Results 111 to 120 of about 344,150 (327)

Activity-regulated RNA editing in select neuronal subfields in hippocampus [PDF]

, 2012
RNA editing by adensosine deaminases is a widespread mechanism to alter genetic information in metazoa. In addition to modifications in non-coding regions, editing contributes to diversification of protein function, in analogy to alternative splicing ...
Ales Balik, Altschul, Andrew C. Penn, Aruscavage, Bass, Birney, Bratt, Brorson, Coleman, Coleman, Daniel, Darty, Dawson, de la Mata, Feldmeyer, Feng, Fisahn, Gahwiler, Gainey, Gallo, Ge, Goodman, Greger, Greger, Greger, Gurevich, Hamada, Hideyama, Hideyama, Higuchi, Higuchi, Hoopengardner, Hundley, Ingo H. Greger, Jepson, Katoh, Kent, Lee, Lein, Li, Liu, Lomeli, Maas, Marcucci, Palladino, Paul, Peng, Peng, Penn, Penn, Penn, Pozo, Rosenthal, Rueter, Ryman, Sanjana, Schoft, Seeburg, Seeburg, Sommer, Sommer, Stefl, Stefl, Tariq, Toth, Traynelis, Turrigiano, Turrigiano, Valente, Venkatesh, Wang, Witter, Xie, Zsofia Nemoda   +73 more
core   +1 more source

SKIP Regulates ABA Signaling through Alternative Splicing in Arabidopsis [PDF]

, 2022
Qi Zhang, Wei Zhang, Jianbo Wei, Zhaoxu Gao, Jianing Guan, Zhibo Cui, Xiaoxue Wang   +6 more
openalex   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

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

A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development [PDF]

, 2018
While gene expression dynamics have been extensively cataloged during hematopoietic differentiation in the adult, less is known about transcriptome diversity of human hematopoietic stem cells (HSCs) during development. To characterize transcriptional and
Barragan, Jessica, Bolondi, Adriano, Cacchiarelli, Davide, Cahan, Patrick, Califano, Andrea, Cesana, Marcella, Clement, Kendell, Daley, George Q., Doulatov, Sergei, Giorgi, Federico M., Guo, Michael H., Hirschhorn, Joel N., Meissner, Alexander, Rinn, John L., Salvatori, Beatrice, Sousa, Patricia M., T Vo, Linda, Tazon-Vega, Barbara, Trapnell, Cole, Tsanov, Kaloyan M., Wahlster, Lara   +20 more
core   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Overestimation of alternative splicing caused by variable probe characteristics in exon arrays [PDF]

, 2017
In higher eukaryotes, alternative splicing is a common mechanism for increasing transcriptome diversity. Affymetrix exon arrays were designed as a tool for monitoring the relative expression levels of hundreds of thousands of known and predicted exons ...
Gaidatzis, Dimos, Jacobeit, Kirsten, Oakeley, Edward J., Stadler, Michael B.   +3 more
core  

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Alternative splicing and disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease.
Tazi, Jamal, Bakkour, Nadia, Stamm, Stefan   +2 more
openaire   +3 more sources

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source