Results 41 to 50 of about 109,973,714 (148)

Foundations of an Ovine Model of Fragile X Syndrome. [PDF]

Genes (Basel)
Background: Fragile X Syndrome (FXS) is an X-linked neurodevelopmental disorder characterised by intellectual disability, developmental delays, anxiety, and social and behavioural challenges.
Hawkins V, Rudiger SR, McLaughlan CJ, Kelly JM, Lehnert K, Jacobsen JC, Handley RR, Henare K, Verma PJ, Snell RG.   +9 more
europepmc   +2 more sources

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

Neurobiology of Disease
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that ...
Diana A. Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M. Cologna   +3 more
doaj   +1 more source

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research

Biomedicines
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic contributor to autism spectrum disorder. It is caused by a CGG trinucleotide repeat expansion in the FMR1 gene, resulting in gene silencing and the
Mathijs B. van der Lei, R. Frank Kooy
doaj   +1 more source

Fmrp regulates neuronal balance in embryonic motor circuit formation

Frontiers in Neuroscience, 2022
Motor behavior requires the balanced production and integration of a variety of neural cell types. Motor neurons are positioned in discrete locations in the spinal cord, targeting specific muscles to drive locomotive contractions.
Chase M. Barker, Kaleb D. Miles, Kaleb D. Miles, Caleb A. Doll   +3 more
doaj   +1 more source

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

Clinical Case Reports, 2023
Key Clinical Message A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood.
Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz   +9 more
doaj   +1 more source

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome

Brain Sciences, 2022
The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features.
Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey   +5 more
doaj   +1 more source

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

Circular RNA SMAD4 coordinates with m6A‐dependent IGF2BP2 to promote gallbladder cancer development

Clinical and Translational Medicine, Volume 16, Issue 11, November 2026.
• circSMAD4 is upregulated in GBC and is associated with poor survival. • IGF2BP2 promotes circSMAD4 biogenesis through m6A‐dependent recognition mediated by its KH3‐KH4 domains. • circSMAD4 and IGF2BP2 reciprocally stabilize each other, forming a positive feedback loop that activates JAK2/STAT3 signalling and EMT.
Yiming Li, Yayun Xu, Yuan Zhang, Si Gao, Lili Gao, Zhiqing Yuan, Ziyi Wang, Shimei Qiu, Peipei Xu, Yuanding Liu, Zhaonan Liu, Huijie Miao, Hang Xu, Maolan Li, Rong Shao, Yingbin Liu   +15 more
wiley   +1 more source

Combining affinity purification and mass spectrometry to define the network of the nuclear proteins interacting with the N-terminal region of FMRP

Frontiers in Molecular Biosciences, 2022
Fragile X-Syndrome (FXS) represents the most common inherited form of intellectual disability and the leading monogenic cause of Autism Spectrum Disorders.
Félicie Kieffer, Fahd Hilal, Anne-Sophie Gay, Delphine Debayle, Marie Pronot, Gwénola Poupon, Iliona Lacagne, Barbara Bardoni, Stéphane Martin, Carole Gwizdek   +9 more
doaj   +1 more source

FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability

Scientific Reports, 2022
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder emerging in early life characterized by impairments in social interaction, poor verbal and non-verbal communication, and repetitive patterns of behaviors.
Annunziata D’Elia, Sara Schiavi, Antonia Manduca, Alessandro Rava, Valeria Buzzelli, Fabrizio Ascone, Tiziana Orsini, Sabrina Putti, Andrea Soluri, Filippo Galli, Alessandro Soluri, Maurizio Mattei, Rosella Cicconi, Roberto Massari, Viviana Trezza   +14 more
doaj   +1 more source