Results 51 to 60 of about 25,953 (158)

Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome

Scientific Reports
DNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT).
Karin Dalene Skarping, Larissa Arning, Åsa Petersén, Huu Phuc Nguyen, Samuel Gebre-Medhin   +4 more
doaj   +1 more source

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice. [PDF]

PLoS Genetics, 2013
Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy.
Stéphanie Tomé, Kevin Manley, Jodie P Simard, Greg W Clark, Meghan M Slean, Meera Swami, Peggy F Shelbourne, Elisabeth R M Tillier, Darren G Monckton, Anne Messer, Christopher E Pearson   +10 more
doaj   +1 more source

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles

Neurobiology of Disease, 2012
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant progressive neurodegenerative disorder with intellectual deterioration and various motor deficits including ataxia, choreoathetosis, and myoclonus, caused by an abnormal expansion of ...
Kazushi Suzuki, Jiayi Zhou, Toshiya Sato, Keizo Takao, Tsuyoshi Miyagawa, Mutsuo Oyake, Mitunori Yamada, Hitoshi Takahashi, Yuji Takahashi, Jun Goto, Shoji Tsuji   +10 more
doaj   +1 more source

Mechanisms of RNA-induced toxicity in CAG repeat disorders [PDF]

Cell Death & Disease, 2013
AbstractSeveral inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, which can be located either in the coding region or in the untranslated region (UTR) of the respective genes. Polyglutamine diseases (polyQ diseases) are caused by an expansion of a stretch of CAG repeats within the coding region, translating into a
Nalavade, R., Griesche, N., Ryan, Devon, Hildebrand, S., Krauss, S.   +4 more
openaire   +3 more sources

Response to the paper titled "Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy"

Neuropsychiatric Disease and Treatment, 2018
Tracey D Graves Department of Neurology, North West Anglia NHS Foundation Trust, Hinchingbrooke Hospital, Huntingdon, UKI have just read this article.1 I have issues with the authors denoting the insertion of CAG as a new mutation.
Graves TD
doaj  

Androgen receptor CAG repeat polymorphism is not associated with insulin resistance and diabetes among South Asian males

BMC Research Notes, 2017
Objective To study relationship between androgen receptor (AR) CAG repeat polymorphism, insulin resistance (IR), β-cell function and other clinical/biochemical parameters in ethnic South Asian adults.
Lasantha S. Malavige, Surani Jayawickrama, Priyanga Ranasinghe, Jonathan C. Levy   +3 more
doaj   +1 more source

Stick-slip unfolding favors self-association of expanded HTT mRNA

Nature Communications
In Huntington’s Disease (HD) and related disorders, expansion of CAG trinucleotide repeats produces a toxic gain of function in affected neurons.
Brett M. O’Brien, Roumita Moulick, Gabriel Jiménez-Avalos, Nandakumar Rajasekaran, Christian M. Kaiser, Sarah A. Woodson   +5 more
doaj   +1 more source

Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating

Behavioral and Brain Functions, 2011
Triplet repeats contribute to normal variation in behavioral traits and when expanded, cause brain disorders. While Huntington's Disease is known to be caused by a CAG triplet repeat in the gene Huntingtin, the effect of CAG repeats on brain function ...
Wassink Tom, Epping Eric A, Nopoulos Peg, Schlaggar Bradley L, Perlmutter Joel   +4 more
doaj   +1 more source

Screening of AR Gene CAG Repeat Variations in Iranian Women with Endometriosis [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Endometriosis disease is considered as a common disease dependent on androgen hormones. Androgens have different effects on endometrial growth. Androgen receptor as a signal transduction pathway could have a key role in regulating the process.
Azam Fakhri, Soyar Sari, Ahmad Ebrahimi
doaj  

The central role of DNA damage and repair in CAG repeat diseases

Disease Models & Mechanisms, 2018
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold.
Thomas H. Massey, Lesley Jones
doaj   +1 more source