Results 11 to 20 of about 14,262 (208)
Generation and characterization of FMR1 knockout zebrafish. [PDF]
PLoS ONE, 2009 Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila.
Marjo J den Broeder +5 more
doaj +7 more sources
Journal of Neurodevelopmental Disorders, 2017 Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with ...
Jessica Klusek +5 more
doaj +6 more sources
Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. [PDF]
PLoS ONE, 2014 AimTo assess the role of mRNA accumulation in granulosa cells as the cause of low ovarian response among FMR1 premutation carriers undergoing pre-implantation genetic diagnosis (PGD).DesignCase control study in an academic IVF unit.
Shai E Elizur +7 more
doaj +5 more sources
Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice [PDF]
Brain Sciences, 2019 Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs
Rachel Michelle Saré +4 more
doaj +4 more sources
Metabolic Alterations in FMR1 Premutation Carriers [PDF]
Frontiers in Molecular Biosciences, 2020 FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao +6 more
doaj +4 more sources
Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay [PDF]
The Journal of Molecular Diagnostics, 2000 The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1
Thomas M. Daly +3 more
openalex +5 more sources
Molecular Ecology, EarlyView., 2023 Abstract Natural variation can provide important insights into the genetic and environmental factors that shape social behaviour and its evolution. The sweat bee, Lasioglossum baleicum, is a socially flexible bee capable of producing both solitary and eusocial nests.
Kennedy S. Omufwoko +5 more
wiley +1 more source
Aging in Individuals With the FMR1 Mutation [PDF]
American Journal on Mental Retardation, 2004 Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia ...
Tristan Jardini +12 more
openaire +3 more sources
FMR1 and Autism, an Intriguing Connection Revisited [PDF]
Genes, 2021 Autism Spectrum Disorder (ASD) represents a distinct phenotype of behavioral dysfunction that includes deficiencies in communication and stereotypic behaviors. ASD affects about 2% of the US population. It is a highly heritable spectrum of conditions with substantial genetic heterogeneity.
William Fyke, Milen Velinov
openaire +3 more sources
Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization. [PDF]
PLoS ONE, 2014 Mutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.To confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects differences in ovarian ...
Vitaly A Kushnir +9 more
doaj +1 more source