Results 71 to 80 of about 14,330 (189)

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

Peripheral regeneration of Aβ low‐threshold mechanoreceptors is limited despite activation of regenerative transcriptional pathways

The Journal of Physiology, EarlyView.
Abstract figure legend The regeneration of Aβ low‐threshold mechanoreceptors (Aβ‐LTMRs), sensory neurons responsible for discriminative touch, has not previously been explored. Here, we took advantage of the selective expression of Calb1 in Aβ‐LTMRs to generate two genetic mouse models for studying their regenerative response after nerve injury.
Sara Bolívar, Natàlia Martínez‐Mateu, David Ovelleiro, Esther Udina   +3 more
wiley   +1 more source

Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in Genetics, 2018
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation ...
Melissa Raspa, Amanda Wylie, Anne C. Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, Stephen W. Porges, Stephen W. Porges   +7 more
openaire   +3 more sources

Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice

Frontiers in Cellular Neuroscience, 2013
Young, but not adult, Fmr1 knockout (KO) mice display audiogenic seizures (AGS) that can be prevented by inhibiting extracellular signal-regulated kinases 1/2 (ERK1/2) phosphorylation. In order to identify the cerebral regions involved in these phenomena,
Giulia eCuria, Fabio eGualtieri, Fabio eGualtieri, Regina eBartolomeo, Riccardo eVezzali, Giuseppe eBiagini   +5 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

G‐Quadruplexes: Structural Diversity and Emerging Roles in Biomolecular Condensation

Advanced Science, Volume 13, Issue 45, 13 August 2026.
G‐quadruplexes (G4s) fold into diverse intra‐ and intermolecular structures, positioning them as emerging regulators of biomolecular condensation. Mechanistically, G4s autonomously form condensates, act as structural platforms to initiate and stimulate condensation, or induce phase transitions.
Wenmeng Wang, Qingqing Xu, Yuxin Zhang, Fang Liu, Guangchao Sui, Dangdang Li   +5 more
wiley   +1 more source

Unstable Mutations in the FMR1 Gene and the Phenotypes [PDF]

, 2012
Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.
Danuta, Loesch, Randi, Hagerman
openaire   +2 more sources

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

PLoS ONE, 2012
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer, Muy-Kheng Tea, David H Barad, Ann Kim, Christian F Singer, Klaus Wagner, Norbert Gleicher   +6 more
doaj   +1 more source

Aberrant Neural Entrainment to Word‐Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit

Autism Research, Volume 19, Issue 8, August 2026.
ABSTRACT Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, causes significant language and cognitive impairments. Statistical learning refers to the ability to extract patterns from sensory input through mere exposure and plays a central role in language acquisition.
Laura J. Batterink, Yanchen Liu, Grace Westerkamp, Jae Citarella, Peyton Siekierski, Lynxie Voorhees, Lauren E. Ethridge, Elizabeth Smith, Rana Elmaghraby, Craig A. Erickson, Zag ElSayed, Anubhuti Goel, Steve W. Wu, Ernest V. Pedapati   +13 more
wiley   +1 more source

EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons

Frontiers in Neuroscience
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease.
Minggang Fang, Sara K. Deibler, Pranathi Meda Krishnamurthy, Feng Wang, Paola Rodriguez, Shahid Banday, Ching-Man Virbasius, Miguel Sena-Esteves, Jonathan K. Watts, Michael R. Green   +9 more
doaj   +1 more source