Results 81 to 90 of about 41,584,039 (265)

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

GITAR: An Open Source Tool for Analysis and Visualization of Hi-C Data

Genomics, Proteomics & Bioinformatics, 2018
Interactions between chromatin segments play a large role in functional genomic assays and developments in genomic interaction detection methods have shown interacting topological domains within the genome.
Riccardo Calandrelli, Qiuyang Wu, Jihong Guan, Sheng Zhong   +3 more
doaj   +1 more source

Hi-C read-pair classifications.

, 2021
A reference-based classification scheme for read-pairs generated by the Hi-C protocol has previously been devised [11, 13]. Regardless of orientation, read-pairs are considered valid if two or more intervening enzymatic cut-site exist between them ...
Matthew Z. DeMaere (6404834), Aaron E. Darling (9287969)   +1 more
core   +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

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

Application of Hi-C and other omics data analysis in human cancer and cell differentiation research

Computational and Structural Biotechnology Journal, 2021
With the development of 3C (chromosome conformation capture) and its derivative technology Hi-C (High-throughput chromosome conformation capture) research, the study of the spatial structure of the genomic sequence in the nucleus helps researchers ...
Haiyan Gong, Yi Yang, Sichen Zhang, Minghong Li, Xiaotong Zhang   +4 more
doaj   +1 more source

Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali, Priyanka Menon, Halil I. Corbali, Ram Jagannathan, Allan I. Levey   +4 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

FAN-C: a feature-rich framework for the analysis and visualisation of chromosome conformation capture data

Genome Biology, 2020
Chromosome conformation capture data, particularly from high-throughput approaches such as Hi-C, are typically very complex to analyse. Existing analysis tools are often single-purpose, or limited in compatibility to a small number of data formats ...
Kai Kruse, Clemens B. Hug, Juan M. Vaquerizas   +2 more
doaj   +1 more source

HiCHap: a package to correct and analyze the diploid Hi-C data

BMC Genomics, 2020
Background In diploid cells, it is important to construct maternal and paternal Hi-C contact maps respectively since the two homologous chromosomes can differ in chromatin three-dimensional (3D) organization.
Han Luo, Xinxin Li, Haitao Fu, Cheng Peng   +3 more
doaj   +1 more source