Results 141 to 150 of about 156,870 (288)

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast

Disease Models & Mechanisms, 2023
Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jarosław Poznanski, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Roza Kucharczyk   +8 more
doaj   +1 more source

Annual Banned‐Substance Review 18th Edition—Analytical Approaches in Human Sports Drug Testing 2024/2025

Drug Testing and Analysis, EarlyView.
New insights into drug metabolism, distribution, elimination, and detection assays for drugs and methods of sports doping published between 2024 and 2025 are critically reviewed and evaluated in context with the Prohibited List 2025 as established by the World Anti‐Doping Agency.
Mario Thevis, Tiia Kuuranne, Hans Geyer
wiley   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Mitochondrial diseases and mtDNA editing

Genes & Diseases
Mitochondrial diseases are a heterogeneous group of inherited disorders characterized by mitochondrial dysfunction, and these diseases are often severe or even fatal. Mitochondrial diseases are often caused by mitochondrial DNA mutations. Currently, there is no curative treatment for patients with pathogenic mitochondrial DNA mutations.
Min Song, Lingqun Ye, Yongjin Yan, Xuechun Li, Xinglong Han, Shijun Hu, Miao Yu   +6 more
openaire   +3 more sources

Sex-Biased Gene Flow Among Elk in the Greater Yellowstone Ecosystem [PDF]

, 2014
We quantified patterns of population genetic structure to help understand gene flow among elk populations across the Greater Yellowstone Ecosystem.
Anderson, Neil, Beja-Pereira, Albano, Chen, Shanyuan, Cross, Paul C., Ebinger, Michael, Edwards, Hank, Garrott, Robert A., Hand, Brian K., Kardos, Marty D., Kauffman, Matt, Landguth, Erin L., Luikart, Gordon, Middleton, Arthur, Schwartz, Michael K., Scurlock, Brandon, White, P.J., Zager, Pete   +16 more
core   +1 more source

Tumor‐educated platelets in cancer diagnostics and prognostics: A critical appraisal and roadmap for clinical translation

International Journal of Cancer, EarlyView.
Abstract Tumor‐educated platelets (TEPs) are emerging as a compelling frontier in liquid biopsy, functioning as dynamic, systemic sensors that sequester and process tumor‐derived biomolecules. This interaction imprints an integrated molecular signature of malignancy—spanning the transcriptome, proteome, lipidome, and crucially, the captured genome ...
Whi‐An Kwon, Min‐Kyung Lee, Eunyong Ahn, Heeyeon Kim, Yong Sang Song, Taejin Ahn   +5 more
wiley   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

Loganin, an Iridoid Glycoside, Alleviates Paclitaxel‐Induced Skeletal Muscle Toxicity by Enhancing Mitochondrial Function, Boosting Antioxidant Defenses, and Reducing Cellular Senescence

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Mitochondrial dysfunction and energy imbalance caused by chemotherapy are key contributors to skeletal muscle atrophy, which severely impacts the quality of life in cancer patients. Paclitaxel, a commonly used chemotherapeutic agent, is known to promote muscle wasting and cellular senescence, largely by impairing mitochondrial function.
Yu‐Fan Chuang, Cai‐Rong Wu, Wan‐Hsuan Chang, Ying‐Jung Su, Hung‐Te Hsu, Fan‐Li Lin, Yi‐Ching Lo   +6 more
wiley   +1 more source