Results 81 to 90 of about 19,643 (207)

Homeostatic Intrinsic Plasticity Is Functionally Altered in Fmr1 KO Cortical Neurons

Cell Reports, 2019
SUMMARY Cortical hyperexcitability is a hallmark of fragile X syndrome (FXS). In the Fmr1 knockout (KO) mouse model of FXS, cortical hyperexcitability is linked to sensory hypersensitivity and seizure susceptibility.
Pernille Bülow, T. Murphy, G. Bassell, P. Wenner   +3 more
semanticscholar   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex

Nature Communications, 2019
Sensory hypersensitivity is a common and debilitating feature of neurodevelopmental disorders such as Fragile X Syndrome (FXS). How developmental changes in neuronal function culminate in network dysfunction that underlies sensory hypersensitivities is ...
A. Domanski, Sam A. Booker, D. Wyllie, J. Isaac, P. Kind   +4 more
semanticscholar   +1 more source

BOLL‐Containing Aggregates Mediate the Translational Regulation During Human Oogenesis

Cell Proliferation, EarlyView.
This work elucidates that BOLL‐containing aggregate‐mediated translational control is essential for human oogenesis. These aggregates recruit PABPC1 and FXR1 to activate the translation of U‐rich mRNAs encoding cell cycle proteins, thereby ensuring successful meiotic progression.
Ying Li, Lingya Mao, Boyuan Liang, Longxin Xie, Wenpei Xiang, Kehkooi Kee   +5 more
wiley   +1 more source

Altered cortical Cytoarchitecture in the Fmr1 knockout mouse

Molecular Brain, 2019
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by silencing of the FMR1 gene and subsequent loss of its protein product, fragile X retardation protein (FMRP).
Frankie H. F. Lee, Terence K. Y. Lai, P. Su, Fang Liu   +3 more
semanticscholar   +1 more source

Astrocytes as central integrators of neural circuit function: Mechanisms and dysregulation in neuropsychiatric disorders

Clinical and Translational Discovery, Volume 6, Issue 2, April 2026.
1. Astrocytes are central integrators of neural circuit function through tripartite synapse modulation and neurovascular coupling. 2. Dysregulation of glutamate/GABA homeostasis and neuroinflammation represents shared mechanisms across diverse neuropsychiatric disorders. 3.
Xinyu Liu, Xinyue Zhou, Ruotong Meng, Yanxi Chen, You Chen, Blake Highet, Maurice Curtis, Bernhard Hirt, Shunying Yu, Jin Zhou, Linya You   +10 more
wiley   +1 more source

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

Science Advances, 2019
Population screening and double-blind phenotyping confirm unique clinical profile in FMR1 premutation carriers. The impact of the FMR1 premutation on human health is the subject of considerable controversy.

semanticscholar   +1 more source

Epigenetic mechanisms and therapeutic innovations in chronic pain‐associated neuropsychiatric co‐morbidities

British Journal of Pharmacology, Volume 183, Issue 7, Page 1313-1340, April 2026.
Abstract Chronic pain, marked by nociceptive sensitization and maladaptive neuroplasticity, affects 30% of the global population with escalating socioeconomic burdens. Epidemiological data show a 2‐3‐fold increase in neuropsychiatric co‐morbidities among individuals with chronic pain, where epigenetic dysregulation serves as a key mechanism linking ...
Kai Zhang, Sijia Zhu, Na Xing, Zhen Zhou, Jiayi Chen, Tianen Si, Mingrui Li, Lin Jia, Yousef Rastegar‐Kashkooli, Tom J. Wang, Wei Zhu, Jing Li, Chao Jiang, Junmin Wang, Moxin Wu, Xiaoping Yin, Weidong Zang, Jian Wang, Songxue Su   +18 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Widespread Alterations in Translation Elongation in the Brain of Juvenile Fmr1 Knock-Out Mice

bioRxiv, 2018
FMRP is a polysome-associated RNA-binding protein encoded by Fmr1 that is lost in Fragile X syndrome. Increasing evidence suggests that FMRP regulates both translation initiation and elongation, but the gene-specificity of these effects is unclear.
Sohani Das Sharma, Jordan B. Metz, Hongyu Li, Benjamin D. Hobson, Nicholas Hornstein, D. Sulzer, Guomei Tang, P. Sims   +7 more
semanticscholar   +1 more source