Results 151 to 160 of about 463,626 (303)

Barcode Sequencing by Illumina NGS v1

This protocol details the extraction of genomic DNA from cells and barcode sequencing by NGS.
Nicholas A. Popp, Melinda K. Wheelock, Raining Wang, Rachel L. Powell, Douglas M. Fowler   +4 more
openaire   +1 more source

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

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Accelerating SARS-CoV-2 genomic surveillance in a routine clinical setting with nanopore sequencing

International Journal of Medical Microbiology
Background: SARS-CoV-2 genomic analysis has been key to the provision of valuable data to meet both epidemiological and clinical demands. High-throughput sequencing, generally Illumina-based, has been necessary to ensure the widest coverage in global ...
Sergio Buenestado-Serrano, Marta Herranz, Álvaro Otero-Sobrino, Andrea Molero-Salinas, Cristina Rodríguez-Grande, Amadeo Sanz-Pérez, María José Durán Galván, Pilar Catalán, Roberto Alonso, Patricia Muñoz, Laura Pérez-Lago, Darío García de Viedma   +11 more
doaj   +1 more source

Interstitium‐Mimicking Porous Alveolar Membranes Enable Physiologic Aerosol Transport and Distinct Acute‐Chronic Lung Injury Responses

Advanced Functional Materials, EarlyView.
An interstitium‐mimicking membrane combines three‐dimensional alveolar geometry, high pore interconnectivity, and mechanical compliance to overcome transport limitations of conventional lung‐on‐chip barriers. The resulting platform supports physiologic aerosol transport, quantitative analysis of cross‐barrier particle movement, and reveals divergent ...
Jae‐Won Choi, Sheng Zhang, Abbas Jalili, August Kohls, Woo‐Youl Maeng, Sikandar Azam, Wu Liu, Barbie Varghese, Yixin Zhao, Xi Ren, Shimin Liu, Si‐Yang Zheng   +11 more
wiley   +1 more source

Tuning Mechanoreceptor Signaling Enhances the Adjuvant Effect of Biomaterial Vaccines

Advanced Functional Materials, EarlyView.
Matrix stiffness serves as an independent immunological signal in biomaterial vaccines. Stiffer microporous hydrogel vaccines enhance dendritic cell maturation and migration to draining lymph nodes, promote T follicular helper cell expansion through Yap/Taz signaling, and increase antigen‐specific antibody production.
Lily Shang, Daniel P. Mayer, Prabhat K. Purbey, Yingzi Liu, Kindra Kelly‐Scumpia, Clara Kang, Natalie Tsubamoto, Dhriti Bolangadi, Iqra Arshad, Charisse Ng, Maksim V. Plikus, Dino Di Carlo, Jason S. Weinstein, Philip O. Scumpia   +13 more
wiley   +1 more source

Chamber‐Specific Decellularized Extracellular Matrices Differentially Modulate Cardiomyocyte Subtypes to Drive Engineered Heart Tissue Development and Function

Advanced Healthcare Materials, EarlyView.
Chamber‐specific decellularized extracellular matrices (ECMs) were developed, preserving native proteomic profiles of ventricular and atrial myocardium. These innate biochemical cues differentially modulate cardiomyocyte subtypes to drive engineered heart tissue development and function, highlighting the importance of incorporating regional ECM cues in
Dong Gyu Hwang, Myungji Kim, Hwanyong Choi, Jinseon Park, Minji Kim, Donghwan Kim, Bo Ram Lee, Jinah Jang   +7 more
wiley   +1 more source

Identification of plasmids in avian-associated Escherichia coli using nanopore and illumina sequencing. [PDF]

BMC Genomics, 2023
Sanderson H, McCarthy MC, Nnajide CR, Sparrow J, Rubin JE, Dillon JR, White AP.   +6 more
europepmc   +1 more source

A Novel Perfused Full‐Thickness Human Skin Microphysiological System for Modeling Injury, Regeneration, Tumor Pathophysiology, and Therapeutics Development

Advanced Healthcare Materials, EarlyView.
What if human skin could remain fully alive and functional outside the body for weeks? A New Alternative Method (NAM) based on a vascularized full‐thickness skin microphysiological system achieves precisely this, preserving native vasculature, resident immunity, and metabolic activity for up to three weeks, while faithfully recapitulating radiation ...
Yusuf Surucu, Hamid Malekzadeh, Alexa Rivera Del Rio Hernandez, Naresh Mahajan, Ethan Banks, Dayyan Ur Rahman, José A. Arellano, Katherine S. Yang, Alexey Altman, G.V. Naveen Kumar, Matthew L. Steinhauser, Jeffrey A. Gusenoff, J. Peter Rubin, Asim Ejaz   +13 more
wiley   +1 more source

Multifunctional Catechol‐Functionalized Cellulose Hydrogels for the Minimally Invasive Treatment of Acute Optic Nerve Injuries

Advanced Healthcare Materials, EarlyView.
Catechol‐functionalized cellulose hydrogels are developed as injectable, bioadhesive platforms for retinal neuroprotection. The hydrogels exhibit tunable rheological and mechanical properties, strong tissue adhesion, and sustained antioxidative activity.
Kai‐Hsiang Chang, Yi‐Ke Lin, Wei‐Li Chen, Ta‐Ching Chen, Jiashing Yu   +4 more
wiley   +1 more source