Results 81 to 90 of about 10,200 (202)

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Frontiers in Cellular Neuroscience, 2017
The abnormal expansion of unstable simple sequence DNA repeats can cause human disease through a variety of mechanisms, including gene loss-of-function, toxic gain-of-function of the encoded protein and toxicity of the repeat-containing RNA transcript ...
Mário Gomes-Pereira, Mário Gomes-Pereira, Darren G. Monckton   +2 more
doaj   +1 more source

Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17

Nature Communications, 2020
It is not yet clear how ubiquitously-expressed proteins can cause the selective degeneration of particular populations of neurons, such as in spinocerebellar ataxia type 17, SCA17, which results from a CAG trinucleotide repeat expansion in the ...
Qiong Liu, Shanshan Huang, Peng Yin, Su Yang, Jennifer Zhang, Liang Jing, Siying Cheng, Beisha Tang, Xiao-Jiang Li, Yongcheng Pan, Shihua Li   +10 more
doaj   +1 more source

Twisting right to left: A…A mismatch in a CAG trinucleotide repeat overexpansion provokes left-handed Z-DNA conformation.

PLoS Computational Biology, 2015
Conformational polymorphism of DNA is a major causative factor behind several incurable trinucleotide repeat expansion disorders that arise from overexpansion of trinucleotide repeats located in coding/non-coding regions of specific genes.
Noorain Khan, Narendar Kolimi, Thenmalarchelvi Rathinavelan   +2 more
doaj   +1 more source

Macular Degeneration Associated With Aberrant Expansion of Trinucleotide Repeat of the SCA7 Gene in 2 Japanese Families [PDF]

, 2000
Toshiaki Abe
openalex   +1 more source

DNA Methylation and Trinucleotide Repeat Expansion Diseases

, 2012
Copyright @ 2012 InTech This article has been made available through the Brunel Open Access Publishing Fund. This article is made available through the Brunel Open Access Publishing Fund.
openaire   +4 more sources

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Stem Cell Research, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls   +5 more
doaj  

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Frontiers in Genetics, 2018
Background:FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on ...
Vivienne J. Tan, Mulias Lian, Sultana M.H. Faradz, Tri I. Winarni, Samuel S. Chong, Samuel S. Chong, Samuel S. Chong   +6 more
doaj   +1 more source

Trinucleotide repeat expansions in familial/sporadic breast/ovarian cancer: searching for novel predisposition genes [PDF]

, 2001
Hamdi Jarjanazi, Nalan Gökgöz, Irene L. Andrulis, Hilmi Özçelik   +3 more
openalex   +1 more source

The Role of the Immune System in Triplet Repeat Expansion Diseases

Mediators of Inflammation, 2015
Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes.
Marta Olejniczak, Martyna O. Urbanek, Wlodzimierz J. Krzyzosiak   +2 more
doaj   +1 more source

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes [PDF]

, 2003
Giovanni Stévanin
openalex   +1 more source