HLA-DRB1*04:05:21 differs from HLA-DRB1*04:05:01:01 in codon 83 in exon 2.
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Exploring the interplay between enhancer-promoter interactions and transcription.
Curr Opin Genet Dev
January 2025
Department of Biochemistry and Molecular Biophysics, Program for Mathematical Genomics, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address:
Enhancers in metazoan genomes are known to activate their target genes across both short and long genomic distances. Recent advances in chromosome conformation capture assays and single-cell imaging have shed light on the underlying chromatin contacts and dynamics. Yet the relationship between 3D physical enhancer-promoter (E-P) interactions and transcriptional activation remains unresolved.
View Article and Find Full Text PDFThe association of HLA-DRB1 allele group but not HLA-B or ERAP1-rs7063 gene polymorphisms with atopic dermatitis.
Hum Immunol
January 2025
Laboratory of Immunogenetics and Tissue Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland.
Atopic dermatitis (AD) is one of the most common dermatoses. According to current data 2.6 % of the world's population suffer from AD.
View Article and Find Full Text PDFNaturally occurring variation in a cytochrome P450 modifies thiabendazole responses independently of beta-tubulin.
PLoS Pathog
January 2025
Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Widespread anthelmintic resistance has complicated the management of parasitic nematodes. Resistance to the benzimidazole (BZ) drug class is nearly ubiquitous in many species and is associated with mutations in beta-tubulin genes. However, mutations in beta-tubulin alone do not fully explain all BZ resistance.
View Article and Find Full Text PDFThe chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.
Proc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
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