Results 61 to 70 of about 206,873 (358)

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

Advanced Science, EarlyView.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold   +8 more
wiley   +1 more source

Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome [PDF]

Kosin Medical Journal, 2017
We report a case of Spontaneous coronary artery dissection associated with fragile X syndrome. The relationship between fragile X syndrome and Spontaneous coronary artery dissection is unclear.
Hyun-Young Park, Jin-Man Cho, Dong-Hee Kim, Chang-Bum Park, Chong-Jin Kim   +4 more
doaj   +1 more source

Closing the Gender Gap in Fragile X Syndrome: Review of Females with Fragile X Syndrome and Preliminary Research Findings

Brain Science, 2019
Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females.
Kristi L. Bartholomay, C. H. Lee, J. Bruno, A. Lightbody, A. Reiss   +4 more
semanticscholar   +1 more source

Self-injurious behaviour in individuals with autism spectrum disorder [PDF]

, 2012
Background: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals ...
Moss, J, Nelson, L, Oliver, C, Richards, C   +3 more
core  

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders.

Annual Review of Medicine, 2019
Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients ...
I. Gantois, J. Popić, A. Khoutorsky, N. Sonenberg   +3 more
semanticscholar   +1 more source

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population [PDF]

, 2013
Article focus▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population.
Anderson, V., Archibald, A., Carter, R., Cohen, J., Delatycki, M., Donath, S., Emery, J., Halliday, J., Hill, M., Martyn, M., Metcalfe, S., Sheffield, L., Slater, H., Tassone, F., Younie, S.   +14 more
core   +1 more source

A Machine‐Learning Approach Identifies Rejuvenating Interventions in the Human Brain

Advanced Science, EarlyView.
Rising life expectancy increases the incidence of age‐related neurodegeneration. Reverting brain aging through effective rejuvenation strategies constitutes a promising strategy to counteract these disorders and restore brain function. This study uses a brain‐specific transcriptional aging clock to screen over 43 000 perturbation profiles, identifying ...
Guillem Santamaria, Cristina Iglesias, Sascha Jung, Javier Arcos Hodar, Ruben Nogueiras, Antonio del Sol   +5 more
wiley   +1 more source

Fragile X Syndrome

Journal of Health Science and Medical Research (JHSMR), 2012
Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%.
Ninlapa Pruksanusak, Pornprot Limprasert
doaj