Cargando…

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

The Fragile X-related disorders are a group of genetic conditions that include the neurodegenerative disorder, Fragile X-associated tremor/ataxia syndrome (FXTAS), the fertility disorder, Fragile X-associated primary ovarian insufficiency (FXPOI) and the intellectual disability, Fragile X syndrome (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Usdin, Karen, Hayward, Bruce E., Kumari, Daman, Lokanga, Rachel A., Sciascia, Nicholas, Zhao, Xiao-Nan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2014
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101883/ https://www.ncbi.nlm.nih.gov/pubmed/25101111 http://dx.doi.org/10.3389/fgene.2014.00226

Ejemplares similares

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

Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome
por: Lokanga, Rachel Adihe, et al.
Publicado: (2021)

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)

Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells
por: Kumari, Daman, et al.
Publicado: (2020)

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

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

Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders
por: Zhao, Xiao-Nan, et al.
Publicado: (2018)

SIRT1 Inhibition Alleviates Gene Silencing in Fragile X Mental Retardation Syndrome
por: Biacsi, Rea, et al.
Publicado: (2008)

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)

The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome
por: Kumari, Daman, et al.
Publicado: (2009)

Heterozygosity for a Hypomorphic Polβ Mutation Reduces the Expansion Frequency in a Mouse Model of the Fragile X-Related Disorders
por: Lokanga, Rachel Adihe, et al.
Publicado: (2015)

Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders
por: Zhao, Xiao-Nan, et al.
Publicado: (2016)

Mechanisms of Genome Instability in the Fragile X-Related Disorders
por: Hayward, Bruce E., et al.
Publicado: (2021)

Is Friedreich ataxia an epigenetic disorder?
por: Kumari, Daman, et al.
Publicado: (2012)

CGG Repeat Expansion, and Elevated Fmr1 Transcription and Mitochondrial Copy Number in a New Fragile X PM Mouse Embryonic Stem Cell Model
por: Gazy, Inbal, et al.
Publicado: (2020)

Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
por: Vafaeie, Farzane, et al.
Publicado: (2021)

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

Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency
por: Wheeler, Anne C., et al.
Publicado: (2014)

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
por: Greene, Eriko, et al.
Publicado: (2007)

Zebrafish Chromosome 14 Gene Differential Expression in the fmr1(hu2787) Model of Fragile X Syndrome
por: Barthelson, Karissa, et al.
Publicado: (2021)

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
por: Alisch, Reid S, et al.
Publicado: (2013)

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome
por: Mailick, Marsha R., et al.
Publicado: (2018)

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

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
por: Manor, Esther, et al.
Publicado: (2017)

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome
por: Mor-Shaked, Hagar, et al.
Publicado: (2018)

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
por: Avitzour, Michal, et al.
Publicado: (2014)

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

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice
por: Entezam, Ali, et al.
Publicado: (2009)

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

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
por: Zafarullah, Marwa, et al.
Publicado: (2020)

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
por: Godler, David E., et al.
Publicado: (2023)

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture
por: Grosso, Valentina, et al.
Publicado: (2021)

Towards Mechanism-Based Treatments for Fragile X Syndrome
por: Kumari, Daman, et al.
Publicado: (2019)

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)

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
por: Latham, Gary J., et al.
Publicado: (2014)

Clinical implications of somatic allele expansion in female FMR1 premutation carriers
por: Aishworiya, Ramkumar, et al.
Publicado: (2023)

MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective
por: Zhao, Xiaonan, et al.
Publicado: (2018)

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
por: Hwang, Ye Hyun, et al.
Publicado: (2022)

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes
por: Tekendo-Ngongang, Cedrik, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ncj9o76ejn9f72f6nuns64e3uo