Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation
JACC: Case Reports, 2020 This paper reports 2 cases of female carriers of the FMR1 premutation for developing spontaneous coronary artery dissection (SCAD). These women had classical presentations of premutation symptoms, including anxiety, depression, and connective tissue ...
Forrest J. McKenzie, BS +4 more
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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.
Melissa Raspa +7 more
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STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]
, 2010 Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
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Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
Molecular Autism, 2010 Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP).
Hagerman Randi, Hoem Gry, Hagerman Paul
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Investigation of amygdala volume in men with the fragile X premutation [PDF]
Brain Imaging and Behavior, 2011 Premutation fragile X carriers have a CGG repeat expansion (55 to 200 repeats) in the promoter region of the fragile X mental retardation 1 (FMR1) gene. Amygdala dysfunction has been observed in premutation symptomatology, and recent research has suggested the amygdala as an area susceptible to the molecular effects of the premutation.
Diana, Selmeczy +10 more
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Manifestaciones neurológicas en el adulto con premutación X frágil
Neurología, 2010 Resumen: Introducción: El síndrome X frágil es una forma de retraso mental heredado. Es consecuencia de una expansión anormal del número de repeticiones del trinucleótido CGG.
J. Cabanyes-Truffino
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Repeat-mediated epigenetic dysregulation of the FMR1 gene in the Fragile X-related disorders
Frontiers in Genetics, 2015 The Fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus.
Karen eUsdin, Daman eKumari
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Fragile X spectrum disorders [PDF]
, 2014 The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles ...
Lozano, Reymundo +2 more
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Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report [PDF]
, 2022 People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS).
Ocak, Özgül, Sılan, Fatma
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MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. [PDF]
PLoS Genetics, 2012 Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation carriers and is uncoupled from fragile X syndrome.
Huiping Tan +4 more
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