Results 131 to 140 of about 3,932,181 (346)

CCAR-1 works together with the U2AF large subunit UAF-1 to regulate alternative splicing

RNA Biology
The Cell Division Cycle and Apoptosis Regulator (CCAR) protein family members have recently emerged as regulators of alternative splicing and transcription, as well as having other key physiological functions.
Doreen I. Lugano, Lindsey N. Barrett, Dale Chaput, Margaret A. Park, Sandy D. Westerheide   +4 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Understanding the functionality of transcript diversity [PDF]

, 2007
Recent years have seen a huge increase in the amount of genomic DNA being sequenced from a wide variety of organisms, giving us an unprecedented insight into the molecular diversity seen in nature.
Harrington, Eoghan
core   +1 more source

Rapid and Dynamic Alternative Splicing Impacts the Arabidopsis Cold Response Transcriptome[CC-BY]

The Plant Cell, 2018
Alternative splicing is a major contributor to reprogramming of the transcriptome in response to cold. Plants have adapted to tolerate and survive constantly changing environmental conditions by reprogramming gene expression The dynamics of the ...
C. Calixto, Wenbin Guo, A. James, Nikoleta A Tzioutziou, J. Entizne, Paige E Panter, Heather Knight, H. G. Nimmo, Runxuan Zhang, John W. S. Brown   +9 more
semanticscholar   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +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

Analysis of Cis-acting Regulatory Motifs Involved in Alternative Splicing

, 2009
Alternative splicing is an important posttranscriptional process in eukaryotes. It dramatically expands the proteome and contributes essentially to the regulation of gene expression.
Zhao, Sihui
core  

Precise temporal regulation of alternative splicing during neural development

bioRxiv, 2018
Alternative splicing (AS) is one crucial step of gene expression that must be tightly regulated during neurodevelopment. However, the precise timing of developmental splicing switches and the underlying regulatory mechanisms are poorly understood.
Sebastien M. Weyn-Vanhentenryck, Huijuan Feng, Dmytro Ustianenko, Rachel Duffié, QingHong Yan, Martin Jacko, José C. Martínez, Marianne Goodwin, Xuegong Zhang, U. Hengst, S. Lomvardas, M. Swanson, Chaolin Zhang   +12 more
semanticscholar   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

N6-methyladenosine demethylase FTO targets pre-mRNAs and regulates alternative splicing and 3′-end processing

Nucleic Acids Research, 2017
N6-methyladenosine (m6A) is the most abundant base modification found in messenger RNAs (mRNAs). The discovery of FTO as the first m6A mRNA demethylase established the concept of reversible RNA modification. Here, we present a comprehensive transcriptome-
Marek Bartošovič, Helena Covelo Molares, Pavlína Gregorová, Dominika Hroššová, Grzegorz Kudla, Š. Vaňáčová   +5 more
semanticscholar   +1 more source