Results 151 to 160 of about 226,212 (308)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Anticancer Sulfonamides Induce Splicing Factor RBM39 Degradation

, 2017
Anticancer sulfonamides produce aberrant splicing by inducing degradation of the splicing factor RBM39.

core   +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

Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response

Molecular Therapy: Nucleic Acids
Pancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez, Sergio Pedraza-Arevalo, Ricardo Blázquez-Encinas, Víctor García-Vioque, Antonio Agraz-Doblas, Elena M. Yubero-Serrano, Marina E. Sánchez-Frías, Raquel Serrano-Blanch, María Ángeles Gálvez-Moreno, Francisco Gracia-Navarro, Manuel D. Gahete, Álvaro Arjona-Sánchez, Raúl M. Luque, Alejandro Ibáñez-Costa, Justo P. Castaño   +14 more
doaj   +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

Full-length transcriptome sequencing provides insights into alternative splicing under cold stress in peanut

Frontiers in Plant Science
IntroductionPeanut (Arachis hypogaea L.), also called groundnut is an important oil and cash crop grown widely in the world. The annual global production of groundnuts has increased to approximately 50 million tons, which provides a rich source of ...
Xin Wang, Yue Liu, Lei Ouyang, Lei Ouyang, Ruonan Yao, Ruonan Yao, Tingting Yu, Liying Yan, Yuning Chen, Dongxin Huai, Xiaojing Zhou, Zhihui Wang, Yanping Kang, Qianqian Wang, Huifang Jiang, Yong Lei, Boshou Liao   +16 more
doaj   +1 more source

SIRT1 Undergoes Alternative Splicing in a Novel Auto-Regulatory Loop with p53

, 2010
Background The NAD-dependent deacetylase SIRT1 is a nutrient-sensitive coordinator of stress-tolerance, multiple homeostatic processes and healthspan, while p53 is a stress-responsive transcription factor and our paramount tumour suppressor. Thus, SIRT1-
Ahmed, Shafiq U., Milner, J, Jack Ford, Li, Han, Li, H, Ford, J, Serrano, M, Lynch, CJ, Milner, Jo, Ford Jack, Han Li, Blagosklonny, Mikhail V., Ahmed, Shafiq, Allison, SJ, Jo Milner, Simon J Allison, Simon J. Allison, Manuel Serrano, Warnock Lorna J., Warnock, LJ, Lorna J Warnock, Zahid H. Shah, Shafiq U Ahmed, Lorna J. Warnock, Serrano, Manuel, Shah, ZH, Lynch Cian J., Shah, Zahid H., Allison, Simon J., Shah Zahid H., Shafiq U. Ahmed, Serrano Manuel, Milner Jo, Cian J. Lynch, Lynch, Cian J., Li Han, Ahmed Shafiq U., Allison Simon J., Ford, Jack, Warnock, Lorna J., Cian J Lynch, Zahid H Shah   +41 more
core   +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

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

, 2010
Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Srirangalingam, U, David, A, Metherell, LA, Khoo, B, Clark, AJL   +4 more
core  

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