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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
Front Genet
January 2025
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Objectives: Hemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investigating the mechanisms of her condition and the genetic basis within her family.
View Article and Find Full Text PDFLong-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.
NPJ Parkinsons Dis
January 2025
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, and Parkinson's disease (PD). However, the genotype-phenotype correlation and underlying mechanism are mostly unknown. We screened RFC1-repeat expansions in 1445 patients with parkinsonism.
View Article and Find Full Text PDFRev-RRE activity modulates HIV-1 replication and latency reactivation: Implications for viral persistence and cure strategies.
bioRxiv
January 2025
Department of Microbiology, Immunology, and Cancer Biology, School of Medicine, University of Virginia, Charlottesville, Virginia, USA.
The HIV-1 Rev-RRE regulatory axis plays a crucial role in viral replication by facilitating the nucleo-cytoplasmic export and expression of viral mRNAs with retained introns. In this study, we investigated the impact of variation in Rev-RRE functional activity on HIV-1 replication kinetics and reactivation from latency. Using a novel HIV-1 clone with an interchangeable Rev cassette, we engineered viruses with different Rev functional activities and demonstrated that higher Rev-RRE activity confers greater viral replication capacity while maintaining a constant level of Nef expression.
View Article and Find Full Text PDFRhesus macaques (RMs) are vital models for studying human disease, and are invaluable to pre-clinical pipelines for vaccine discovery and testing. Particularly in this regard, they are often used to study infection and vaccine-associated broadly neutralizing antibody responses. This has resulted in an increasing demand for improved genetic resources for the immunoglobulin (IG) loci, which harbor antibody-encoding genes.
View Article and Find Full Text PDFNovel Quinazoline Derivatives Inhibit Splicing of Fungal Group II Introns.
ACS Chem Biol
January 2025
Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, United States.
We report the discovery of small molecules that target the RNA tertiary structure of self-splicing group II introns and display potent antifungal activity against yeasts, including the major public health threat . High-throughput screening efforts against a yeast group II intron resulted in an inhibitor class which was then synthetically optimized for enhanced inhibitory activity and antifungal efficacy. The most highly refined compounds in this series display strong, gene-specific antifungal activity against .
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