Results 111 to 120 of about 39,855 (249)

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

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks [PDF]

, 2016
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring.
Abastado, Abeliovich, Acharya, Achiron, Alan E. Tomkinson, Amiel, Anderson, Arturo López Castel, Ashizawa, August B. Pearson, Axford, Aziz, Barnes, Brunner, Cami, Campbell, Carraway, Cereghini, Christopher E. Pearson, Chung, Clark, Cleary, Cleary, Cleary, Conley, Dean, Debrauwère, Dragileva, Du, Edelmann, Erdeniz, Erdile, Farrell, Fishel, Foiry, Freudenreich, Gagan B. Panigrahi, Genschel, Giordano, Goetz, Hashem, Haugen, Hay, Hou, Jackson, Jaworski, Kang, Kantartzis, Kleczkowska, Kovtun, Kow, Levin, Li, Lin, Liu, Lopez Castel, Lopez Castel, Lopez de Munain, Lu, Mackenney, Manley, Marcadier, Martorell, Masih, Mason, Matsumura, Meghan M. Slean, Miret, Miret, Nahhas, Nenguke, Norremolle, O'Hoy, Palombo, Panigrahi, Panigrahi, Panigrahi, Panigrahi, Parniewski, Pavlov, Pearson, Pearson, Petes, Prigent, Puymirat, Risinger, Romanova, Savouret, Savouret, Schmidt, Schneider, Schumacher, Schweitzer, Seriola, Sharp, Shelbourne, Slean, Srivatsan, Stillman, Stillman, Stillman, Tam, Tang, Tome, Tome, van den Broek, Vassilev, Westmoreland, Wheeler, Yang, Zhang   +110 more
core   +2 more sources

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

Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report

Annals of Movement Disorders, 2020
DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner.
Pooja Sharma, Raja G Shaikh, Uzma Shamim, Vaishakh Anand, Biswaroop Chakrabarty, Sheffali Gulati, Akhilesh K Sonakar, Istaq Ahmad, Ajay Garg, Achal K Srivastava, Mohammed Faruq   +10 more
doaj   +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 central role of DNA damage and repair in CAG repeat diseases

Disease Models & Mechanisms, 2018
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold.
Thomas H. Massey, Lesley Jones
doaj   +1 more source

Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs’ dystrophy

Human Molecular Genetics, 2018
Fuchs’ endothelial corneal dystrophy (FECD) is the most common repeat expansion disorder. FECD impacts 4% of U.S. population and is the leading indication for corneal transplantation.
Jiaxin Hu, Ziye Rong, Xin Gong, Zhengyang Zhou, Zhengyang Zhou, V. Sharma, Chao Xing, J. Watts, D. Corey, V. Mootha   +9 more
semanticscholar   +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

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  

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Frontiers in Cellular Neuroscience, 2017
The abnormal expansion of unstable simple sequence DNA repeats can cause human disease through a variety of mechanisms, including gene loss-of-function, toxic gain-of-function of the encoded protein and toxicity of the repeat-containing RNA transcript ...
Mário Gomes-Pereira, Mário Gomes-Pereira, Darren G. Monckton   +2 more
doaj   +1 more source