Results 101 to 110 of about 172,523 (297)

Hair root FMRP expression for screening of fragile X full mutation females

Universa Medicina, 2016
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen   +5 more
doaj   +1 more source

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

Nature Neuroscience, 2010
In humans, the absence of Fragile X mental retardation protein (FMRP), an RNA-binding protein, results in Fragile X syndrome, the most common inherited form of intellectual disability.
Maile R. Brown, J. Kronengold, Valeswara‐Rao Gazula, Yi Chen, John G. Strumbos, F. Sigworth, D. Navaratnam, L. Kaczmarek   +7 more
semanticscholar   +1 more source

Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]

, 2006
Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia, De Koninck, Paul, Gravel, Maud, Khandjian, Edward W. Miky, Tremblay, Sandra   +4 more
core   +1 more source

Fragile X mental retardation protein‐regulated proinflammatory cytokine expression in the spinal cord contributes to the pathogenesis of inflammatory pain induced by complete Freund's adjuvant

Journal of Neurochemistry, 2021
Studies have verified that Fragile X mental retardation protein (FMRP), an RNA‐binding protein, plays a potential role in the pathogenesis of formalin‐ and (RS)‐3,5‐dihydroxyphenylglycine‐induced abnormal pain sensations.
Yixin Yang, Jinsong Zhao, Yunze Li, Xiangyao Li, Xiaowei Chen, Zhiying Feng   +5 more
semanticscholar   +1 more source

Characterizing neuromorphologic alterations with additive shape functionals [PDF]

Eur. Phys. J. B 37, 109 115 (2004), 2004
The complexity of a neuronal cell shape is known to be related to its function. Specifically, among other indicators, a decreased complexity in the dendritic trees of cortical pyramidal neurons has been associated with mental retardation. In this paper we develop a procedure to address the characterization of morphological changes induced in cultured ...
arxiv   +1 more source

Fragile X mental retardation protein interacts with TDG

Chinese Science Bulletin, 2000
Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
J. L. Mandel, Yuting Chen, Yan Shen, Guanyun Wu, B. Bardoni, Ning Zhu, Ming Yu   +6 more
openaire   +2 more sources

Fragile X Mental Retardation Protein expression in the retina is regulated by light [PDF]

Experimental Eye Research, 2016
Fragile X Mental Retardation Protein (FMRP) is a RNA-binding protein that modulates protein synthesis at the synapse and its function is regulated by glutamate. The retina is the first structure that participates in vision, and uses glutamate to transduce electromagnetic signals from light to electrochemical signals to neurons. FMRP has been previously
E.M. Guimarães-Souza, O. Perche, C.W. Morgans, R.M. Duvoisin, K.C. Calaza   +4 more
openaire   +2 more sources

Noninvasive Assessment of β‐Secretase Activity Through Click Chemistry‐Mediated Enrichment of Neuronal Extracellular Vesicles to Detect Alzheimer's Disease

Advanced Science, EarlyView.
This study presents the NEV β‐secretase activity assay, a groundbreaking method for noninvasive evaluation of β‐secretase activity in Alzheimer's disease (AD) patients, enabling the generation of individualized β‐secretase activity profiles.
Hyoyong Kim, Junseok Lee, Audrey Qian, You‐Ren Ji, Ryan Zhang, Qixin Hu, Christopher Kazu Williams, Han‐Yu Chuang, Matthew D. Smalley, Yaya Xu, Liang Gao, Mary C. Mayo, Ting Zhang, Edwin M. Posadas, Zaldy S. Tan, Harry V. Vinters, Keith Vossel, Shino Magaki, Yazhen Zhu, Hsian‐Rong Tseng   +19 more
wiley   +1 more source

The research progress on the role of FMRP in the pathogenesis of tumors

Pifu-xingbing zhenliaoxue zazhi, 2023
Fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that is highly expressed in neurons and influences cytoskeletal remodeling, cell-cell signal transduction and interactions.
Huizhi YANG, Sirui LI, Guiyue CAI, Jingwen ZOU, Junnan REN, Rongyi CHEN   +5 more
doaj   +1 more source

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