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A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib.
Clin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, People's Republic of China.
Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the gene, which encodes Type VII collagen. The absence or dysfunction of Type VII collagen can cause the dense lower layer of the basal membrane zone of the skin to separate from the dermis, leading to blister formation and various complications. In different DEB subtypes, the severity of the phenotype is associated, to some extent, with the outcome of Type VII collagen caused by mutations in the gene, which may be reduced in expression, remarkably reduced, or completely absent.
View Article and Find Full Text PDFInvestigating BoLA Class II DRB3*009:02 carrying cattle in Japan.
Vet Anim Sci
March 2025
Veterinary Virology, School of Veterinary Medicine, Rakuno Gakuen University, 582 Midorimachi Bunkyodai, Ebetsu, Hokkaido, 0698501, Japan.
Enzootic bovine leukosis (EBL) is a malignant lymphoma of cattle that is mainly caused by bovine leukemia virus (BLV) infection. In this study, PCR-RFLP was used to investigate the frequency of the DRB3*009:02 allele in several farms with different herd management practices in Japan. A total of 742 Holsteins (384) and Japanese Blacks (230) were used as the sample size for the study, which was larger than the number of cattle in the study area with a confidence level of 95 % and a margin of error of 8.
View Article and Find Full Text PDFComparative transcriptome analysis reveals a serotype-specific immune response in Nile tilapia () infected with .
Front Immunol
January 2025
Faculty of Biosciences and Aquaculture, Nord University, Bodø, Norway.
is a major causative agent of streptococcosis in Nile tilapia () and understanding its etiology is important to ensure the sustainable development of global tilapia farming. Our research group recently observed contrasting disease patterns in animals infected with two different serotypes (Ib and III). To better understand the basis for these divergent responses, we analyzed the brain transcriptome of Nile tilapia following bacterial exposure.
View Article and Find Full Text PDFMolecular Epidemiology of Type F Among Diarrheal Patients and Virulence-Resistance Dynamics - 11 Provinces, China, 2024.
China CDC Wkly
January 2025
Department of Clinical Laboratory, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou City, Zhejiang Province, China.
Introduction: Type F () represents a significant pathogen in human gastrointestinal diseases, primarily through its gene encoding enterotoxin (CPE). This investigation examined the prevalence, antimicrobial resistance patterns, and genetic characteristics of Type F within the Chinese population.
Methods: The study analyzed 2,068 stool samples collected from 11 provincial hospitals in 2024.
Characterization of tumor epigenetic aberrations is integral to understanding the mechanisms of tumorigenesis and provide diagnostic, prognostic, and predictive information of high clinical relevance. Among the different tumor-associated epigenetic signatures, 5 methyl-cytosine (5mC) and 5-hydroxymethylcytosine (5hmC) are the two most well-characterized DNA methylation alterations linked to cancer pathogenesis. 5hmC has a tissue-specific distribution and its abundance is subjected to changes in tumor DNA, making it a promising biomarker.
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