Results 81 to 90 of about 17,057 (211)

High‐density mutation tracks are associated with proton‐beam irradiation patterns in Sorghum bicolor

The Plant Genome, Volume 19, Issue 3, September 2026.
Abstract Induced mutagenesis is a cornerstone of crop functional genomics, yet the extent to which distinct radiation sources reshape the spatial distribution of mutations remains difficult to evaluate in reduced‐representation datasets. Here, we analyze a published genotyping‐by‐sequencing (GBS) panel (192,040 loci) to compare proton‐beam and gamma ...
Ezekiel Ahn, Insuck Baek, Seunghyun Lim, Louis K. Prom, Moon S. Kim, Lyndel W. Meinhardt, Clint Magill   +6 more
wiley   +1 more source

Experimenting with Trinucleotide Repeats: Facts and Technical Issues

, 2019
Part of the Methods in Molecular Biology book series (MIMB, volume 2056)International audienceTrinucleotide repeats are a peculiar class of microsatellites involved in many neurological as well as developmental disorders.
Richard, Guy-Franck, Guy-Franck Richard
core   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, Volume 100, Issue 1, Page 36-47, July 2026.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

Neurobiology of Disease, 1995
Genetic factors are of major aetiological importance in Bipolar Affective Disorder (BPAD type I and II). The exact mode of inheritance of BPAD is unknown, but the recent demonstration of anticipation suggests that dynamic mutations could be involved in ...
Kerstin Lindblad, Per-Olof Nylander, An De bruyn, Daniel Sourey, Cecilia Zander, Christer Engström, Gösta Holmgren, Tom Hudson, Jayanti Chotai, Julien Mendlewicz, Christine Van Broeckhoven, Martin Schalling, Rolf Adolfsson   +12 more
doaj   +1 more source

Tissue‐level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansion†

The Journal of Pathology, Volume 269, Issue 3, Page 262-264, July 2026.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is commonly framed as a corneal endothelial disease characterised by guttae accumulation and progressive thickening of Descemet's membrane (DM). However, clinical forms and evolutionary profiles vary widely.
Sayo Maeno, Yoshinori Oie, Chifune Kai, Kohji Nishida   +3 more
wiley   +1 more source

Percentage of different motifs in trinucleotide repeats in R. roxburghii.

, 2016
Percentage of different motifs in trinucleotide repeats in R. roxburghii.
Min Lu (238723), Huaming An (2154466), Liangliang Li (1936771)   +2 more
core   +1 more source

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis

Frontiers in Neuroscience
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID). However, its diagnostic rate needs to be improved by screening for specific populations.
Jianmei Huang, Bing Kang, Bing Kang, Xiaoliang Xia, Xiaoliang Xia, Zhenglong Guo, Zhenglong Guo, Yibing Lv, Wenke Yang, Chenyang Wang, Jinming Wang, Shixiu Liao, Shixiu Liao   +12 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Percentage of different motifs in trinucleotide repeats in Gp. lemaneiformis.

, 2013
Percentage of different motifs in trinucleotide repeats in Gp. lemaneiformis.
Binbin Li (433831), Yiyi Hu (433827), Feng Fu (218124), Jinguo Wang (433829), Weihua Guo (404773), Zhenghong Sui (433828), Lianpeng Chang (433830), Wei Zhou (24328)   +7 more
core   +1 more source