Cargando…

CGG Repeat Expansion, and Elevated Fmr1 Transcription and Mitochondrial Copy Number in a New Fragile X PM Mouse Embryonic Stem Cell Model

The Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5′ end of the FMR1 gene. While expansion affects transmission risk and can also affect disease risk and severity, the underlying molecular mechanism responsible...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gazy, Inbal, Miller, Carson J., Kim, Geum-Yi, Usdin, Karen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338602/ https://www.ncbi.nlm.nih.gov/pubmed/32695777 http://dx.doi.org/10.3389/fcell.2020.00482

Ejemplares similares

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome
por: Kumari, Daman, et al.
Publicado: (2019)

CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons
por: Zhou, Yifan, et al.
Publicado: (2016)

ATR protects the genome against CGG·CCG-repeat expansion in Fragile X premutation mice
por: Entezam, Ali, et al.
Publicado: (2008)

A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?
por: Zhao, Xiao-Nan, et al.
Publicado: (2016)

Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder
por: Hnoonual, Areerat, et al.
Publicado: (2021)

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
por: Lim, Grace X. Y., et al.
Publicado: (2017)

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions
por: Kim, Kyoungmi, et al.
Publicado: (2019)

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome
por: Rajan-Babu, Indhu-Shree, et al.
Publicado: (2017)

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome
por: Xie, Nina, et al.
Publicado: (2016)

Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
por: Allen, Emily Graves, et al.
Publicado: (2021)

Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers
por: Peyser, Alexandra, et al.
Publicado: (2017)

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders
por: Usdin, Karen, et al.
Publicado: (2015)

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes
por: Ennis, S, et al.
Publicado: (2007)

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
por: Nolin, Sarah L., et al.
Publicado: (2019)

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age
por: Ma, Yinan, et al.
Publicado: (2019)

Low-normal FMR1 CGG repeat length: phenotypic associations
por: Mailick, Marsha R., et al.
Publicado: (2014)

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model
por: Zhao, Xiaonan, et al.
Publicado: (2019)

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)
por: Khaniani, Mahmoud S, et al.
Publicado: (2008)

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
por: Napierala, Marek, et al.
Publicado: (2005)

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
por: Tabolacci, Elisabetta, et al.
Publicado: (2022)

All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders
por: Miller, Carson J., et al.
Publicado: (2020)

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress
por: Mailick, Marsha R., et al.
Publicado: (2020)

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
por: Usdin, Karen, et al.
Publicado: (2014)

CGG Repeats in the 5’UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules
por: Rovozzo, René, et al.
Publicado: (2016)

(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders
por: Zhao, Xiaonan, et al.
Publicado: (2021)

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region
por: Loomis, Erick W., et al.
Publicado: (2014)

Reduced RNA expression of the FMR1 gene in women with low (CGG(n<26)) repeats
por: Wang, Qi, et al.
Publicado: (2018)

Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education
por: Hong, Jinkuk, et al.
Publicado: (2023)

Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population
por: Chen, Juan, et al.
Publicado: (2023)

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
por: Brykczynska, Urszula, et al.
Publicado: (2016)

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka
por: Chandrasekara, C. H. W. M. R. Bhagya, et al.
Publicado: (2015)

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
por: Loomis, Erick W., et al.
Publicado: (2013)

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration
por: Xu, Keqin, et al.
Publicado: (2021)

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
por: Yrigollen, Carolyn M, et al.
Publicado: (2014)

The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve
por: Tang, Ruiyi, et al.
Publicado: (2020)

Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field
por: Hunsaker, Michael R.
Publicado: (2013)

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults
por: Hong, Jinkuk, et al.
Publicado: (2021)

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease
por: Zhao, Xiaonan, et al.
Publicado: (2021)

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve
por: Rehnitz, Julia, et al.
Publicado: (2018)

Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range
por: Klusek, Jessica, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_dekot0v7mvhe8jhouuh1fpqn8d