Results 121 to 130 of about 3,183,009 (298)

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

Activation of systemic acquired silencing by localised introduction of DNA

, 1999
Background: In plants, post-transcriptional gene silencing results in RNA degradation after transcription. Among tobacco transformants carrying a nitrate reductase (Nia) construct under the control of the cauliflower mosaic virus 35S promoter (35S–Nia2),
Sandrine Balzergue, Jean-Christophe Palauqui, Balzergue, Sandrine, Palauqui, Jean-Christophe   +3 more
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Effect of chemical modifications on modulation of gene expression by duplex antigene RNAs that are complementary to non-coding transcripts at gene promoters

, 2010
Antigene RNAs (agRNAs) are small RNA duplexes that target non-coding transcripts rather than mRNA and specifically suppress or activate gene expression in a sequence-dependent manner.
Charisse, Klaus, Yu, Dongbo, Montaillier, Christophe, Potier, Pierre, Corey, David R., Manoharan, Muthiah, Watts, Jonathan K.   +6 more
core   +1 more source

Establishment of a TRV-VIGS system in Coix (Coix lacryma-jobi L.) for functional study of host–pathogen interactions

Frontiers in Plant Science
Coix (Coix lacryma-jobi L.) is an important cereal and medicinal crop threatened by smut disease (Ustilago coicis). However, the unavailability of rapid and efficient functional genomics tools has impeded progress in understanding gene function and host ...
Xiaosheng Zhao, Guocui Wang, Fang He, Xiang-Dong Li, Chunli Zhou, Qiuping Liu, Leitao Tan, Qingbei Weng, Qingbei Weng   +8 more
doaj   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

The silence of the genes [PDF]

Age and Ageing, 2001
openaire   +2 more sources

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Knocking down wheat meiotic genes through Virus-induced gene-silencing (VIGS)

, 2019
Virus-induced gene-silencing (VIGS) is a reverse genetic technology that can be used to assess gene function in model and crop species. The technique exploits a natural viral defence response in plants, whereby invading viral RNAs are detected, and this ...
Kanyuka, K., Higgins, J. D., Desjardins, S.   +2 more
core  

Gene silencing and applications for functional gene validation: the case of geminiviruses [PDF]

, 2011
Plants are able to recognize and degrade double-strand RNA molecules employing the mechanism of post-transcriptional gene silencing (PTGS). PTGS is both a vegetal defense strategy against viral infections and a conserved eukaryotic mechanism for regulate
Cortés, Simón Pedro, López, Camilo Ernesto   +1 more
core