Results 61 to 70 of about 507 (138)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 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

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

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

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

Contribution of One‐Electron Oxidation of Purine and Pyrimidine Bases to the Photo‐ and Radiation‐Induced Damage to Cellular DNA

ChemPhysChem, Volume 27, Issue 15, 14 August 2026.
One‐electron oxidation of purine and pyrimidine bases of isolated and cellular DNA generates related reactive base radical cations that are converted into final decomposition products through deprotonation and hydration. In the case of guanine, the most susceptible nucleobase to one‐electron oxidants, 8‐hydroxy‐7,8‐dihydroguanyl radical, thus formed by
Jean Cadet, Dimitar Angelov, Paolo DI Mascio, J. Richard Wagner   +3 more
wiley   +1 more source

DMS‐MaPseq and DREEM Analyses Implicate the Critical Role of RNA Structural Dynamics in Turnip Yellow Mosaic Virus Pathogenicity

Advanced Science, Volume 13, Issue 43, 3 August 2026.
RNA structural profiling of Turnip Yellow Mosaic Virus by DMS‐MaPseq and DREEM analyses uncover that viral genome‐wide RSS is highly complicated and heterogeneous, with alternative RSSs widely distributed across the genome. Notably, the viral 3’ tRNA‐like structure adopts alternative conformations in vivo.
Jiaying Zhu, Changhao Li, Chisimbily Onyia, Xindi Li, Xingxing Yan, Songxiao Zhong, Taerin Oh, Xiuren Zhang   +7 more
wiley   +1 more source

The Complete Chloroplast Genome Sequences of Salvia reflexa and Genome Comparison: Implications for Phylogeny and Plant Invasion

Ecology and Evolution, Volume 16, Issue 8, August 2026.
This study reports the complete chloroplast genome of Salvia reflexa and compares it with those of other invasive and non‐invasive Salvia species to explore genomic features associated with invasiveness. The chloroplast genome exhibits a typical quadripartite structure and shows high conservation within the genus, while several hypervariable regions ...
Lina Ding, Tianhe Yang, Shuai Wang, Hanyue Zhou, Ran Xin, Qing Miao, Ping Guan, Bo Qu   +7 more
wiley   +1 more source

Clinical and genetic study of one DRPLA case

Chinese Journal of Contemporary Neurology and Neurosurgery, 2010
Objective To investigate the clinical and genetic features of dentatorubral ⁃ pallidoluysian atrophy (DRPLA). Methods The trinucleotide repeats of spinocerebellar ataxia (SCA) disease genes were detected by polymerase chain reaction (PCR) initially in ...
Ying HAO, Wei⁃hong GU, Guo⁃xiang WANG, Kang WANG, Miao JIN, Xiao⁃hui DUAN, Si⁃liu YANG   +6 more
doaj