Results 61 to 70 of about 10,792 (169)

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

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

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Stem Cell Research, 2019
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord.
Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French   +6 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

THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)

Офтальмохирургия, 2017
Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).Material and methods.
B. E. Malyugin, O. P. Antonova, L. O. Skorodumova, E. I. Sharova, O. V. Selezneva, S. A. Danilenko, E. S. Kostryukova   +6 more
doaj  

Should we perform systematic electrophysiological study in Steinert's disease?

Journal of Cardiothoracic Surgery, 2008
Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome ...
Fayssoil Abdallah
doaj   +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

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source