Results 171 to 180 of about 515,927 (320)

Identification and functional characterization of EFNA3 as a dual diagnostic biomarker and immune therapeutic target in rectal cancer

Advanced Chinese Medicine, EarlyView.
Abstract Background The Eph/ephrin signaling system has emerged as an important regulator of oncogenic processes, yet its specific involvement in rectal adenocarcinoma (READ) pathogenesis requires further elucidation. This study employed an integrative analytical approach combining computational biology with experimental validation to characterize Eph ...
Tianqi Liu, Jiuyuan Fang, Bohan Liu, Hangqi Liu, Yidan Wang, Yipei Jing, Hui Zhang, Huanwen Wu   +7 more
wiley   +1 more source

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

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

Signal peptides restrict genome evolution and A-to-I RNA editing. [PDF]

NAR Genom Bioinform
Duan Y, Chen S, Cai W, Song W, Li H.
europepmc   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

Advanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez, Nicolás Alcaraz, Karla Torres‐Arciga, José Antonio Ocampo‐Cervantes, Alejandra Cervera, Clementina Castro‐Hernández, Cynthia Gabriela Sámano‐Salazar, Ernesto Soto‐Reyes, Rodrigo González‐Barrios   +8 more
wiley   +1 more source

Experimental evidence for the functional importance and adaptive advantage of A-to-I RNA editing in fungi. [PDF]

Proc Natl Acad Sci U S A, 2023
Xin K, Zhang Y, Fan L, Qi Z, Feng C, Wang Q, Jiang C, Xu JR, Liu H.   +8 more
europepmc   +1 more source

Cis Regulatory Effects on A-to-I RNA Editing in Related Drosophila Species [PDF]

, 2015
Anne L. Sapiro, Patricia Deng, Rui Zhang, Jin Billy Li   +3 more
openalex   +1 more source

The dsRBP and inactive editor ADR-1 utilizes dsRNA binding to regulate A-to-I RNA editing across the C. elegans transcriptome.

Cell Reports, 2014
Michael C. Washburn, Boyko Kakaradov, B. Sundararaman, Emily C. Wheeler, Shawn Hoon, Gene W. Yeo, H. Hundley   +6 more
semanticscholar   +1 more source

Cryo-EM SPA for structural understanding of A-to-I RNA editing: human adenosine deaminase acting on RNA 2 (ADAR2) complexed with dsRNA

Acta Crystallographica Section A: Foundations and Advances, 2022
M. Matthews, A. Thuy-Boun, P. Beal, Andrew Fisher, M. Wolf   +4 more
semanticscholar   +1 more source