Results 101 to 110 of about 1,023,640 (307)

Evidence for a nuclear compartment of transcription and splicing located at chromosome domain boundaries [PDF]

, 1993
The nuclear topography of splicing snRNPs, mRNA transcripts and chromosome domains in various mammalian cell types are described. The visualization of splicing snRNPs, defined by the Sm antigen, and coiled bodies, revealed distinctly different ...
R. M. Zirbel, U. R. Mathieu, Cremer, Thomas, P. Lichter, Mathieu, U. R., Kurz, A., T. Cremer, Lichter, Peter, Zirbel, R. M., A. Kurz   +9 more
core   +1 more source

Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse [PDF]

, 2008
Includes abstract.Includes bibliographical references (leaves 125-145).This dissertation aims to examine allele-specific splicing in human and mouse using publicly available datasets.
Nembaware, Victoria Precious
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

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

RNA splicing: Out of the loop [PDF]

Current Biology, 1997
Recent functional analysis of catalytic and exon-binding domains from group II autocatalytic introns has revealed haunting similarities with small nuclear RNA sequences in the spliceosome.
openaire   +2 more sources

Differential polyadenylation of ribosomal RNA during post-transcriptional processing in Leishmania. [PDF]

, 2005
The protozoan parasite Leishmania belongs to the most ancient eukaryotic lineages and this is reflected in several distinctive biological features, such as eukaryotic polycistronic transcription and RNA trans-splicing.
Laurent, T., Chappuis, F., Llanos-Cuentas, A., Llanos-Cuentas, A, V. YARDLEY, F. CHAPPUIS, Laurent, T, T. LAURENT, Dujardin, J. C., Vandesompele, J, J.-C. DUJARDIN, DE DONCKER, S, S. RIJAL, Decuypere, S., S. DECUYPERE, Yardley, V, De Donckeri, S, Vandesompele, Jo, Rijal, S., J. AREVALO, Vandesompele, J., S. DE DONCKER, J. VANDESOMPELE, Yardley, V., Chappuis, F, Arevalo, J., Arevalo, J, Rijal, S, De Doncker, S., A. LLANOS-CUENTAS, Dujardin, JC, Decuypere, S   +31 more
core   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Structural basis for dual roles of Aar2p in U5 snRNP assembly [PDF]

, 2013
Yeast U5 small nuclear ribonucleoprotein particle (snRNP) is assembled via a cytoplasmic precursor that contains the U5-specific Prp8 protein but lacks the U5-specific Brr2 helicase.
Jovin, S.M., Beggs, J., Wahl, M., Cristao, V., Heroven, A., Cristão, V.F., Beggs, J.D., Santos, K., Santos, K.F., Holton, N., Weber, G., Mozaffari-Jovin, S., Heroven, A.C., Wahl, M.C., Lührmann, R.   +14 more
core   +1 more source

Metastasis-associated protein 1 rewires prostate cancer transcriptomes via direct RNA interactions governing gene expression and alternative splicing

Journal of International Medical Research
Objective This study investigated whether metastasis-associated protein 1 (MTA1) acts as an RNA-binding protein to directly regulate gene expression and alternative splicing in prostate cancer, thereby exploring its dual transcriptional and post ...
Guanlin Qu, Fuhao Li, Bin Wu, Enlai Li, Shen Xu, Lei Chen   +5 more
doaj   +1 more source

Dynamic Loading Regulates Meniscus‐Like Matrix Production in Human Mesenchymal Stromal Cell‐Seeded PET Scaffolds

Advanced Healthcare Materials, EarlyView.
Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira, Luisa de Roy, Anna‐Lotta Feldmeier, Mubashir Ahmad, Sofia Pilão, Maria Ahrens, Anita Ignatius, Carsten Linti, Andreas Martin Seitz   +8 more
wiley   +1 more source