Results 111 to 120 of about 2,934,821 (333)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
Pook, MA, Mouro Pinto, R, Al-Mahdawi, S, Trabzuni, D, Sandi, C   +4 more
core   +1 more source

Mutagenic potency of MMS-induced 1meA/3meC lesions in E. coli. [PDF]

, 2009
The mutagenic activity of MMS in E. coli depends on the susceptibility of DNA bases to methylation and their repair by cellular defense systems. Among the lesions in methylated DNA is 1meA/3meC, which is recently recognized as being mutagenic.
Janion, Celina, Jadwiga Nieminuszczy, Sikora, Anna, Joanna Krwawicz, Mielecki, Damian, Wrzesiński, Michał, MichaÅ WrzesinÌski, Celina Janion, Krwawicz, Joanna, Grzesiuk, Elzbieta, Anna Sikora, ElzÌbieta Grzesiuk, Nieminuszczy, Jadwiga, Damian Mielecki, Aleksandra Chojnacka, Chojnacka, Aleksandra   +15 more
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Phosphorylation events surrounding the DNA damage response in "Saccharomyces cerevisiae" [PDF]

, 2007
Protein phosphorylation mediated by checkpoint kinases is crucial for the cellular response to DNA damage. The sensor kinases Mec1 and Tel1 initiate the checkpoint signaling cascade by directly activating the checkpoint effector kinase Rad53.
Schleker, Thomas Andreas
core   +1 more source

Mitochondrial DNA methylation is involved in contrast-induced renal tubular epithelial cell injury

Renal Failure
Mitochondrial DNA (mtDNA) methylation may be associated with mitochondrial damage; this study investigates their relationship in contrast-induced renal tubular epithelial cell (RTEC) injury.
Meiling Lv, Manyu Zhang, Sha Chen, Sheng Lu, Dingwei Yang   +4 more
doaj   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Automated screening for oxidative or methylation-induced DNA damage in human cells

ALTEX, 2020
The assessment of genotoxicity upon exposure to chemical and environmental agents plays an important role in basic research as well as in pharmaceutical, chemical, cosmetic and food industry. Low sensitivity and lack of inter-laboratory comparability are considered problematic issues in genotoxicity testing.
Mack, Matthias, Schweinlin, Katharina, Mirsberger, Nicola, Zubel, Tabea, Bürkle, Alexander   +4 more
openaire   +4 more sources

Natural Biomaterials for Osteochondral Repair: From Source to Strategy

Advanced Healthcare Materials, EarlyView.
Biological origin‐guided overview of natural biomaterials and therapeutic strategies for osteochondral tissue engineering. The circular diagram categorizes representative materials and strategies into plant/algae‐derived, microbial‐derived, animal‐derived, and human‐derived sources, centered on an osteochondral defect repair model.
Hengyu Liu, Hanyang Zhang, Wenbo Yang, Hao Chen, Jincheng Wang, Fei Chang   +5 more
wiley   +1 more source