Results 91 to 100 of about 466,963 (251)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Polymorphism of the BoLA-DRB3 gene in the Ukrainian brown breed

Біологія тварин
The article presents the results of a study of polymorphism in the Ukrainian Brown breed (UB) for the BoLA-DRB3 gene. Experimental data were obtained using the PCR-PCRF method.
N. B. Mokhnachova, T. M. Suprovych, M. P. Suprovych   +2 more
doaj   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Molecular characterization and relationships among some fig (Ficus carica L.) genotypes from the collection of the Faculty of Horticulture, Bucharest, using simple sequence repeat (SSR) markers

Romanian Journal of Horticulture
The development of molecular marker technology in the late 20th century has revolutionized plant breeding, particularly for minor species that previously lacked sufficient data.
Emilia Moisescu, Sevin Teoman Duran, Yaren Insel, Busra Oler, Adrian Peticilă, Florin Stănică   +5 more
doaj   +1 more source

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis–Associated Interstitial Lung Disease Risk

Arthritis Care &Research, EarlyView.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase‐7 (MMP‐7), and serum anti–malondialdehyde‐acetaldehyde (anti‐MAA) antibody for rheumatoid arthritis (RA)–associated interstitial lung disease (ILD) risk stratification.
Kelsey Coziahr, Austin M. Wheeler, Brent A. Luedders, Michael Duryee, Halie Frideres, Katherine D. Wysham, Grant W. Cannon, Gary Kunkel, Dana P. Ascherman, Paul A. Monach, Gail S. Kerr, Andreas M. Reimold, Scott M. Matson, Joshua F. Baker, Geoffrey M. Thiele, Ted R. Mikuls, Bryant R. England   +16 more
wiley   +1 more source

Effect of Implementing a Dashboard With or Without a Best Practice Alert on HLA‐B*58:01 Testing Rates Among Allopurinol Users at VA Medical Centers

Arthritis Care &Research, EarlyView.
Objective The American College of Rheumatology recommends HLA‐B*58:01 allele testing before the initiation of allopurinol, specifically among Asian and African American/Black patients, due to their increased risk for severe hypersensitivity reactions. However, testing rates remain low at many health care facilities.
Abimbola Fadairo‐Azinge, Gabriela Schmajuk, Sristi Sharma, Colleen P. Flanagan, Sara Faghihi‐Kashani, Ning Zhang, Mary A. Whooley   +6 more
wiley   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Allele [PDF]

, 2011
  +6 more sources

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, Accepted Article.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the CARRA, SPARTAN, and PRCSG Advisory Council   +9 more
wiley   +1 more source

GPR124 Alleviates Blood–Brain Barrier Disruption by Enhancing Microvascular Endothelial Function after Traumatic Brain Injury

Advanced Science, EarlyView.
Our study reveals the protective role of GPR124 in maintaining BBB integrity and promoting neurological recovery following TBI. It makes a significant contribution by uncovering a novel molecular interaction between GPR124 and FGFBP1 and linking this to activation of the Wnt/β‐catenin signaling pathway in vascular repair mechanisms.
Chen Wang, Lin Cai, Qiuyuan Gong, Yang Yang, Yuqing Liang, Xinyu Niu, Lai Wei, Ze Liu, Shengju Wu, Yinghui Men, Yaohui Tang, Jun Ding, Hengli Tian, Hao Chen   +13 more
wiley   +1 more source