Results 61 to 70 of about 11,078,474 (189)

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 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

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Geriatric Regenerative Medicine: Mechanisms, Strategies, and Clinical Translation

iNew Medicine, EarlyView.
The pathological drivers of aging—stem cell exhaustion, cellular senescence with SASP, and aged extracellular matrix—are precisely targeted by three corresponding mechanism‐based strategies: stem cell therapies (rejuvenation, regeneration, and replacement), senolytic/senomorphic agents (D + Q, fisetin, vaccines, and CAR‐T), and senescence‐targeting ...
Qiang Li, Chaoyang Wang, Junci Chong, Zishu Liu, Boying Wang, Shiyu Liu, Xingcai Zhang, Hengrui Liu, Shuanglin Qin, ChuTse Wu, Beidong Chen, Zhigang Chang   +11 more
wiley   +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.
Yuting Chen, B. Bardoni, Ming Yu, Ning Zhu, Guanyun Wu, J. L. Mandel, Yan Shen   +6 more
openaire   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

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

Universa Medicina, 2011
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  

Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome

Neural Plasticity, 2001
The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP).
Michael Gruss, Katharina Braun
doaj   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
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