Results 141 to 150 of about 199,160 (290)

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Nature, 2022
Jiaming Wang, Yue Zhang, Craig A Mendonca, O. Yukselen, Khaja Muneeruddin, Lingzhi Ren, Jialing Liang, Chendong Zhou, Jun Xie, Jia Li, Zhong Jiang, Alper Kucukural, Scott A Shaffer, Guangping Gao, Dan Wang   +14 more
semanticscholar   +1 more source

A Multifunctional LNA Oligonucleotide-Based Strategy Blocks AR Expression and Transactivation Activity in PCa Cells

Molecular Therapy: Nucleic Acids, 2021
The androgen receptor (AR) plays a critical role in the development of prostate cancer (PCa) through the activation of androgen-induced cellular proliferation genes.
Daniela Castanotto, Xiaowei Zhang, Jacqueline Rüger, Jessica Alluin, Ritin Sharma, Patrick Pirrotte, Lars Joenson, Silvia Ioannou, Michael S. Nelson, Jonas Vikeså, Bo Rode Hansen, Troels Koch, Mads Aaboe Jensen, John J. Rossi, Cy A. Stein   +14 more
doaj  

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee, Yee‐Man Lau, Zhu‐Jun Cai, Wing‐Hon Lai, Lai‐Yung Wong, Hung‐Fat Tse, Kwong‐Man Ng, Chung‐Wah Siu   +7 more
doaj   +1 more source

Tyrosine decaging leads to substantial membrane trafficking during modulation of an inward rectifier potassium channel [PDF]

, 2001
Tyrosine side chains participate in several distinct signaling pathways, including phosphorylation and membrane trafficking. A nonsense suppression procedure was used to incorporate a caged tyrosine residue in place of the natural tyrosine at position ...
Brandt, Gabriel S., Dougherty, Dennis A., Karschin, Andreas, Lester, Henry A., Li, Ming, Shapovalov, George, Slimko, Eric, Tong, Yanhe   +7 more
core   +3 more sources

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase

Movement Disorders, EarlyView.
Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Georgi Krastev, Alice Saparov, Virginie Pichon, Marlène Malbos, Clarisse Scherer, Ivana Dzinovic, Matej Skorvanek, Robert Kopajtich, Holger Prokisch, Sara Silvaieh, Anna Grisold, Maria Mazurkiewicz‐Bełdzińska, Jean‐Madeleine de Sainte Agathe, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech   +21 more
wiley   +1 more source

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia.

Blood, 1994
We present in vivo evidence that there is no reduction in beta-mRNA accumulation in patients with nonsense codons in the terminal exon of the beta-globin gene.
Georgina W. Hall, S. Thein
semanticscholar   +1 more source

Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

Journal of the Formosan Medical Association, 2006
Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2.
Chih-Ping Chen, Yi-Ning Su, Chia-Cheng Hung, Jin-Chung Shih, Wayseen Wang   +4 more
doaj   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Stop that nonsense!

eLife, 2014
Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj   +1 more source