Results 231 to 240 of about 73,616 (310)

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Discriminating single-amino acid differences and post-translational modifications in negatively charged peptides with α-hemolysin nanopores. [PDF]

J Nanobiotechnology
Kang L, Wang L, Fan X, Xu L, Yang H, Wu C, Zhu T, Zhao X, Zhang L, Xue J, Yan S.   +10 more
europepmc   +1 more source

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

An integrated nanopore-microfluidic platform for low-voltage electroporation of delivering self-amplifying RNA into dendritic cells. [PDF]

Microsyst Nanoeng
Zhang B, Cai Y, Deng C, Huang X, Yao C, Li X, Gao L, Wu Y, Chen J, Jiang J, Shang L, Xie X, Wang J, Chen HJ, Wu Y, Liu J.   +15 more
europepmc   +1 more source

Inferring Inter‐Well Fracture Interactions in Unconventional Reservoirs Using Fiber‐Optic Sensing and Coupled Multiphysics Modelling

International Journal for Numerical and Analytical Methods in Geomechanics, EarlyView.
ABSTRACT Integrating distributed temperature sensing (DTS) and distributed acoustic sensing (DAS) data with numerical simulations to analyze inter‐well interference and production responses remains challenging. This study employs a coupled thermal–hydraulic–mechanical simulation framework to model heat transfer, fluid flow, and geomechanical responses ...
Chuanyao Zhong, Jiahui Chen, Juliana Y. Leung, Mirko van der Baan   +3 more
wiley   +1 more source

Nanopore metagenomic sequencing links clinically relevant resistance determinants to pathogens. [PDF]

Microb Genom
Ürel H, Sauerborn E, Biggel M, Gebhardt F, Foster-Nyarko E, Brugger SD, White RT, Heidelbach S, Albertsen M, Muchaamba F, Reska T, Stevens MJA, Stephan R, Fetherston R, Urban L.   +14 more
europepmc   +1 more source

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

Prenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou, Leila Sallie, Morgan Jean Bell‐Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris   +7 more
wiley   +1 more source

Nanopore-Based Profiling of PEGylation in Nucleic Acid Therapeutics. [PDF]

J Am Chem Soc
Patiño Guillén G, Schmidt TT, Baumberg JJ, Szostak JW, Keyser UF, Bošković F.   +5 more
europepmc   +1 more source

Biosurfactant production by Pseudomonas aeruginosa isolated from mining waste: From genomic analysis to development of a polymeric composite for removal of hexavalent chromium

Polymer International, EarlyView.
Biosurfactant was produced by Pseudomonas aeruginosa using andiroba waste from Amazonia. A biosurfactant–alginate composite (Alg/BioS) was successfully synthesized via ionotropic gelation, and achieved up to 70% Cr6+ removal from water. Abstract Environmental contamination by heavy metals represents a significant challenge due to their persistence in ...
Paulo Diniz Austriaco, Emilly Cruz da Silva, Glenda Sores Gomes, Joane Almeida Alves, Amanda Vidal, Leandro Argolo, Rafaela Ribeiro, Luciana Souza, José Augusto Pires Bitencourt, Leonardo Brasil Felipe, Leonie Asfora Sarubbo, Sidnei Cerqueira dos Santos   +11 more
wiley   +1 more source