Results 41 to 50 of about 335,173 (238)

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

Molecular Genetics & Genomic Medicine, 2022
Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia.
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar   +13 more
doaj   +1 more source

Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]

, 2015
Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P, Dykstra-Aiello, Cheryl, Ho, Carolyn, Hull, Heather, Jickling, Glen C, Liu, DaZhi, Orantia, Miles, Stamova, Boryana, Zhan, Xinhua   +8 more
core   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Structural Correlation Based Method for Image Forgery Classification and Localization

Applied Sciences, 2020
In the image forgery problems, previous works has been chiefly designed considering only one of two forgery types: copy-move and splicing. In this paper, we propose a scheme to handle both copy-move and splicing image forgery by concurrently classifying ...
Nam Thanh Pham, Jong-Weon Lee, Chun-Su Park   +2 more
doaj   +1 more source

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons [PDF]

, 2014
Alternative splicing—the production of multiple messenger RNA isoforms from a single gene—is regulated in part by RNA binding proteins. While the RBPs transformer2 alpha (Tra2α) and Tra2β have both been implicated in the regulation of alternative ...
Austin, Caroline A., Best, Andrew, Chabot, Benoit, Cheong Lee, Ka, Cowell, Ian G., Curk, Tomaz, Dalgliesh, Caroline, Danilenko, Marina, Elliott, David J., Hong, Elaine, Hussain, Rafiq, James, Katherine, Keavney, Bernard, Kheirolahi-Kouhestani, Mahsa, Klinck, Roscoe, Santibanez Koref, Mauro, Tyson-Capper, Alison, Venables, Julian P., Wipat, Anil, Xu, Yaobo   +19 more
core   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Clinical and molecular significance of the RNA m6A methyltransferase complex in prostate cancer

Frontiers in Genetics, 2023
N6-methyladenosine (m6A) is the most abundant internal mRNA modification and is dynamically regulated through distinct protein complexes that methylate, demethylate, and/or interpret the m6A modification.
Jennifer Lothion-Roy, Jennifer Lothion-Roy, Daisy B. Haigh, Daisy B. Haigh, Anna E. Harris, Anna E. Harris, Veronika M. Metzler, Mansour Alsaleem, Mansour Alsaleem, Mansour Alsaleem, Michael S. Toss, Michael S. Toss, Yousif Kariri, Yousif Kariri, Yousif Kariri, Atara Ntekim, Atara Ntekim, Brian D. Robinson, Francesca Khani, Lorraine J. Gudas, Cinzia Allegrucci, Cinzia Allegrucci, Victoria H. James, Victoria H. James, Srinivasan Madhusudan, Srinivasan Madhusudan, Melissa Mather, Richard D. Emes, Nathan Archer, Rupert G. Fray, Emad Rakha, Jennie N. Jeyapalan, Jennie N. Jeyapalan, Catrin S. Rutland, Nigel P. Mongan, Nigel P. Mongan, Nigel P. Mongan, Corinne L. Woodcock, Corinne L. Woodcock   +38 more
doaj   +1 more source

A unified mechanism for intron and exon definition and back-splicing. [PDF]

, 2019
The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Cui, Yanxiang, Das, Rhiju, Espinosa, Sara, Hansen, Kirk C, Hill, Ryan C, Issaian, Aaron, Kappel, Kalli, Li, Xueni, Liu, Shiheng, Shi, Shasha, Zhang, Lingdi, Zhao, Rui, Zhou, Z Hong   +12 more
core  

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E, Camarda, Roman, Caswell, Jennifer L, Goga, Andrei, Hu, Donglei, Huntsman, Scott, Zaitlen, Noah, Zhou, Alicia Y, Ziv, Elad   +8 more
core   +2 more sources

The role of fibroblast growth factors in cell and cancer metabolism

FEBS Letters, EarlyView.
Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley   +1 more source