Results 101 to 110 of about 59,267 (253)

The role of RNA helicases in aging and lifespan regulation

Translational Medicine of Aging, 2017
RNA helicases are members of a large family of enzymes that function in unwinding RNA duplexes and modulating interactions between RNAs and proteins. RNA helicases participate in numerous cellular processes, including transcription, translation, mRNA ...
Sangsoon Park, Hae-Eun H. Park, Heehwa G. Son, Seung-Jae V. Lee   +3 more
doaj   +1 more source

A novel class of microRNA-recognition elements that function only within open reading frames. [PDF]

, 2018
MicroRNAs (miRNAs) are well known to target 3' untranslated regions (3' UTRs) in mRNAs, thereby silencing gene expression at the post-transcriptional level.
A Aizer, A Helwak, A Jakymiw, A Lal, AE Pasquinelli, AJ Giraldez, Alexander Dobin, AM Duursma, AR Buskirk, AR Quinlan, B Langmead, Bing Zhou, CJ Decker, CJ Shoemaker, CJ Woolstenhulme, CP Petersen, Dehe Wang, DP Bartel, DT Humphreys, E Huntzinger, EL Nostrand Van, GB Loeb, Guangqiao Liu, H Guo, HA Meijer, HO Iwakawa, I Behm-Ansmant, I Elcheva, J Hausser, J Liu, J Liu, JH Kim, Jie Zhou, JJ Forman, JP Broughton, K Seggerson, KA O’Donnell, Kai Zhang, L Wu, Ligang Wu, M Hafner, M Kouwenhove van, M Rehmsmeier, MD Robinson, MK Doma, ML Donnelly, N Rajewsky, NT Schirle, PA Maroney, Qian Zhao, R Ishimura, R Ishimura, R Parker, Ran Cao, RS Pillai, S Bagga, S Djuranovic, S Grosswendt, S Gu, S Jonas, S Nottrott, S Takagi, SN Bhattacharyya, SW Chi, SW Eichhorn, Timothy Nilsen, TT Tat, V Presnyak, W Filipowicz, Wen Ruan, X Adiconis, Xiang-Dong Fu, Xiaorong Zhang, Y Ishigaki, Y Liao, Y Tay, Y Wang, Y Xue, Y Zhao, Ya Zhao, Yan Qin, Yu Zhou, Yuanchao Xue, Z Cai, Zhiqiang Cai, Zonggui Chen   +85 more
core   +2 more sources

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes [PDF]

, 2018
The Endoplasmatic Reticulum Aminopeptidases ERAP1 and ERAP2 are implicated in a variety of immune and non-immune functions. Most studies however have focused on their role in shaping the HLA class I peptidome by trimming peptides to the optimal size ...
Cauli, A, Fiorillo, Mt, Mathieu, A, Paladini, F, Piga, M, Sorrentino, R, Tedeschi, V, Vitulano, C   +7 more
core   +2 more sources

Circular RNAs trigger nonsense-mediated mRNA decay

Molecular Cell
Circular RNAs (circRNAs) are covalently closed single-stranded RNAs produced predominantly through a back-splicing process. They play regulatory roles in various biological and physiological processes; however, the molecular mechanisms by which circRNAs operate remain unclear.
Sung Ho Boo, Min-Kyung Shin, Hyun Jung Hwang, Hyeonseo Hwang, Sunwoo Chang, TaeSoo Kim, Daehyun Baek, Yoon Ki Kim   +7 more
openaire   +2 more sources

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Loss of nonsense mediated decay suppresses mutations in Saccharomyces cerevisiae TRA1

BMC Genetics, 2012
Background Tra1 is an essential protein in Saccharomyces cerevisiae. It was first identified in the SAGA and NuA4 complexes, both with functions in multiple aspects of gene regulation and DNA repair, and recently found in the ASTRA complex.
Kvas Stephanie, Gloor Gregory B, Brandl Christopher J   +2 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Expression of a novel versican variant in dorsal root ganglia from spared nerve injury rats [PDF]

, 2019
The size and modular structure of versican and its gene suggest the existence of multiple splice variants. We have identified, cloned, and sequenced a previously unknown exon located within the noncoding gene sequence downstream of exon 8.
Alvarez, Pedro, Bender, Olaf, Bogen, Oliver, Hucho, Ferdinand, Kern, Marie, Levine, Jon D., Tomiuk, Stefan   +6 more
core   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source