Results 91 to 100 of about 28,100 (214)

Therapeutic Targets and Translational Endpoints in Fragile X Syndrome [PDF]

, 2014
__Abstract__ Fragile X syndrome is the most common inherited cause of intellectual disability. It is more common in boys (1 in 4000) than girls (1 in 6000).
Esch, C.E.F. (Celine) de
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Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype [PDF]

, 2011
Fragile X syndrome (FXS), the most common form of hereditary mental retardation, is caused by a loss-of-function mutation of the Fmr1 gene, which encodes fragile X mental retardation protein (FMRP).
Antar, Arikkath, August B. Smit, Bagni, Bamji, Bassell, Braun, Brown, Bureau, Carl D. Holmgren, Castets, Christie, Comery, Costa-Mattioli, Desai, Diana C. Rotaru, Dictenberg, Dutch-Belgian Fragile X Consortium, Frey, Galvez, Garber, Georgopoulou, Gibson, Giuffrida, Harlow, Heidi de Wit, Huibert D. Mansvelder, Irwin, Irwin, Ivanco, Jianru Stahl-Zeng, Joke Wortel, Ka Wan Li, Kelley, Klychnikov, Koukoui, Laux, Li, Li, Maarten Loos, Mamalaki, Mann, Massey, Meredith, Meredith, Meredith, Nimchinsky, Nosyreva, Okuda, Oleg I. Klychnikov, Patricia Klemmer, Pfeiffer, Pilpel, Reeve, Rhiannon M. Meredith, Roel C. van der Schors, Roxas, Sabine Spijker, Tessier, Tusher, Van den Oever, Volk, Wilson, Zhang   +63 more
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Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation [PDF]

Biological Psychiatry, 2011
The fragile X premutation provides a unique opportunity for the study of genetic and brain mechanisms of behavior and cognition in the context of neurodevelopment and neurodegeneration. Although the neurodegenerative phenotype, fragile X-associated tremor/ataxia syndrome, is well described, evidence of a causal link between the premutation and ...
David, Hessl, John M, Wang, Andrea, Schneider, Kami, Koldewyn, Lien, Le, Christine, Iwahashi, Katherine, Cheung, Flora, Tassone, Paul J, Hagerman, Susan M, Rivera   +9 more
openaire   +2 more sources

Adolescent Normative Intervals for Body Surface Gastric Mapping: Spectral Analysis

Neurogastroenterology &Motility, Volume 38, Issue 3, March 2026.
This study establishes Body Surface Gastric Mapping (BSGM) normative reference intervals for adolescents. Establishing these adolescent reference intervals would improve diagnostic confidence and confirm normal versus abnormal gastric myoelectric activity. These normative reference intervals support test interpretation and allow specific phenotyping of
Gayl Humphrey, Gabriel Schamberg, Binghong Xu, Nicky Dachs, Daphne Foong, Chris Varghese, Christopher N. Andrews, Hayat Mousa, Armen Gharibans, Gregory O'Grady   +9 more
wiley   +1 more source

Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

Stem Cell Research, 2019
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. Muddashetty   +3 more
doaj   +1 more source

Metabonomics adds a new dimension to fragile X syndrome [PDF]

, 2011
Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking.
Braat, Sien, Heulens, Inge, Kooy, R Frank   +2 more
core   +2 more sources

Fragile X mental retardation protein stimulates ribonucleoprotein assembly of influenza A virus [PDF]

Nature Communications, 2014
The ribonucleoprotein (RNP) of the influenza A virus is responsible for the transcription and replication of viral RNA in the nucleus. These processes require interplay between host factors and RNP components. Here, we report that the Fragile X mental retardation protein (FMRP) targets influenza virus RNA synthesis machinery and facilitates virus ...
Zhuo, Zhou, Mengmeng, Cao, Yang, Guo, Lili, Zhao, Jingfeng, Wang, Xue, Jia, Jianguo, Li, Conghui, Wang, Gülsah, Gabriel, Qinghua, Xue, Yonghong, Yi, Sheng, Cui, Qi, Jin, Jianwei, Wang, Tao, Deng   +14 more
openaire   +2 more sources

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, Volume 80, Issue 3, Page 166-179, March 2026.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

FMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment

Biomolecules
The Fragile X Mental Retardation 1 (FMR1) gene is well-known for its role in Fragile X syndrome, a neurodevelopmental disorder, but emerging evidence suggests its involvement in regulating cellular metabolism, with implications for cancer biology.
Renbin Zhou, Hao Lin, Xinyu Dou, Bang Zeng, Xinyi Zhao, Lei Ma, Drissa Diarra, Bing Liu, Wei-Wei Deng, Tianfu Wu   +9 more
doaj   +1 more source

The translational regulator dFMRP interacts with epidermal growth factor receptor to regulate apoptosis in Drosophila [PDF]

, 2016
poster abstractPosttranscriptional gene regulation is required for all aspects of cellular and tissue development and is a major mechanism underlying many diseases ranging from neurological disorders to cancer.
Sherwood, Jacqueline E., Tessier, Charles R., Zic, Jessica Z.   +2 more
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