Results 141 to 150 of about 614,602 (305)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Non-coding RNAs and exosomal non-coding RNAs in lung cancer: insights into their functions

Frontiers in Cell and Developmental Biology
Lung cancer is the second most common form of cancer worldwide Research points to the pivotal role of non-coding RNAs (ncRNAs) in controlling and managing the pathology by controlling essential pathways. ncRNAs have all been identified as being either up-
Xiaolong Lv, Lei Yang, Yunbo Xie, Mohammad Reza Momeni   +3 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

HDAC3 inhibition mitigates acute kidney injury by alleviating RIPK1-mediated programmed necrosis

Frontiers in Pharmacology
Acute kidney injury (AKI) refers to clinical syndromes culminating in rapidly reduced renal function associated with inflammation and the demise of renal tubular epithelial cells.
Manman Xie, Manman Xie, Rui Hou, Runrun Shan, Xinyu Cheng, Pengcheng Wu, Xiufeng Luo, Yangyang Wei, Li Gao, Xiaoying Liu, Xiaoying Liu, Qi Chen   +11 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Non-coding RNAs as potential targets in metformin therapy for cancer

Cancer Cell International
Metformin, a widely used oral hypoglycemic drug, has emerged as a potential therapeutic agent for cancer treatment. While initially known for its role in managing diabetes, accumulating evidence suggests that metformin exhibits anticancer properties ...
Yihan Zhang, Yunhao Wu, Zixu Liu, Kangping Yang, Hui Lin, Kai Xiong   +5 more
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

COVID‐19 Vaccination Is Not Associated With the Development of Idiopathic Inflammatory Myositis in US Veterans

Arthritis Care &Research, EarlyView.
Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández, Naomi Schlesinger, Jorge Rojas, Jessica A. Walsh, Tawnie J. Braaten, Gary A. Kunkel, Makoto Jones, Brian C Sauer, Julio Facelli, Grant W. Cannon, Dorota Lebiedz‐Odrobina   +10 more
wiley   +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

Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?

Arthritis Care &Research, Accepted Article.
Objective The objective is to describe and compare demographic, clinical and serological characteristics of systemic sclerosis (SSc) patients according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet, Camille Guertin, Maggie Larché, Isabelle Ferdinand, Marie Hudson, May Y. Choi, Mohammed Osman, Janet Pope, Carter Thorne, Murray Baron, Canadian Scleroderma Research Group, M. Baron, M.Y. Choi, P. Docherty, P.R. Fortin, M. Fritzler, G. Gyger, S. Hoa, M. Hudson, A. Ikic, N. Jones, H. Kim, N. Khalidi, M. Larché, S. LeClercq, N. Maltez, A. Man, A. Masetto, J. Pope, D. Robinson, E. Sutton, C. Thorne, Sasha Bernatsky, Sabrina Hoa   +33 more
wiley   +1 more source