Results 101 to 110 of about 161,850 (258)

Transcriptome Analyses to Investigate the Pathogenesis of RNA Splicing Factor Retinitis Pigmentosa [PDF]

, 2011
RNA-splicing factor retinitis pigmentosa (RP) is caused by mutations in components of the spliceosome. RP is an inherited blinding disorder characterized by late-onset retinal degeneration. Currently, mutations in five genes that encode components of the spliceosome have been identified to cause autosomal dominant RP.
Michael H, Farkas, Greg R, Grant, Eric A, Pierce   +2 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Targeting Post‐Irradiation Thyroid Dysfunction: Electrospun Scaffolds As A Dual‐Action Approach for Antioxidant and Immune Modulation

Advanced Healthcare Materials, EarlyView.
Radiation‐induced hypothyroidism follows head and neck radiotherapy due to oxidative stress and inflammation. Electrospun polycaprolactone scaffolds containing adenosine have potential to modulate thyroid repair. Scaffolds enhance thyrocyte proliferation, antioxidant enzymes glutathione peroxidase and catalase, reduce senescence and apoptosis markers ...
Maria Heim, Ella‐Louise Handley, Daniel Grant, Lizi M. Hegarty, Elaine Emmerson, Anthony Callanan   +5 more
wiley   +1 more source

Self‐Assembled Skin Equivalents with Monoclonal CRISPR/Cas9‐Modified N/TERT‐1 Keratinocytes: A Cutting‐Edge model for Human Skin and its Diseases

Advanced Healthcare Materials, EarlyView.
Self‐assembled, scaffold‐free full‐thickness skin equivalents with monoclonal, genetically modified N/TERT‐1 keratinocytes represent a novel in vitro model of human skin and skin diseases. The model is highly robust, reproducible, physiologically relevant, and suitable for high‐throughput applications.
Marta Slaufova, Tugay Karakaya, Michela Di Filippo, Thomas Kündig, Hans‐Dietmar Beer   +4 more
wiley   +1 more source

AEP promotes aberrant RNA splicing through DDX3X cleavage in solid tumors

The Journal of Clinical Investigation
Aberrant alternative splicing (AS) events have been identified in a variety of cancers. Although somatic mutations of splicing factors and dysregulation of RNA-binding proteins (RBPs) have been linked to AS and tumor malignancy, it remains unclear how ...
Yadong Xie, Haohao Zhang, Xinyang Song
doaj   +1 more source

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms

Nature Communications
Post-transcriptional diversification of RNA transcripts mediated by complex processing machinery, including DEAD-box ATPases, establishes and maintains cellular phenotypes.
Jeong-Ah Kim, Siqi Shen, Christina M. Jurotich, Saritha S. D’Souza, Johnathan J. Caldon, Igor I. Slukvin, Jane E. Churpek, Sunduz Keles, Emery H. Bresnick   +8 more
doaj   +1 more source

A Versatile Microfluidic Extrusion‐Based Hydrogel Platform for Self‐Organization and Long‐Term Maintenance of Engineered 3D Lymphatic Endothelium

Advanced Healthcare Materials, EarlyView.
Microfluidic coaxial extrusion generates size‐controlled 3D lymphatic tubes from primary human dermal lymphatic endothelial cells in a defined four‐component matrix. These engineered vessels self‐organize into stable lymphatic endothelium, maintain selective macromolecular permeability for 30 days, and enable direct comparison with blood endothelial ...
Elsa Mazari‐Arrighi, Adeline Boyreau, Laura Chaillot, Wilfried Souleyreau, Laetitia Andrique, Pierre‐Olivier Guichet, Thomas Mathivet, Andreas Bikfalvi, Pierre Nassoy   +8 more
wiley   +1 more source

Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations

Nature Communications
Expansion of RNA polymerase III (Pol III) activity in cancer can activate the transcription of typically silent small RNA genes, including snaR-A (small NF90-associated RNA isoform A), a hominid-specific noncoding RNA that promotes cell proliferation ...
Sihang Zhou, Simon Lizarazo, Sandip Chorghade, Leela Mouli, Ruiying Cheng, Rajendra K C, Auinash Kalsotra, Kevin Van Bortle   +7 more
doaj   +1 more source

Enhanced Infection Resistance and Regenerative Healing of Titanium Implants via Peptide‐Loaded Biodegradable Coatings

Advanced Materials Technologies, EarlyView.
This study presents a new biodegradable coating for titanium implants using a natural antimicrobial peptide, caerin 1.9. Applied via solvent casting, the coating offers sustained antibacterial protection and promotes healing. Tested on 3D‐printed porous titanium scaffolds, it effectively prevented infection—including against resistant bacteria—while ...
Hejie Li, Tianfang Wang, Nicolas Soro, Guoying Ni, Meg Allom, D. İpek Kurtböke, Xiaosong Liu, Damon Kent   +7 more
wiley   +1 more source