Human pluripotent stem cells and in vitro neural differentiation

L Kuznitsov-Yanovsky, Y Mayshar… - Fragile-X Syndrome …, 2019 - Springer
In fragile X syndrome (FXS) embryos FMRP is widely expressed during early stages of
embryogenesis however it is inactivated by the end of the first trimester. In the same manner, …

[BOOK][B] Fragile-X Syndrome: Methods and Protocols

D Ben-Yosef, Y Mayshar - 2019 - Springer
This volume discusses the latest technologies used to study all aspects of Fragile-X
Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic …

Fragile-X Syndrome

D Ben-Yosef, Y Mayshar - Springer
Liron Kuznitsov-Yanovsky, Yoav Mayshar, and Dalit Ben-Yosef 9 Induced Neurons for the
Study of Neurodegenerative and Neurodevelopmental Disorders....................................... 101 …

Adenomatous polyposis coli as a major regulator of human embryonic stem cells self-renewal

L Preisler, D Ben-Yosef, Y Mayshar - Stem Cells, 2019 - academic.oup.com
Liron Kuznitsov-Yanovsky is thanked for assistance in data and image analysis. The clinical
and the embryology staff of the IVF-PGD unit in the fertility institute is thanked for its ongoing …

Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome

R Kashima, PL Redmond, P Ghatpande, S Roy… - Science …, 2017 - science.org
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and
autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective …

Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome

R Kashima, S Roy, M Ascano, V Martinez-Cerdeno… - Science …, 2016 - science.org
Epigenetic silencing of fragile X mental retardation 1 (FMR1) causes fragile X syndrome (FXS),
a common inherited form of intellectual disability and autism. FXS correlates with …