Results 51 to 60 of about 507 (138)

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

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

Conformational and migrational dynamics of slipped-strand DNA three-way junctions containing trinucleotide repeats

Nature Communications, 2021
DNA three-way junctions are branched structures formed during replication, repair, and recombination, and are involved in models of repeat expansion. Here the authors use single-molecule Förster resonance energy transfer to reveal the dynamics of DNA ...
Tianyu Hu, Michael J. Morten, Steven W. Magennis   +2 more
doaj   +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

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

PLoS ONE, 2012
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau, Juliane Winkelmann, Dan Rujescu, Ina Giegling, Nikolaos Koutsouleris, Christian Gaser, Milan Arsic, Adolph Weindl, Maximilian Reiser, Eva M Meisenzahl   +9 more
doaj   +1 more source

Salivary Viscosity as a Non‐Invasive Candidate Biomarker Associated With Aspiration Risk in Oculopharyngeal Muscular Dystrophy

Journal of Oral Rehabilitation, EarlyView.
Patients with oculopharyngeal muscular dystrophy exhibit disease‐specific salivary hyperviscosity that tracks with dysphagia severity and airway invasion. Non‐invasive chairside screening of salivary viscosity may enable clinicians to stratify aspiration risk during routine care to prevent severe pulmonary complications.
Alex Zvulunov, Rawan Saif, Liraz Olmer, Merav Ben‐David, Limor Benyamini, Amir Dori, Noam Yarom, Lior Greenbaum, Ephraim Tzur, Silvina Friedlander‐Barenboim   +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

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

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

Variant‐Specific Landscape of Mutual Exclusivity Among BRAF, EGFR, and KRAS Oncogenes Reveals Overlap With Functionally Antagonistic Mutant Pairs

International Journal of Cancer, Volume 159, Issue 7, Page 1715-1734, 1 October 2026.
Mutual exclusivity and co‐occurrence of oncogenic mutations reflect functional antagonism or dependence and may inform therapeutic strategies. However, most studies overlook variant‐level patterns. In this comprehensive, cross‐cohort analysis of BRAF, KRAS, and EGFR mutation subtypes, the most significant mutual exclusivity pairs overlapped with ...
Freya Vaeyens, Jan‐Patrick Hetzel, Khaldoon Abdullah, Carolien Eggermont, Catharina Olsen, Marco Mernberger, Ken Maes, Jelle Vlaeminck, Rainer Claus, Dries Vanisterbecq, Frederik Hes, Martin Pichler, Philippe Giron, Oleg Timofeev, Maxim Noeparast   +14 more
wiley   +1 more source