Fmr1 Premutation
Mostrando 1-12 de 21 artigos, teses e dissertações.
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1. Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
RESUMO. Mutações expansivas no gene FMR1 têm sido associadas a diferentes fenótipos. Mutações completas estão associadas a deficiência intelectual e transtorno do espectro do autismo; pré-mutações, com dificuldades de aprendizagem de matemática e comprometimentos de memória de trabalho. Na zona cinzenta o desenvolvimento neuropsicológico ainda
Dementia & Neuropsychologia. Publicado em: 2022
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2. Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil
Abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to
An. Acad. Bras. Ciênc.. Publicado em: 23/09/2019
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3. Análise da expressão do gene FMR1 no ovário / Analysis of the FMR1 gene expression in the ovary
Este estudo teve como objetivo geral a análise do gene FMR1 (Fragile X Mental Retardation gene 1) quanto a sua relação com a insuficiência ovariana primária (Fragile X-related Primary Ovarian Insufficiency, FXPOI). No Capítulo I, apresentamos revisão da literatura sobre FXPOI. A pré-mutação do gene FMR1 constitui a mais frequente causa genética de
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 06/10/2011
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4. O conhecimento de genética consolidado para o diagnóstico da Síndrome do X-frágil e o desafio da sua inclusão nas políticas públicas de saúde
Since DNA structure was described, several studies have been carried out in genetics that promoted a revolution in the practice of medicine. Human syndromes that were practically undiagnosed became easily diagnosed with molecular tools. However, most of the genetic diseases remain under diagnostic obscurity, increasing health concerns for affected people and
Publicado em: 2008
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5. The FMR1 premutation as a cause of premature ovarian failure in Brazilian women
The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for premature ovarian failure (POF) to carrier females. A
Genetics and Molecular Biology. Publicado em: 2006
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6. Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers with premutation alleles. A collaboration of 13 laboratories in eight countries was established to examine four issues concerning FMR1 CGG-repeat instability among females with premutation (∼55–20
The American Society of Human Genetics.
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7. Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
RNA metabolism is a major contributor to the pathogenesis of clinical disorders associated with premutation size alleles of the fragile X mental retardation (FMR1) gene. Herein, we determined the structural properties of numerous FMR1 transcripts harboring different numbers of both CGG repeats and AGG interruptions. The stability of hairpins formed by uninte
Oxford University Press.
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8. Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in the 5′-UTR of the FMR1 gene, which generally results in transcriptional silencing and consequent absence of the FMR1 protein. To date, the smallest premutation allele reported to expand to a full mutation allele in a single generation is 59 CGG repeats. Here, we report a singl
American Society for Investigative Pathology.
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9. Ectopic expression of CGG containing mRNA is neurotoxic in mammals
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a progressive neurodegenerative disorder that has been diagnosed in a substantial fraction of older male fragile X premutation carriers. Patients affected by FXTAS have elevated levels of ribo-rCGG repeat containing FMR1 mRNA with normal to slightly reduced levels of FMRP in blood leukocytes. Coupled wit
Oxford University Press.
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10. Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population
Fragile X syndrome, which is caused by expanded CGG repeats of the FMR1 gene, is associated with a broad spectrum of clinical involvement and is the most common inherited form of intellectual disability. Early diagnosis and intervention are likely to lead to improved outcome for children with fragile X syndrome, but such strategies require better estimates o
American Society for Investigative Pathology.
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11. Methylation mosaicism of 5′-(CGG)n-3′ repeats in fragile X, premutation and normal individuals
Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5′-(CGG)n-3′ repeat in the promoter and 5′-untranslated region (5′-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and abs
Oxford University Press.
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12. Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to the clinical phenotype. Here we describe a prenatal diagnos