Results 101 to 110 of about 344,150 (327)

Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]

, 2018
Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative, Han, Seonggyun, Horgousluoglu, Emrin, Kim, Dokyoon, Kim, Dongwook, Lee, Younghee, Nho, Kwangsik, Risacher, Shannon L., Saykin, Andrew J.   +8 more
core  

evolution, structure and function of metazoan splicing factor PRPF39 [PDF]

, 2019
In the yeast U1 snRNP the Prp39/Prp42 heterodimer is essential for early steps of spliceosome assembly. In metazoans no Prp42 ortholog exists, raising the question how the heterodimer is functionally substituted.
Bortoli, Francesca De, Heyd, Florian, Kotte, Ana, Loll, Bernhard, Neumann, Alexander, Schüler, Thomas, Timmermann, Bernd, Wahl, Markus C.   +7 more
core   +1 more source

An alternative splicing variant of PtRD26 delays leaf senescence by regulating multiple NAC transcription factors in Populus

, 2021
Hou‐Ling Wang, Yi Zhang, Ting Wang, Qi Yang, Yanli Yang, Ze Li, Bosheng Li, Xing Wen, Wenyang Li, Weilun Yin, Xinli Xia, Hongwei Guo, Zhonghai Li   +12 more
openalex   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

SplicingTypesAnno: Annotating and quantifying alternative splicing events for RNA-Seq data [PDF]

, 2015
© 2015 Elsevier Ireland Ltd. Alternative splicing plays a key role in the regulation of the central dogma. Four major types of alternative splicing have been classified as intron retention, exon skipping, alternative 5 splice sites or alternative donor ...
Guo, J, Ru, Y, Sablok, G, Sun, X, Yan, X, Zuo, F   +5 more
core   +1 more source

HP1 Is Involved in Regulating the Global Impact of DNA Methylation on Alternative Splicing

Cell Reports, 2015
The global impact of DNA methylation on alternative splicing is largely unknown. Using a genome-wide approach in wild-type and methylation-deficient embryonic stem cells, we found that DNA methylation can either enhance or silence exon recognition and ...
Ahuvi Yearim, Sahar Gelfman, Ronna Shayevitch, Shai Melcer, Ohad Glaich, Jan-Philipp Mallm, Malka Nissim-Rafinia, Ayelet-Hashahar S. Cohen, Karsten Rippe, Eran Meshorer, Gil Ast   +10 more
doaj   +1 more source

New insights into molecular changes in skeletal muscle aging and disease: Differential alternative splicing and senescence

, 2021
Elizaveta M. Solovyeva, Chikwendu Ibebunjo, Stephan Utzinger, John K. Eash, Andrew Dunbar, Ulrike Naumann, Yunyu Zhang, Fabrizio C. Serluca, Sabrina Demirci, Berndt Oberhauser, Frederique Black, Martin Rausch, Sebastian Hoersch, Angelika Meyer   +13 more
openalex   +1 more source

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

FEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl, Khawar Amin, Lydia Gabriel, Nils Hampel, Afshin Iram, Julia Hesse, Constanze Wiek, Jasmin Thuy Vy Nguyen, Helmut Hanenberg, Jürgen Scheller, M. Reza Ahmadian, Björn Stork, Doreen M. Floss, Roland P. Piekorz   +13 more
wiley   +1 more source

Detecting differential usage of exons from RNA-Seq data [PDF]

, 2012
RNA-Seq is a powerful tool for the study of alternative splicing and other forms of alternative isoform expression. Understanding the regulation of these processes requires comparisons between treatments, tissues or conditions.
Alejandro Reyes, Simon Anders, Wolfgang Huber   +2 more
core   +3 more sources

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source