Results 171 to 180 of about 4,960,505 (304)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Simultaneous isolation and parallel analysis of genomic DNA and total RNA: A comprehensive approach. [PDF]

Mol Ther Methods Clin Dev
Rouse J, Wei H, Annas A, Scott D, Bhagchandani D, Beard C.   +5 more
europepmc   +1 more source

Human primary macrophages derived in vitro from circulating monocytes comprise adherent and non-adherent subsets with differential expression of Siglec-1 and CD4 and permissiveness to HIV-1 infection [PDF]

, 2017
Abdel-Mohsen, Akridge, Barr, Bishop, Cai, Cai, Campbell, Chaipan, Colomer-Lluch, Crowe, Daugherty, Ellery, Fitzpatrick, Gartner, Gaudin, Germinario, Giese, Ginhoux, Goldstone, Gonzalez-Scarano, Gosselin, Hammonds, Hancock, Hashimoto, Hassan, Hatch, Hoeffel, Honeycutt, Igarashi, Izquierdo-Useros, Jambo, Jaworowski, Jenkins, Jobe, Jobe, Kajaste-Rudnitski, Kedzierska, Kim, Koppensteiner, Koppensteiner, Krisko, Kuroda, Laguette, Lahouassa, Law, Li, Liu, Mlcochova, Montaner, Orenstein, Pertel, Phipson, Pino, Puryear, Ritchie, Rom, Rosa, Santa-Marta, Schmidt, Schnell, Sieweke, Sonza, St Gelais, Stabell, Swaminathan, Swingler, Tan, Turrini, Usami, Van Damme, Wang, Yan, Zou   +72 more
core   +2 more sources

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Precise prediction of hotspot residues in protein-RNA complexes using graph attention networks and pretrained protein language models. [PDF]

Bioinformatics
Shen S, Chen J, Huang Z, Zhang Y, Fan Z, Kong Y, Deng L.   +6 more
europepmc   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

IC2Bert: masked gene expression pretraining and supervised fine tuning for robust immune checkpoint blockade (ICB) response prediction. [PDF]

Sci Rep
Park S, Kim S, Jiang P.
europepmc   +1 more source

Small RNA-based feedforward loop with AND-gate logic regulates extrachromosomal DNA transfer in Salmonella

Proceedings of the National Academy of Sciences of the United States of America, 2015
Kai Papenfort, Elena Espinosa, J. Casadesús, J. Vogel   +3 more
semanticscholar   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Therapeutic and diagnostic potential of extracellular vesicle (EV)-mediated intercellular transfer of mitochondria and mitochondrial components. [PDF]

J Cereb Blood Flow Metab
Wang M, Wang W, Chopp M, Zhang ZG, Zhang Y.   +4 more
europepmc   +1 more source