Results 131 to 140 of about 905,445 (296)

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

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +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

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Structure Formation in Butterfly Scales: Interplay of Genetic Control, Mechanical Instabilities, and Dynamic Material Properties

Advanced Functional Materials, EarlyView.
Butterfly wing scales are intricate cuticular functional nanosctructures. This perspective suggests that spatially varying material properties, cytoskeletal constraints, and growth‐driven mechanical instabilities shape the resulting nanoscale architectures created from single cells.
Anupama Prakash, Victoria Lloyd, Yi Yang, Anna‐Lee Jessop, Anthony McDougal, Primož Pirih, Guillaume Duclos, Andrew Parnell, Mathias Kolle, Nicola J. Nadeau, Bodo D. Wilts   +10 more
wiley   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, EarlyView.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

Whole‐genome sequencing and the physician [PDF]

Clinical Genetics, 2012
Thorogood, A., Knoppers, B. M., Dondorp, W. J., de Wert, G. M. W. R.   +3 more
openaire   +3 more sources

ETV2 Mediated Differentiation of Human Pluripotent Stem Cells Results in Functional Endothelial Cells for Engineering Advanced Vascularized Microphysiological Models

Advanced Healthcare Materials, EarlyView.
A robust method to generate functional human iPSC‐derived endothelial cells using inducible ETV2 expression. These cells self‐organize into stable, lumenized microvascular networks within microfluidic chips, surpassing conventional differentiation methods.
Shun Zhang, Zhengpeng Wan, Lei Wang, Caihong Wu, Junkai Zhang, Sarah Spitz, Xun Wang, Marie A. Floryan, Mark F. Coughlin, Francesca M. Pramotton, Liling Xu, Ron Weiss, Roger D. Kamm   +12 more
wiley   +1 more source

Whole Genome Sequencing [PDF]

, 2019
openaire   +3 more sources