Results 141 to 150 of about 336,398 (336)

Quantifying alternative splicing from paired-end RNA-sequencing data

, 2014
RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at the cellular ...
Attolini, Camille Stephan-Otto, Kroiss, Manuel, Rossell, David, Stöcker, Almond   +3 more
core   +1 more source

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

Alternative Splicing Regulation of Cancer-Related Pathways in Caenorhabditis elegans: An In Vivo Model System with a Powerful Reverse Genetics Toolbox

International Journal of Cell Biology, 2013
Alternative splicing allows for the generation of protein diversity and fine-tunes gene expression. Several model systems have been used for the in vivo study of alternative splicing. Here we review the use of the nematode Caenorhabditis elegans to study
Sergio Barberán-Soler, James Matthew Ragle   +1 more
doaj   +1 more source

Identification of an alternatively spliced site in human plasma fibronectin that mediates cell type-specific adhesion. [PDF]

, 1986
Martin J. Humphries, Steven K. Akiyama, Akira Komoriya, Kenneth Olden, Kenneth M. Yamada   +4 more
openalex   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Genome-Wide Identification of Alternative Splicing in Botrytis cinerea During Infection Stage of Solanum lycopersicum

Microorganisms
Alternative splicing plays a crucial role in enhancing the protein diversity of eukaryotic genomes. However, alternative splicing has not been extensively studied in Botrytis cinerea.
Ping Lu, Yun Wang, Xiaoli Wang, Jiaqi Wang, Dan Wang, Haojie Shi   +5 more
doaj   +1 more source

A polynomial delay algorithm for the enumeration of bubbles with length constraints in directed graphs and its application to the detection of alternative splicing in RNA-seq data

, 2013
We present a new algorithm for enumerating bubbles with length constraints in directed graphs. This problem arises in transcriptomics, where the question is to identify all alternative splicing events present in a sample of mRNAs sequenced by RNA-seq ...
Lacroix, Vincent, Sacomoto, Gustavo, Sagot, Marie-France   +2 more
core   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Modularized Perturbation of Alternative Splicing Across Human Cancers

Frontiers in Genetics, 2019
Splicing perturbation in cancers contribute to different aspects of cancer cell progression. However, the complete functional impact of cancer-associated splicing have not been fully characterized.
Yabing Du, Shoumiao Li, Ranran Du, Ni Shi, Seiji Arai, Seiji Arai, Sai Chen, Aijie Wang, Yu Zhang, Zhaoyuan Fang, Tengfei Zhang, Tengfei Zhang, Wang Ma, Wang Ma   +13 more
doaj   +1 more source

Human CSF-1: gene structure and alternative splicing of mRNA precursors. [PDF]

, 1987
Martha Ladner, George A. Martin, Janelle A. Noble, D M Nikoloff, Rony Tal, Ernest S. Kawasaki, Thayer White   +6 more
openalex   +1 more source