Results 71 to 80 of about 17,057 (211)

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

Neurobiology of Disease, 1994
CAG repeat expansion in the Huntington's disease gene (HD) was examined in postmortem brains from 310 clinically diagnosed and 15 ‘at risk’ individuals. Presence of an expanded CAG allele (>37 units) was the cause of the disorder in almost all cases (307
Francesca Persichetti, Jayalakshmi Srinidhi, Lisa Kanaley, Pei Ge, Richard H. Myers, Kenneth D'Arrigo, Glenn T. Barnes, Marcy E. MacDonald, Jean-Paul Vonsattel, James F. Gusella, Edward D. Bird   +10 more
doaj   +1 more source

Long tract of untranslated CAG repeats is deleterious in transgenic mice. [PDF]

PLoS ONE, 2011
The most frequent trinucleotide repeat found in human disorders is the CAG sequence. Expansion of CAG repeats is mostly found in coding regions and is thought to cause diseases through a protein mechanism.
Ren-Jun Hsu, Kuang-Ming Hsiao, Min-Jon Lin, Chui-Yen Li, Li-Chun Wang, Luen-Kui Chen, Huichin Pan   +6 more
doaj   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

Context Dependence of Trinucleotide Repeat Structures [PDF]

Biochemistry, 2010
Long repeated sequences of DNA and their associated secondary structure govern the development and severity of a significant class of neurological diseases. Utilizing the effect of base stacking on fluorescence quantum yield, 2-aminopurine substitutions for adenine previously demonstrated sequestered bases in the stem and exposed bases in the loop for ...
Natalya N, Degtyareva, Courtney A, Barber, Bidisha, Sengupta, Jeffrey T, Petty   +3 more
openaire   +2 more sources

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.

, 2008
International audienceOBJECTIVES: Autism (MIM#209850) and schizophrenia (MIM#181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component.
Mogenet, Agnès, Bresson, Jean-Louis, Mouren-Simeoni, Marie-Christine, Ramoz, Nicolas, Colleaux, Laurence, Laroche, Fabrice, Rousselot-Pailley, Bérangère, Philippe, Anne, Fortin, Célia, Robel, Laurence, Leroy, Sophie, Gorwood, Philip, Krebs, Marie-Odile, Simonneau, Michel, Golse, Bernard, Rousselot-Paillet, Bérangère, Galli, Thierry   +16 more
core   +1 more source

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic ...
Suzuki, Chieko, Tomiyama, Masahiko, Jackson, Mandy, Ikeda, Yoshio, Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Kawarabayashi, Takeshi, Shoji, Mikio, Wakasaya, Yasuhito, Monai, Natsuki, Kimura, Tamaki, Miki, Yasuo, Matsubara, Etsuro, Seino, Yusuke   +13 more
core   +1 more source

PlantRG: A Comprehensive and User‐Friendly Database for Plant Resistance Gene Analogs (RGAs)

Plant Biotechnology Journal, EarlyView.
ABSTRACT Resistance genes are critical for plant defence against biotic stresses, and building a comprehensive, integrated data resource platform for these genes holds great significance for plant research and agriculture. Here, we developed PlantRG (http://plantrg.bio2db.com), a user‐friendly plant resistance gene database, which is built on 2 163 397
Jinghua He, Xiao Ma, Rui Cao, Zhuo Liu, Chenhao Zhang, Wei Chen, Lusheng Guo, Zipeng Meng, Rong Zhou, Xiaoming Song   +9 more
wiley   +1 more source

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

Stem Cell Research
The PPP2R2B gene, expressed highly in the brain, harbours trinucleotide CAG repeats in the 5′UTR region, in the range of 7–42 repeats. Individuals carrying CAG repeats greater than 43 have been associated to manifest a neurodegenerative disease condition
Sana Zahra, Himanshi Kapoor, Istaq Ahmad, Asangla Kamai, Achal Kumar Srivastava, Mohammed Faruq   +5 more
doaj   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source