Results 1 to 10 of about 139,767 (115)

Accurate DNA methylation predictor for C9orf72 repeat expansion alleles in the pathogenic range [PDF]

HGG Advances
Summary: The hexanucleotide (G4C2) repeat expansion in the promoter region of C9orf72 is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Naren Ramesh, Alexandria Evans, Kevin Wojta, Zhongan Yang, Marco P. Boks, René S. Kahn, Sterre C.M. de Boer, Sven J. van der Lee, Yolande A.L. Pijnenburg, Lianne M. Reus, Roel A. Ophoff   +10 more
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TCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy [PDF]

Scientific Reports
The aims of this study were to use an isogenic cell model system to investigate the proteomic consequences of TCF4 trinucleotide repeat expansion in Fuchs endothelial corneal dystrophy (FECD) and to identify potential molecular pathways contributing to ...
Taichi Yuasa, Tatsuya Nakagawa, Tetsuro Honda, Go Nishiuchi, Masakazu Sato, Ayumi Tokunaga, Makiko Nakahara, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Prema Padmanabhan, Amit Chatterjee, Gajanan Sathe, Vivek Ghose, Narayanan Janakiraman, Noriko Koizumi, Sailaja V. Elchuri, Naoki Okumura   +17 more
doaj   +2 more sources

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion [PDF]

Molecular Neurodegeneration
Background The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia.
Evan Udine, NiCole A. Finch, Mariely DeJesus-Hernandez, Jazmyne L. Jackson, Matthew C. Baker, Siva Arumugam Saravanaperumal, Eric Wieben, Mark T.W. Ebbert, Jaimin Shah, Leonard Petrucelli, Rosa Rademakers, Björn Oskarsson, Marka van Blitterswijk   +12 more
doaj   +2 more sources

Subtelomeric repeat expansion in Hydractinia symbiolongicarpus chromosomes [PDF]

Mobile DNA
Despite the striking conservation of animal chromosomes, their repetitive element complements are vastly diverse. Only recently, high quality chromosome-level genome assemblies enabled identification of repeat compositions along a broad range of animal ...
Tetsuo Kon, Koto Kon-Nanjo, Oleg Simakov
doaj   +2 more sources

The C9ORF72 repeat expansion alters neurodevelopment

Cell Reports, 2023
Summary: Genetic mutations that cause adult-onset neurodegenerative diseases are often expressed during embryonic stages, but it is unclear whether they alter neurodevelopment and how this might influence disease onset. Here, we show that the most common
Eric Hendricks, Alicia M. Quihuis, Shu-Ting Hung, Jonathan Chang, Nomongo Dorjsuren, Balint Der, Kim A. Staats, Yingxiao Shi, Naomi S. Sta Maria, Russell E. Jacobs, Justin K. Ichida   +10 more
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Progressive GAA.TTC repeat expansion in human cell lines. [PDF]

PLoS Genetics, 2009
Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA.TTC repeat expansion in the ...
Scott Ditch, Mimi C Sammarco, Ayan Banerjee, Ed Grabczyk   +3 more
doaj   +1 more source

Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member

Stem Cell Research, 2023
The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower ...
Chiara Lattuada, Serena Santangelo, Silvia Peverelli, Philip McGoldrick, Ekaterina Rogaeva, Lorne Zinman, Georg Haase, Vincent Géli, Vincenzo Silani, Janice Robertson, Antonia Ratti, Patrizia Bossolasco   +11 more
doaj   +1 more source

Mitochondrial Dysfunction in Repeat Expansion Diseases

Antioxidants, 2023
Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described.
Alberto Giménez-Bejarano, Eva Alegre-Cortés, Sokhna M. S. Yakhine-Diop, Patricia Gómez-Suaga, José M. Fuentes   +4 more
doaj   +1 more source

Triplet-primed PCR and Melting Curve Analysis for Rapid Molecular Screening of Spinocerebellar Ataxia Types 1, 2, and 3

Bio-Protocol, 2023
There are more than 40 types of spinocerebellar ataxia (SCA), most of which are caused by abnormal expansion of short tandem repeats at various gene loci.
Mulias Lian, Mingjue Zhao, Gui- Phang, Indhu- Rajan-Babu, Samuel Chong   +4 more
doaj   +1 more source

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

Frontiers in Cellular Neuroscience, 2021
More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ...
Mário Gomes-Pereira, Darren G. Monckton
doaj   +1 more source