Results 71 to 80 of about 215,700 (227)

DeCOOC Deconvoluted Hi‐C Map Characterizes the Chromatin Architecture of Cells in Physiologically Distinctive Tissues

Advanced Science, 2023
Deciphering variations in chromosome conformations based on bulk three‐dimensional (3D) genomic data from heterogenous tissues is a key to understanding cell‐type specific genome architecture and dynamics.
Junmei Wang, Lu Lu, Shiqi Zheng, Danyang Wang, Long Jin, Qing Zhang, Mingzhou Li, Zhihua Zhang   +7 more
doaj   +1 more source

Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions

Plants, 2023
High-throughput chromosome conformation capture (Hi-C) is widely used for scaffolding in de novo assembly because it produces highly contiguous genomes, but its indirect statistical approach can introduce connection errors.
Luca Marcolungo, Leonardo Vincenzi, Matteo Ballottari, Michela Cecchin, Emanuela Cosentino, Thomas Mignani, Antonina Limongi, Irene Ferraris, Matteo Orlandi, Marzia Rossato, Massimo Delledonne   +10 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Enhancing Hi-C data resolution with deep convolutional neural network HiCPlus

Nature Communications, 2018
Despite its popularity for measuring the spatial organization of mammalian genomes, the resolution of most Hi-C datasets is coarse due to sequencing cost. Here, Zhang et al.
Yan Zhang, Lin An, Jie Xu, Bo Zhang, W. Jim Zheng, Ming Hu, Jijun Tang, Feng Yue   +7 more
doaj   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Frailty Predicts Incident Osteoporotic Fractures in Veterans with Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Rheumatoid arthritis (RA) is associated with an increased risk of frailty and osteoporosis, but the relationship between frailty and incident osteoporotic fractures in RA is underexplored. Methods Data were from the Veterans Affairs (VA) Rheumatoid Arthritis Registry. Frailty was measured using the VA Frailty Index (VAFI).
Katherine D. Wysham, Hannah F. Brubeck, Aaron Baraff, Punyasha Roul, Namrata Singh, James S. Andrews, Grant W. Cannon, Gary A. Kunkel, Ted R. Mikuls, Bryant R. England, Dolores M. Shoback, Patricia P. Katz, Jose M. Garcia, Ariela R. Orkaby, Joshua F. Baker   +14 more
wiley   +1 more source

PHi-C: deciphering Hi-C data into polymer dynamics [PDF]

NAR Genomics and Bioinformatics, 2019
Computational modelling methods for Hi-C data have revealed averaged and static features of the 3D genome in cell nuclei. Here, we describe a 4D simulation method, PHi-C (Polymer dynamics deciphered from Hi-C data), that depicts dynamic 3D genome features through polymer modelling.
Soya Shinkai, Masaki Nakagawa, Takeshi Sugawara, Yuichi Togashi, Hiroshi Ochiai, Ryuichiro Nakato, Yuichi Taniguchi, Shuichi Onami   +7 more
openaire   +2 more sources

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

Arthritis Care &Research, EarlyView.
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 Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source