Results 111 to 120 of about 248,138 (311)

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Differential polyadenylation of ribosomal RNA during post-transcriptional processing in Leishmania. [PDF]

, 2005
The protozoan parasite Leishmania belongs to the most ancient eukaryotic lineages and this is reflected in several distinctive biological features, such as eukaryotic polycistronic transcription and RNA trans-splicing.
Laurent, T., Chappuis, F., Llanos-Cuentas, A., Llanos-Cuentas, A, V. YARDLEY, F. CHAPPUIS, Laurent, T, T. LAURENT, Dujardin, J. C., Vandesompele, J, J.-C. DUJARDIN, DE DONCKER, S, S. RIJAL, Decuypere, S., S. DECUYPERE, Yardley, V, De Donckeri, S, Vandesompele, Jo, Rijal, S., J. AREVALO, Vandesompele, J., S. DE DONCKER, J. VANDESOMPELE, Yardley, V., Chappuis, F, Arevalo, J., Arevalo, J, Rijal, S, De Doncker, S., A. LLANOS-CUENTAS, Dujardin, JC, Decuypere, S   +31 more
core   +1 more source

RNA splicing: Out of the loop [PDF]

Current Biology, 1997
Recent functional analysis of catalytic and exon-binding domains from group II autocatalytic introns has revealed haunting similarities with small nuclear RNA sequences in the spliceosome.
openaire   +2 more sources

CIRCexplorer3: A CLEAR Pipeline for Direct Comparison of Circular and Linear RNA Expression

Genomics, Proteomics & Bioinformatics, 2019
Sequences of circular RNAs (circRNAs) produced from back-splicing of exon(s) completely overlap with those from cognate linear RNAs transcribed from the same gene loci with the exception of their back-splicing junction (BSJ) sites. Therefore, examination
Xu-Kai Ma, Meng-Ran Wang, Chu-Xiao Liu, Rui Dong, Gordon G. Carmichael, Ling-Ling Chen, Li Yang   +6 more
doaj   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +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

Metastasis-associated protein 1 rewires prostate cancer transcriptomes via direct RNA interactions governing gene expression and alternative splicing

Journal of International Medical Research
Objective This study investigated whether metastasis-associated protein 1 (MTA1) acts as an RNA-binding protein to directly regulate gene expression and alternative splicing in prostate cancer, thereby exploring its dual transcriptional and post ...
Guanlin Qu, Fuhao Li, Bin Wu, Enlai Li, Shen Xu, Lei Chen   +5 more
doaj   +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

Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations

Nature Communications
Expansion of RNA polymerase III (Pol III) activity in cancer can activate the transcription of typically silent small RNA genes, including snaR-A (small NF90-associated RNA isoform A), a hominid-specific noncoding RNA that promotes cell proliferation ...
Sihang Zhou, Simon Lizarazo, Sandip Chorghade, Leela Mouli, Ruiying Cheng, Rajendra K C, Auinash Kalsotra, Kevin Van Bortle   +7 more
doaj   +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