Results 111 to 120 of about 28,343 (239)

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2018
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is also highly associated with autism spectrum disorders (ASD). It is caused by expansion of a CGG repeat sequence on the X chromosome resulting in silencing of the FMR1
Rachel M. Saré, Alex Song, Inna Loutaev, Anna Cook, Isabella Maita, Abigail Lemons, Carrie Sheeler, Carolyn B. Smith   +7 more
doaj   +1 more source

Statistical inference of transmission fidelity of DNA methylation patterns over somatic cell divisions in mammals

, 2010
We develop Bayesian inference methods for a recently-emerging type of epigenetic data to study the transmission fidelity of DNA methylation patterns over cell divisions.
Fu, Audrey Qiuyan, Genereux, Diane P., Laird, Charles D., Stephens, Matthew, Stöger, Reinhard   +4 more
core   +1 more source

FMR1 Premutation and Demyelinating Syndromes: Case or Causality? A Case Report [PDF]

, 2019
Stefania Federica De Mercanti
openalex   +1 more source

Πειραματικό πρότυπο Fmr1 KO

, 2022
ο σύνδρομο του εύθραυστου Χ (Fragile X Syndrome, FXS) είναι η κυρίαρχη μονογονιδιακή αιτία αυτισμού και νοητικής υστέρησης που προκαλείται από την έλλειψη της πρωτεΐνης FMRP. Η απουσία της κατά την ανάπτυξη και η αλληλεπίδρασή της με τη γλουταματεργική νευροδιαβίβαση φαίνεται να οδηγούν σε γνωστικά ελλείματα και απορρύθμιση της συναπτικής πλαστικότητας.
openaire   +1 more source

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk. [PDF]

, 2019
BackgroundThe development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being a multifactorial neurodevelopmental
Gu, Ran, Ji, Yu, Kumar, Santosh, Rai, Sunil, Reynolds, Kurt, Zhou, Chengji J   +5 more
core  

Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice

Molecular Autism
Background Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects.
Mehdi Hooshmandi, David Ho-Tieng, Kevin C. Lister, Weihua Cai, Calvin Wong, Nicole Brown, Jonathan Fan, Volodya Hovhannisyan, Sonali Uttam, Masha Prager-Khoutorsky, Nahum Sonenberg, Christos G. Gkogkas, Arkady Khoutorsky   +12 more
doaj   +1 more source

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice [PDF]

, 1995
Martin Hergersberg, Koichi Matsuo, Max Gassmann, Walter Schaffner, Bernhard Lüscher, Thomas Rülicke, Adriano Aguzzi   +6 more
openalex   +1 more source

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing [PDF]

, 2016
Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch   +7 more
openalex   +1 more source

Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP [PDF]

, 2015
Joshua A. Suhl, Stephen T. Warren
openalex   +1 more source