Results 61 to 70 of about 2,360,372 (228)

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

Methods for Joint Normalization and Comparison of Hi-C data

, 2019
The development of chromatin conformation capture technology has opened new avenues of study into the 3D structure and function of the genome. Chromatin structure is known to influence gene regulation, and differences in structure are now emerging as a ...
Stansfield, John C
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

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

Replication dataset for "A comprehensive review and benchmark of differential analysis tools for Hi-C data"

Processed Hi-C matrices with 3D chromatine conformation data obtained by high-throughput sequencing, corresponding to the experiments used in http://dx.doi.org/10.1093/bib/bbaf074 to benchmark differential analysis tools for Hi-C ...
Vialaneix, Nathalie, Foissac, Sylvain
core   +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

Fine mapping chromatin contacts in capture Hi-C data [PDF]

BMC Genomics, 2018
ABSTRACT Hi-C and capture Hi-C (CHi-C) are used to map physical contacts between chromatin regions in cell nuclei using high-throughput sequencing. Analysis typically proceeds considering the evidence for contacts between each possible pair of fragments independent from other pairs.
Eijsbouts, Christiaan, Burren, Oliver, Newcombe, Paul, Wallace, Chris   +3 more
openaire   +3 more sources

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

Validation of the Pediatric Arthritis Ultrasound Scoring System for the Elbow, Wrist, and Finger Joints in Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez, Pinar Ozge Avar‐Aydin, Kelly Rogers, Daniel J. Lovell, Jennifer Huggins, Alexei Grom, Hermine I. Brunner, Grant S. Schulert, Sheila T. Angeles‐Han, Mekibib Altaye, Amy Cassedy, Arthur B. Meyers, Tracy V. Ting   +12 more
wiley   +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