Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFDiagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Development of a bacteria-nanosapper for the active delivery of ZIF-8 particles containing therapeutic genes for cancer immune therapy.
Acta Pharm Sin B
December 2024
School of Pharmacy, Institute of Hepatology and Metabolic Diseases, Department of Hepatology, the Affiliated Hospital of Hangzhou Normal University, Hangzhou Normal University, Hangzhou 311121, China.
Specific tumor-targeted gene delivery remains an unsolved therapeutic issue due to aberrant vascularization in tumor microenvironment (TME). Some bacteria exhibit spontaneous chemotaxis toward the anaerobic and immune-suppressive TME, which makes them ideal natural vehicles for cancer gene therapy. Here, we conjugated ZIF-8 metal-organic frameworks encapsulating eukaryotic murine interleukin 2 () expression plasmid onto the surface of VNP20009, an attenuated strain with well-documented anti-cancer activity, and constructed a TME-targeted delivery system named /ZIF-8@.
View Article and Find Full Text PDFAn intractable conflict environment (ICE) is an extreme context in which deep, unsolvable conflict between groups is central to the actors within it. While non-ICEs are typically assumed in organizational research, ICEs are increasingly common contexts for organizations. Moreover, this context influences peoples' interpretation of potential organizational conflict incidents inside the organization and therefore the likelihood and emotional intensity of organizational conflict events.
View Article and Find Full Text PDFAmide-Directed Highly Enantioselective Hydrogenation of Diverse Acyclic Multisubstituted Alkenes Under Mild Conditions.
Angew Chem Int Ed Engl
January 2025
Center of Basic Molecular Science (CBMS), Department of Chemistry, Tsinghua University, Beijing, 100084, China.
Enantioselective hydrogenation of tetrasubstituted alkenes to form 1,2-contiguous stereocenters is a particularly appealing but highly challenging transformation in asymmetric catalysis. Despite the notable progress achieved in enantioselective hydrogenation over the past decades, enantioselective hydrogenation of all-carbon tetrasubstituted alkenes containing multiple alkyl groups remains an unsolved challenge. Here, we report a rhodium-catalyzed highly diastereo- and enantioselective hydrogenation of diverse acyclic multisubstituted alkenes under mild conditions.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!