Results 11 to 20 of about 26,254 (239)

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, Herma van der Linde, Judith R Brouwer, Ben A Oostra, Rob Willemsen, René F Ketting   +5 more
doaj   +7 more sources

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

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, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone, Jane E. Roberts   +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, Oshrit Lebovitz, Sanaz Derech-Haim, Olga Dratviman-Storobinsky, Baruch Feldman, Jehoshua Dor, Raoul Orvieto, Yoram Cohen   +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, Christopher Figueroa, Abigail Lemons, Inna Loutaev, Carolyn Beebe Smith   +4 more
doaj   +4 more sources

Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]

Molecular Genetics & Genomic Medicine, 2020
BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo, Hagerman, Paul, Hagerman, Randi, Santos, Ellery, Schneider, Andrea, Tassone, Flora, Wang, Jun Yi   +6 more
core   +8 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, Arash Rafii, Rick A. Martin, Barbara A. Zehnbauer   +3 more
openalex   +5 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. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
openaire   +4 more sources

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, Faraz Farzin, Elizabeth Berry-Kravis, Deborah A. Hall, Randi J Hagerman, Jim Grigsby, Maureen A. Leehey, Louise W. Gane, Flora Tassone, Paul J. Hagerman, Lin Zhang, Foster Lewin, Sébastien Jacquemont   +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

Oxytocin Improves Autistic Behaviors by Positively Shifting GABA Reversal Potential via NKCC1 in Early-Postnatal-Stage. [PDF]

Adv Sci (Weinh)
New research reveals that oxytocin signaling during the early postnatal period is critical for regulating brain development and social behavior. Selectively suppressing oxytocin neurons by chemogenetic method shows that early—but not late—disruption leads to autism‐like behaviors.
Wang ZH, Xu C, Ma YY, Xue WX, Wang HY, Fan LY, Zhang CY, Li L, Zhang XY, Zhu JN, Zhang QP.   +10 more
europepmc   +2 more sources