Results 81 to 90 of about 1,142,692 (261)

RNA splicing dysregulation and the hallmarks of cancer

Nature Reviews. Cancer, 2023
R. Bradley, Olga Anczuków
semanticscholar   +1 more source

SF3B2-mediated RNA splicing drives human prostate cancer progression.

Cancer Research, 2019
Androgen receptor splice variant-7 (AR-V7) is a constitutively active AR variant implicated in castration-resistant prostate cancers. Here, we show that the RNA splicing factor SF3B2, identified by in silico and CRISPR/Cas9 analyses, is a critical ...
Norihiko Kawamura, Keisuke Nimura, K. Saga, Airi Ishibashi, Koji Kitamura, Hiromichi Nagano, Y. Yoshikawa, Kyoso Ishida, N. Nonomura, M. Arisawa, Jun Luo, Y. Kaneda   +11 more
semanticscholar   +1 more source

The role of circular RNAs in regulating cytokine signaling in cancer

FEBS Open Bio, EarlyView.
Cytokines present in the tumor microenvironment fuel cancer development. Aberrant expression of circRNAs contributes to cancer progression. Cytokines are involved in regulating circRNA biogenesis. Furthermore, aberrantly expressed circRNAs regulate the expression of ligands, receptors, and downstream effectors involved in cytokine signaling to promote ...
Vandana Joshi, Swati, Amit Mishra, Amaresh Panda, Vivek Sharma   +4 more
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

Human Molecular Genetics, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 protein is present in a small subset of FSHD muscle cells, making its detection
Amanda M. Rickard, Lisa M. Petek, Daniel G. Miller   +2 more
semanticscholar   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Deep proteomic network analysis of Alzheimer’s disease brain reveals alterations in RNA binding proteins and RNA splicing associated with disease

Molecular Neurodegeneration, 2018
The complicated cellular and biochemical changes that occur in brain during Alzheimer’s disease are poorly understood. In a previous study we used an unbiased label-free quantitative mass spectrometry-based proteomic approach to analyze these changes at ...
Erik C.B. Johnson, E. Dammer, D. Duong, Luming Yin, M. Thambisetty, J. Troncoso, J. Lah, A. Levey, N. Seyfried   +8 more
semanticscholar   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Dysregulation of RNA Splicing in Tauopathies

Cell Reports, 2019
Summary: Pathological aggregation of RNA binding proteins (RBPs) is associated with dysregulation of RNA splicing in PS19 P301S tau transgenic mice and in Alzheimer’s disease brain tissues. The dysregulated splicing particularly affects genes involved in
Daniel J. Apicco, Cheng Zhang, Brandon Maziuk, Lulu Jiang, Heather I. Ballance, Samantha Boudeau, Choong Ung, Hu Li, Benjamin Wolozin   +8 more
doaj  

RNA-Binding Proteins: Splicing Factors and Disease

Biomolecules, 2015
Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes.
Alger M. Fredericks, Kamil J. Cygan, Brian A. Brown, William G. Fairbrother   +3 more
doaj   +1 more source