Cargando…

Propensity for somatic expansion increases over the course of life in Huntington disease

Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kacher, Radhia, Lejeune, François-Xavier, Noël, Sandrine, Cazeneuve, Cécile, Brice, Alexis, Humbert, Sandrine, Durr, Alexandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2021
Materias:	Genetics and Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8118653/ https://www.ncbi.nlm.nih.gov/pubmed/33983118 http://dx.doi.org/10.7554/eLife.64674

Ejemplares similares

Altered Cholesterol Homeostasis in Huntington’s Disease
por: Kacher, Radhia, et al.
Publicado: (2022)

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

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
por: Kovalenko, Marina, et al.
Publicado: (2020)

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website
por: Bamford, S, et al.
Publicado: (2004)

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection
por: Roy, Jennie C L, et al.
Publicado: (2021)

Somatic glypican 3 (GPC3) mutations in Wilms' tumour
por: White, G R M, et al.
Publicado: (2002)

Somatic mutations of KIT in familial testicular germ cell tumours
por: Rapley, E A, et al.
Publicado: (2004)

Non-invasive prediction of recurrence in bladder cancer by detecting somatic TERT promoter mutations in urine
por: Descotes, Françoise, et al.
Publicado: (2017)

Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease
por: Jones, Lesley, et al.
Publicado: (2021)

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas
por: Barker, K T, et al.
Publicado: (2002)

The multi-tissue landscape of somatic mtDNA mutations indicates tissue-specific accumulation and removal in aging
por: Sanchez-Contreras, Monica, et al.
Publicado: (2023)

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
por: de Kock, Leanne, et al.
Publicado: (2017)

Whole genome duplication and transposable element proliferation drive genome expansion in Corydoradinae catfishes
por: Marburger, Sarah, et al.
Publicado: (2018)

Expansion of the circadian transcriptome in Brassica rapa and genome-wide diversification of paralog expression patterns
por: Greenham, Kathleen, et al.
Publicado: (2020)

Correction: Evolution of reduced co-activator dependence led to target expansion of a starvation response pathway
por: He, Bin Z, et al.
Publicado: (2022)

Genomic signatures of G-protein-coupled receptor expansions reveal functional transitions in the evolution of cephalopod signal transduction
por: Ritschard, Elena A., et al.
Publicado: (2019)

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
por: Amador, Maria del Mar, et al.
Publicado: (2020)

Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease
por: Budworth, Helen, et al.
Publicado: (2015)

Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity
por: Budworth, Helen, et al.
Publicado: (2016)

Mood disorders in Huntington's disease: from behavior to cellular and molecular mechanisms
por: Pla, Patrick, et al.
Publicado: (2014)

Short somatic alterations at the site of copy number variation in breast cancer
por: Murakami, Fumi, et al.
Publicado: (2020)

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells
por: Pešović, Jovan, et al.
Publicado: (2018)

P029: Are Reed-Sternberg cells stuck in mitosis by short nucleoplasmic bridges as a consequence of centromeric instability?
por: M’Kacher, Radhia, et al.
Publicado: (2022)

Huntington's Disease: A Clinical Review
por: Andhale, Rajeshwar, et al.
Publicado: (2022)

The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective
por: Monckton, Darren G.
Publicado: (2021)

It is time to get real when trying to predict educational performance
por: Janssens, Cecile
Publicado: (2020)

Genetic and pharmacological inhibition of calcineurin corrects the BDNF transport defect in Huntington's disease
por: Pineda, Jose R, et al.
Publicado: (2009)

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease
por: McLean, Zachariah L., et al.
Publicado: (2023)

How specific molecules can lead to overeating
por: Blanco, María Gabriela, et al.
Publicado: (2023)

The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling
por: Moreira Sousa, Cristovão, et al.
Publicado: (2013)

Management of Agitation in Huntington’s Disease: A Review of the Literature
por: Rossi, Garrett, et al.
Publicado: (2020)

The Effect of Huntington’s Disease on the Basal Nuclei: A Review
por: Matz, Olivia C, et al.
Publicado: (2022)

Nuclear-specific gene expression in heterokaryons of the filamentous ascomycete Neurospora tetrasperma
por: Meunier, Cécile, et al.
Publicado: (2022)

Clonal reproduction of Moniliophthora roreri and the emergence of unique lineages with distinct genomes during range expansion
por: Minio, Andrea, et al.
Publicado: (2023)

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)

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
por: Ciosi, Marc, et al.
Publicado: (2019)

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
por: Soufir, N, et al.
Publicado: (2006)

Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell
por: Mick, Eran, et al.
Publicado: (2020)

Human embryoid bodies as a novel system for genomic studies of functionally diverse cell types
por: Rhodes, Katherine, et al.
Publicado: (2022)

Single-cell transcriptome profiles of Drosophila fruitless-expressing neurons from both sexes
por: Palmateer, Colleen M, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_3nmi931hq96plcn2eurqodo8sj