Results 91 to 100 of about 14,864,540 (284)

Feasibility and Tolerability of Performing Portable MRI for Neurological Disorders in an Outpatient Neurology Clinic: A Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick, Nomin Enkhtsetseg, Joseph Sadok, Matheus Mochetti, Annabel Sorby Adams, Jennifer Guo, Cristina Trapaga Hacker, Isabella Gomez Hjerthen, Seungwon Lee, Siddharth Satish, Andrew S. Ham, Justin Hill, Denis Balaban, Kevin Kyle, Rebecca L. Gillani, Marcelo Matiello, Aleksandar Videnovic, Eric C. Klawiter, W. Taylor Kimberly, Farrah J. Mateen   +19 more
wiley   +1 more source

Detecting community structures in Hi-C genomic data [PDF]

2016 Annual Conference on Information Science and Systems (CISS), 2016
Community detection (CD) algorithms are applied to Hi-C data to discover new communities of loci in the 3D conformation of human and mouse DNA. We find that CD has some distinct advantages over pre-existing methods: (1) it is capable of finding a variable number of communities, (2) it can detect communities of DNA loci either adjacent or distant in the
Irineo Cabreros, Emmanuel Abbe, Aristotelis Tsirigos   +2 more
openaire   +2 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

NeoHiC: A Web Application for the Analysis of Hi-C Data [PDF]

, 2020
High-throughput sequencing Chromosome Conformation Capture (Hi-C) allows the study of chromatin interactions and 3D chromosome folding on a larger scale. A graph-based multi-level representation of Hi-C data is essential for proper visualisation of the spatial pattern they represent, in particular for comparing different experiments or for re-mapping ...
D'Agostino D, Lio P, Aldinucci M, Merelli I   +3 more
openaire   +6 more sources

8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness

BMC Urology, 2020
Background The four most commonly-mutated genes in clear cell renal cell carcinoma (ccRCC) tumors are BAP1, PBRM1, SETD2 and VHL. And, there are currently 14 known RCC germline variants that have been reproducibly shown to be associated with RCC risk ...
Jeanette E. Eckel-Passow, Huihuang Yan, Matthew L. Kosel, Daniel Serie, Paul A. Decker, Robert B. Jenkins, Brian Costello, Bradley Leibovich, Thai H. Ho, Alexander Parker   +9 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

On the relation of phase separation and Hi-C maps to epigenetics [PDF]

Royal Society Open Science, 2019
Abstract The relationship between compartmentalisation of the genome and epigenetics is long and hoary. In 1928 Heitz defined heterochromatin as the largest differentiated chromatin compartment in eukaryotic nuclei. Müller’s (1930) discovery of position-effect variegation (PEV) went on to show that heterochromatin is ...
Singh, Prim B., Newman, Andrew G.
openaire   +4 more sources

Correction: MaxHiC: A robust background correction model to identify biologically relevant chromatin interactions in Hi-C and capture Hi-C experiments.

PLoS Computational Biology, 2022
[This corrects the article DOI: 10.1371/journal.pcbi.1010241.].
Hamid Alinejad-Rokny, Rassa Ghavami Modegh, Hamid R Rabiee, Ehsan Ramezani Sarbandi, Narges Rezaie, Kin Tung Tam, Alistair R R Forrest   +6 more
doaj   +1 more source

Hi-C and HiChIP

, 2022
#For HiC: #install Juicer as introduced as https://github.com/aidenlab/juicer based on your cluster type.  #Run: juicer.sh -g hg19 -s MboI #Call Loops juicebox hiccups -m 512 -k KR -r 5000,10000,25000 -f .2,.2,.2 -p 4,2,1 -i 7,5,3 -t 0.05,1.25,1.25,1.5 ...
Beisi Xu (6037520)
core   +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