Results 101 to 110 of about 248,807 (309)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Massively parallel profiling and predictive modeling of the outcomes of CRISPR/Cas9-mediated double-strand break repair. [PDF]

, 2019
Non-homologous end-joining (NHEJ) plays an important role in double-strand break (DSB) repair of DNA. Recent studies have shown that the error patterns of NHEJ are strongly biased by sequence context, but these studies were based on relatively few ...
Agarwal, Vikram, Chen, Wei, Haeussler, Maximilian, McKenna, Aaron, Noble, William Stafford, Schreiber, Jacob, Shendure, Jay, Yin, Yi   +7 more
core  

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Cardiac‐Derived ECM Microspheres for Enhanced hiPSC‐CMs Maturation

Advanced Functional Materials, EarlyView.
Cardiac extracellular matrix microspheres derived from decellularized porcine heart provide a biomimetic 3D microenvironment for human induced pluripotent stem cell–derived cardiomyocytes (hiPSC‐CMs). This platform supports short‐ and long‐term culture, enhances structural organization, and promotes electrophysiological and functional maturation of ...
Jiazhu Xu, Joel Aboagye, Marcella Edwards, Nick Rogozinski, Yufeng Wen, Angello Huerta Gomez, Zui Pan, Ge Zhang, Huaxiao Yang, Yi Hong   +9 more
wiley   +1 more source

VIVID: A qPCR‐Based Platform for Sensitive and Quantitative In Vivo Tracking of Extracellular Vesicles

Advanced Functional Materials, EarlyView.
This study introduces VIVID (Vesicle In Vivo Identification using DNA), a qPCR‐based platform that tracks PCR‐amplifiable DNA tags loaded in the EVs for accurate and quantifiable EV biodistribution in vivo. ABSTRACT Extracellular vesicles (EVs) represent promising carriers for nucleic acid therapeutics, offering advantages over synthetic nanoparticles ...
Oscar Boyadjian, Talin Ebrahimian, Jonathan Miranda O'Connor, Janusz Rak, Stephanie Lehoux, Maryam Tabrizian   +5 more
wiley   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Structure Formation in Butterfly Scales: Interplay of Genetic Control, Mechanical Instabilities, and Dynamic Material Properties

Advanced Functional Materials, EarlyView.
Butterfly wing scales are intricate cuticular functional nanosctructures. This perspective suggests that spatially varying material properties, cytoskeletal constraints, and growth‐driven mechanical instabilities shape the resulting nanoscale architectures created from single cells.
Anupama Prakash, Victoria Lloyd, Yi Yang, Anna‐Lee Jessop, Anthony McDougal, Primož Pirih, Guillaume Duclos, Andrew Parnell, Mathias Kolle, Nicola J. Nadeau, Bodo D. Wilts   +10 more
wiley   +1 more source

Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. [PDF]

, 2017
Precise genetic modifications in model animals are essential for biomedical research. Here, we report a programmable "base editing" system to induce precise base conversion with high efficiency in zebrafish. Using cytidine deaminase fused to Cas9 nickase,
Bai, Haipeng, Huang, Haigen, Li, Song, Lin, Shuo, Lu, Xiaochan, Qin, Wei, Xu, Jason, Zhang, Yihan   +7 more
core   +1 more source

Advanced 3D Platforms for Modeling CNS Neuroinflammation: Cell Integration, Techniques, and Challenges

Advanced Healthcare Materials, EarlyView.
This review summarizes the roles of key central nervous system cell types, the extracellular matrix, and the blood‐brain barrier in neuroinflammation, and their integration into diverse 3D culture systems. It examines major incorporation strategies, including direct co‐culture, hydrogel encapsulation, transwell migration assays, and bioprinting ...
Emmanuelle D. Aiyegbusi, Julia Di Stefano, Dearbhaile Dooley   +2 more
wiley   +1 more source

CAS9 is a genome mutator by directly disrupting DNA-PK dependent DNA repair pathway. [PDF]

, 2020
With its high efficiency for site-specific genome editing and easy manipulation, the clustered regularly interspaced short palindromic repeats (CRISPR)/ CRISPR associated protein 9 (CAS9) system has become the most widely used gene editing technology in ...
Chen, Qu, Fu, Xuemei, Kim, Jinchul, Liu, Jingfeng, Tang, Qingshuang, Xu, Shuxiang, Xu, Yang   +6 more
core