Results 61 to 70 of about 14,262 (208)
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 ...
Anne Edwards +7 more
openaire +4 more sources
Altered cortical Cytoarchitecture in the Fmr1 knockout mouse [PDF]
Molecular Brain, 2019 Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by silencing of the FMR1 gene and subsequent loss of its protein product, fragile X retardation protein (FMRP). One of the most robust neuropathological findings in post-mortem human FXS and Fmr1 KO mice is the abnormal increase in dendritic spine densities, with the majority of spines ...
Ping Su +5 more
openaire +4 more sources
Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence
Journal of Neurodevelopmental Disorders, 2017 Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek +4 more
doaj +1 more source
Psychiatry and Clinical Neurosciences, EarlyView.Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto +15 more
wiley +1 more source
Fmr1 exon 14 skipping in late embryonic development of the rat forebrain
BMC Neuroscience, 2022 Background Fragile X syndrome, the major cause of inherited intellectual disability among men, is due to deficiency of the synaptic functional regulator FMR1 protein (FMRP), encoded by the FMRP translational regulator 1 (FMR1) gene.
Juliana C. Corrêa-Velloso +10 more
doaj +1 more source
British Journal of Pharmacology, Volume 182, Issue 14, Page 3044-3067, July 2025.Abstract Autism spectrum disorders (ASDs) are diagnosed in 1/100 children worldwide, based on two core symptoms: deficits in social interaction and communication, and stereotyped behaviours. G protein‐coupled receptors (GPCRs) are the largest family of cell‐surface receptors that transduce extracellular signals to convergent intracellular signalling ...
Anil Annamneedi +6 more
wiley +1 more source
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes [PDF]
European Journal of Human Genetics, 2011 During the last few years, several studies have reported an excess of intermediate FMR1 alleles in patients with cognitive and/or behavioural phenotypes. Here, we report the frequency of intermediate alleles (IAs) in three pathologies, intellectual disabilities (IDs), attention-deficit/hyperactivity disorder and autism, from different Spanish regions ...
Madrigal, Irene +7 more
openaire +5 more sources
Autism Research, Volume 18, Issue 6, Page 1290-1300, June 2025.ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni +14 more
wiley +1 more source
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
Neurobiology of Disease, 2006 The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout (Fmr1 KO) allele.
E.J. Mientjes +9 more
doaj
Changes in sensitivity of reward and motor behavior to dopaminergic, glutamatergic, and cholinergic drugs in a mouse model of fragile X syndrome. [PDF]
PLoS ONE, 2013 Fragile X syndrome (FXS) is a leading cause of intellectual disability. FXS is caused by loss of function of the FMR1 gene, and mice in which Fmr1 has been inactivated have been used extensively as a preclinical model for FXS.
Eric W Fish +5 more
doaj +1 more source