Results 151 to 160 of about 889,978 (256)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Noncoding RNA Transcripts Based Molecular Phenotyping of MASLD and MASH Patients. [PDF]

Liver Int Commun
Delgadillo FM, Perez K, Yang B, Dhandayuthapani S, Yallapu MM, Chauhan SC, Ramos EI, Gadad SS.   +7 more
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Noncoding RNA TY1 reverses fibrosis in systemic sclerosis by attenuating the cGAS/STING pathway. [PDF]

JCI Insight
Jones XM, Soussi S, Ciullo A, Tsi K, Liu W, Li L, Fournier M, Mesquita T, Marchevsky AM, Bottini N, Boin F, Ibrahim AG, Marbán E.   +12 more
europepmc   +1 more source

Corrigendum to “Knockdown of long non-coding RNA SLC8A1-AS1 attenuates cell invasion and migration in glioma via suppression of Wnt/β-catenin signaling pathways” [Brain Res. Bull. 176 (2021) 112–120]

Brain Research Bulletin, 2023
Ling He, Hui Yang, Xiao-Long Zhu, Yan Zhang, Kun Lv   +4 more
doaj   +1 more source

Hsp90 Inhibition on the Western Blot: N‐Terminal Versus C‐Terminal Inhibitors in Breast Cancer

Medicinal Research Reviews, EarlyView.
ABSTRACT Heat shock protein 90 (Hsp90) is an established and clinically validated anticancer target. By regulating the folding and maturation of diverse client proteins, it is indirectly involved in carcinogenesis. Key breast cancer oncogenic drivers, including estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, are ...
Jaka Dernovšek, Jernej Cingl, Urša Pečar Fonović, Tihomir Tomašič   +3 more
wiley   +1 more source

Piezo1 Mechanotransduction in Skeletal Muscle: Convergence with Noncoding RNA Regulation in Myogenesis, Regeneration, and Sarcopenia. [PDF]

Int J Mol Sci
Ngo THP, Oh J, Kim HJ, Lee W.
europepmc   +1 more source

The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors

Medicinal Research Reviews, EarlyView.
ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti, Camilla Tavani, Elena Somenza, Nicolas Tassone, Antonio d'Amati, Marta Turati, Roberto Ronca   +6 more
wiley   +1 more source

Retraction: The Long Noncoding RNA HOTAIR Promotes Colorectal Cancer Progression by Sponging miR-197. [PDF]

Oncol Res
Oncology Research Editorial Office.
europepmc   +1 more source

Reading the SINEs - functionality in noncoding RNA 'cheap genes'. [PDF]

RNA Biol
Zahavi EE, Fainzilber M.
europepmc   +1 more source