Results 51 to 60 of about 10,792 (169)

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

Expandable DNA Repeat and Human Hereditary Disorders [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi, Ali Fasihi, Maryam Godarziyan, Morteza Hashemzadeh-Chaleshtori   +3 more
doaj  

Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. [PDF]

PLoS Genetics, 2011
More than 20 human neurological and neurodegenerative diseases are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1).
Zhenming Yu, Xiuyin Teng, Nancy M Bonini
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

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

PLoS Biology, 2012
Expansions of DNA trinucleotide repeats cause at least 17 inherited neurodegenerative diseases, such as Huntington's disease. Expansions can occur at frequencies approaching 100% in affected families and in transgenic mice, suggesting that specific cellular proteins actively promote (favor) expansions.
Kim Debacker, Aisling Frizzell, Olive Gleeson, Lucy Kirkham-McCarthy, Tony Mertz, Robert S Lahue   +5 more
openaire   +4 more sources

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

PLoS ONE, 2017
Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the ...
Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma   +7 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

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

Mismatch Repair Blocks Expansions of Interrupted Trinucleotide Repeats in Yeast [PDF]

Molecular Cell, 2000
Disease-causing expansions of trinucleotide repeats (TNRs) can occur very frequently. In contrast, expansions are rare if the TNR is interrupted (imperfect). The molecular mechanism stabilizing interrupted alleles and thereby preventing disease has been elusive.
Rolfsmeier, Michael L, Dixon, Michael J, Lahue, Robert S   +2 more
openaire   +2 more sources

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