Results 211 to 220 of about 2,058,071 (297)

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

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Substitution Spectrum and Selection at G-quadruplexes in Great Ape Telomere-to-Telomere Genomes. [PDF]

Genome Biol Evol
Zhang X, Mohanty SK, Chiaromonte F, Makova KD.   +3 more
europepmc   +1 more source

Effects of Causal Beliefs About Gout on Public Views About Gout Management: A Randomized Experimental Study

Arthritis Care &Research, EarlyView.
Objective Despite well‐described biologic causes, the public views unhealthy lifestyle choices as the primary cause of gout. This study investigated how causal beliefs about gout influence the public's views about its management. Methods In a randomized study, 201 members of the public viewed one of two 2‐minute videos about gout.
Rachel Murdoch, Borislav Mihov, Anne Horne, Keith J. Petrie, Gregory D. Gamble, Lachlan Fleck, Nicola Dalbeth   +6 more
wiley   +1 more source

P192: CRISPR-mediated base editing of the Irish infantile Tay-Sachs mutation

Genetics in Medicine Open
Madison Hernandez, Cynthia Tifft
doaj   +1 more source

Protocol to identify SINE-VNTR-Alu regulators using genome-wide screening in human K562 cells. [PDF]

STAR Protoc
Zhou Z, Zhu S, Pan D, Lee HY, Liu N.
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical applications, challenges, and future directions

Arthritis Care &Research, Accepted Article.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Chromosome-level genome assembly of the common tenrec, Tenrec ecaudatus (Schreber, 1778), a new model for early placental mammal evolution. [PDF]

BMC Genomics
Hernández-Roco D, Leushkin E, Galeas J, Grabek KR, Lopez C, Smith GR, Stadtmauer DJ, Wagner GP, van Breukelen F, Hiller M, Goodman L, Arnold P.   +11 more
europepmc   +1 more source

Poly(lactic‐co‐glycolic acid) Nanoparticles for IL‐12 Self‐Amplifying RNA Delivery in Glioblastoma Models

Advanced Functional Materials, EarlyView.
xxxx. ABSTRACT Glioblastoma (GBM) remains one of the most lethal brain cancers, with median survival rarely exceeding 15 months after diagnosis. Interleukin‐12 (IL‐12) is a potent immunostimulatory cytokine capable of reshaping the tumor microenvironment (TME), yet its clinical translation is hindered by systemic toxicity and short half‐life. RNA‐based
Fatima Hameedat, Johan Sebastian Lopez‐Parra, Willem M. H. Hoogaars, Emma Dijkstra, Cynthia Huang, Irafasha C. Casmil, Anna K. Blakney, Peter Olinga, Barbara Rothen‐Rutishauser, Hélder A. Santos, Alke Petri‐Fink, Flávia Sousa   +11 more
wiley   +1 more source

A recipe for chaos: Extrachromosomal DNA and the hallmarks of cancer. [PDF]

Cell
Wong IT, Bailey C, Wu S, Henssen AG, Cravatt BF, Chen ZJ, Bafna V, Jamal-Hanjani M, Swanton C, Chang HY, Mischel PS.   +10 more
europepmc   +1 more source