Results 121 to 130 of about 229,759 (254)

The Dynamic Landscape of 3′‐UTR Alternative Polyadenylation Across Mouse Fetal Development and Anatomy

Advanced Science, EarlyView.
This work maps 3′‐UTR APA across mouse fetal development and tissues, identifying conserved sequence determinants that influence pAS choice. In fetal brain tissues, complex APA dynamics during development are potentially regulated by RBPs like Rbm38, which restrict distal pAS usage.
Qin Wang, Xin Chen, Xiao‐Ou Zhang
wiley   +1 more source

Molecular profiling of head and neck squamous cell carcinomas in North-eastern Italy identifies possible tumour cell vulnerabilities

Translational Oncology
Background and Purpose: Head and Neck Squamous Cell Cancer (HNSCC) originates from the oral cavity, oropharynx, hypopharynx and larynx, and it ranks sixth among global cancers.
Monica Schiappacassi, Riccardo Spizzo, Jerry Polesel, Lorena Musco, Roberto Doliana, Luca Pellizzari, Valentina Lupato, Giuseppe Fanetti, Emanuela Vaccher, Diego Serraino, Luigi Barzan, Sandro Sulfaro, Vittorio Giacomarra, Giovanni Franchin, Gustavo Baldassarre   +14 more
doaj  

A Smart Single‐Loop‐Mediated Isothermal Amplification Facilitates Flexible SNP Probe Design for On‐Site Rapid Differentiation of SARS‐CoV‐2 Omicron Variants

Advanced Science, EarlyView.
The ssLAMP method amplifies the nucleic acid of pathogen and identifies SNP mutations. By combining the portable detection device with smartphone‐based analysis software, enables rapid, on‐site SNP detection and genotyping of SARS‐Cov‐2 Omicron variants, providing a cost‐effective and field‐deployable solution for precise pathogen identification in ...
Qijie Lin, Hongchao Gou, Xiaoyun Qu, Kaiyuan Jia, Yuhui Deng, Dan Li, Qianyi Cai, Yucen Liang, Xiaozhen Xu, Yanbin Li, Jianhan Lin, Letian Li, Yuhang Jiang, Shouwen Du, Lingcong Deng, Bailing Yan, Ruidong Liu, Chang Li, Jianmin Zhang, Ming Liao   +19 more
wiley   +1 more source

Detection of single nucleotide polymorphisms in virus genomes assembled from high-throughput sequencing data: large-scale performance testing of sequence analysis strategies

, 2023
Johan Rollin, Rachelle Bester, Yves Brostaux, Kadriye Çağlayan, Kris De Jonghe, Aleš Eichmeier, Yoika Foucart, Annelies Haegeman, Igor Koloniuk, Petr Komínek, Hans J. Maree, Serkan Önder, Susana Posada-Céspedes, Vahid Roumi, Dana Šafářová, Olivier Schumpp, Çiğdem Ulubaş Serçe, Merike Sõmera, Lucie Tamisier, Eeva J. Vainio, R.A.A. van der Vlugt, Sébastien Massart   +21 more
openalex   +1 more source

A Systematic Evaluation of High-Throughput Sequencing Approaches to Identify Low-Frequency Single Nucleotide Variants in Viral Populations [PDF]

, 2020
David J. King, Graham Freimanis, Lidia Lasecka‐Dykes, Amin S. Asfor, Paolo Ribeca, Ryan Waters, Donald P. King, Emma Laing   +7 more
openalex   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution [PDF]

, 2018
Benjamin J. Callahan, Joan Wong, Cheryl Heiner, Steve D. Oh, Casey M. Theriot, Ajay Gulati, Sarah McGill, Michael Dougherty   +7 more
openalex   +1 more source

Evaluation of a High-Throughput Dense Single-Nucleotide Polymorphism PCR Multiplex Next Generation Sequencing Application for Human Remains Identification

, 2023
Sarah Radecke, Joana Antunes, June Snedecor, Clare Zlatkov, Laurence Devesse, Gothami Padmabandu, Kathryn M. Stephens   +6 more
openalex   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source