Results 101 to 110 of about 26,354 (249)

Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation

New Phytologist, EarlyView.
Summary Repetitive DNA is a feature of all organisms, ranging from archaea and plants to humans. DNA repeats can be seen both in coding and in noncoding regions of the genome. Due to the recurring nature of the sequences, simple DNA repeats tend to be more prone to errors during replication and repair, resulting in variability in their unit length ...
Sridevi Sureshkumar, Aaryan Chhabra, Ya‐Long Guo, Sureshkumar Balasubramanian   +3 more
wiley   +1 more source

Premature recruitment of oocyte pool and increased mTOR activity in Fmr1 knockout mice and reversal of phenotype with rapamycin. [PDF]

, 2018
While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known.
Ascano, M, Mok-Lin, E, Rosenwaks, Z, Serganov, A, Tuschl, T, Williams, Z   +5 more
core   +2 more sources

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli, Eugenio Mazzone, Diana Giannuzzi, Laura Marconato, Luca Aresu   +4 more
wiley   +1 more source

Emerging Links Between Ferroptosis and Neurodegeneration: Implications for Disease Mechanisms and Nutraceutical Interventions

Food Science &Nutrition, Volume 13, Issue 6, June 2025.
Ferroptosis, a controlled cell death, is driven by iron and characterized by reactive oxygen species and lipid peroxidation. The impact of lipid peroxides, GSH/GPX4, and iron metabolism–targeting small molecule inhibitors is discussed. Nucleic acids, proteins, and phytochemicals are implicated as inhibitors of ferroptosis.
Anwar Ali, Quratulain Babar, Ayesha Saeed, Domenico Sergi, Nenad Naumovski, Isam A. Mohamed Ahmed, Ghalia Shamlan, Halah Abdulrahman Hafiz, Muhammad Faisal Manzoor, Joanna Trafialek, Felix Kwashie Madilo   +10 more
wiley   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

BioTechniques, 2018
Numerous human diseases are associated with abnormal expansion of unstable trinucleotide repeats (TNRs). TNR instability mechanisms are complex, and remain only partially understood.
Elodie Dandelot, Geneviève Gourdon
doaj   +1 more source

Polyglutamine expansion induced dynamic misfolding of androgen receptor

Protein Science, Volume 34, Issue 6, June 2025.
Abstract Spinal bulbar muscular atrophy (SBMA) is caused by a polyglutamine expansion (pQe) in the N‐terminal transactivation domain of the human androgen receptor (AR‐NTD), resulting in a combination of toxic gain‐ and loss‐of‐function mechanisms. The structural basis of these processes has not been resolved due to the disordered nature of the NTD ...
Laurens W. H. J. Heling, Vahid Sheikhhassani, Julian Ng, Morris van Vliet, Alba Jiménez‐Panizo, Andrea Alegre‐Martí, Jaie Woodard, Willeke van Roon‐Mom, Iain J. McEwan, Eva Estébanez‐Perpiñá, Alireza Mashaghi   +10 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  

Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA-RNA Hybrids. [PDF]

J Phys Chem B, 2023
Fakharzadeh A, Qu J, Pan F, Sagui C, Roland C.   +4 more
europepmc   +1 more source

Etiology of prostate cancer with the TMPRSS2:ERG fusion: A systematic review of risk factors

International Journal of Cancer, Volume 156, Issue 10, Page 1898-1908, 15 May 2025.
What's new? The most common somatic alterations in primary prostate cancer are gene fusions involving TMPRSS2 and ERG. TMPRSS2:ERG‐positive cancers may be etiologically distinct from cancers without this fusion. This study sought to better understand etiologic factors underlying TMPRSS2:ERG fusion in prostate cancer via systematic review of ...
Colleen B. McGrath, Alaina H. Shreves, Megan R. Shanahan, Hannah E. Guard, Manelisi V. Nhliziyo, Claire H. Pernar, Kathryn L. Penney, Tamara L. Lotan, Michelangelo Fiorentino, Lorelei A. Mucci, Konrad H. Stopsack   +10 more
wiley   +1 more source