Cargando…

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogenicity of FMR1 coding, noncoding, and copy number va...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tekendo-Ngongang, Cedrik, Grochowsky, Angela, Solomon, Benjamin D., Yano, Sho T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623550/ https://www.ncbi.nlm.nih.gov/pubmed/34828275 http://dx.doi.org/10.3390/genes12111669

Ejemplares similares

RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility
por: Frizzell, Aisling, et al.
Publicado: (2014)

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)

The 26S proteasome drives trinucleotide repeat expansions
por: Concannon, Claire, et al.
Publicado: (2013)

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions
por: Debacker, Kim, et al.
Publicado: (2012)

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions
por: Richard, Guy-Franck
Publicado: (2021)

Neural network classifiers for images of genetic conditions with cutaneous manifestations
por: Duong, Dat, et al.
Publicado: (2021)

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

Trinucleotide repeat expansions catalyzed by human cell-free extracts
por: Stevens, Jennifer R, et al.
Publicado: (2013)

Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington’s disease
por: Cho, In K., et al.
Publicado: (2022)

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

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases
por: Martí, Eulàlia, et al.
Publicado: (2013)

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)

CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice
por: Gomes-Pereira, Mário, et al.
Publicado: (2007)

Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases
por: Benn, Caroline L., et al.
Publicado: (2021)

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

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations
por: Macpherson, James N., et al.
Publicado: (2016)

Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles
por: Arrieta, M.I, et al.
Publicado: (2008)

Noonan Syndrome in South Africa: Clinical and Molecular Profiles
por: Tekendo-Ngongang, Cedrik, 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)

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)

Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases
por: Ghorbani, Mohammadmersad, et al.
Publicado: (2013)

Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes
por: Duong, Dat, et al.
Publicado: (2022)

Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases
por: Kiliszek, Agnieszka, et al.
Publicado: (2010)

MutSβ and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells
por: Gannon, Anne-Marie M., et al.
Publicado: (2012)

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2022)

Trinucleotide repeats in human genome and exome
por: Kozlowski, Piotr, et al.
Publicado: (2010)

Trinucleotide repeats: triggers for genomic disorders?
por: Kozlowski, Piotr, et al.
Publicado: (2010)

Trinucleotide Repeats: A Structural Perspective
por: Almeida, Bruno, et al.
Publicado: (2013)

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation
por: McKenzie, Forrest J., et al.
Publicado: (2020)

Pirenperone relieves the symptoms of fragile X syndrome in Fmr1 knockout mice
por: Kim, Yujeong, et al.
Publicado: (2022)

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)

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)

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome
por: Pastori, Chiara, et al.
Publicado: (2013)

Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ Endothelial Corneal Dystrophy
por: Soh, Yu Qiang, et al.
Publicado: (2019)

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells
por: Haenfler, Jill M., et al.
Publicado: (2018)

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
por: Nobile, Veronica, et al.
Publicado: (2021)

Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence
por: Lee, Jessica K., et al.
Publicado: (2018)

Diagrammatic approaches to RNA structures with trinucleotide repeats
por: Mak, Chi H., et al.
Publicado: (2021)

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

Cannot write session to /tmp/vufind_sessions/sess_43bcg4j3ui0b0p70e6fluc4e5c