Results 91 to 100 of about 5,127 (199)
Prevalence and implications of fragile X premutation screening in Thailand
Scientific ReportsThe fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially ...
Areerat Hnoonual +3 more
doaj +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.ABSTRACT Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder characterised by cessation of menstruation before the age of 40 years with elevated levels of follicle‐stimulating hormone. Germline variants in the MSH5 gene cause POI. In this study, we investigated a Han Chinese family with POI.
Bin Mao +9 more
wiley +1 more source
Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation
, 2017 The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5′-untranslated region of the fragile X mental retardation 1 gene (FMR1).
Martínez, Raquel +6 more
core +1 more source
When R‐Loops Go Awry: Genome Instability and Neurological Diseases
European Journal of Neuroscience, Volume 63, Issue 8, April 2026.DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley +1 more source
Narrative Language Among Mothers With the \u3ci\u3eFMR1\u3c/i\u3e Premutation and Mothers of Children With Autism Spectrum Disorder [PDF]
, 2020 Difficulties with pragmatic language are known language traits among women with the FMR1 premutation and within the broad autism phenotype (BAP). Our study investigated the narrative cohesion and story grammar organization of spontaneously generated ...
Mousavi, Sara
core +1 more source
Artificial Cells, Nanomedicine, and Biotechnology, 2019 Aim Reports on the association of the CGG repeat length in the FMR1 gene with the severity of idiopathic POI are inconclusive. Therefore, a meta analysis was performed to investigate the relationship between the expansion of repeat CGG and idiopathic POI
Jing Huang +5 more
doaj +1 more source
Warburg effect linked to cognitive‐executive deficits in FMR1 premutation
, 2016 A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian ...
Napoli, Eleonora +7 more
core +1 more source
Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers
Journal of Neurodevelopmental Disorders, 2012 Purpose There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism.
Hallahan Brian P +5 more
doaj +1 more source
Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation And Intermediate Allele Carriers [PDF]
, 2018 Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with \u3e200 repeats have FXS, while individuals between 45-54 and 55- 200 repeats have the FMR1 intermediate allele and premutation, respectively.
Saadat Girnary, Zahra
core +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1
Esther Manor +6 more
doaj +1 more source