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Whole Genome Sequence Analysis of Terbinafine Resistant and Susceptible Trichophyton Isolates from Human and Animal Origin.
Mycopathologia
January 2025
Department of Medical Microbiology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Trichophyton indotineae, first identified in India, has increasingly been reported in Asia, the Middle East, Europe, and recently in the USA. The global spread of terbinafine-resistant T. indotineae underscores the urgency of the issue.
View Article and Find Full Text PDFGenomic profiling reveals SMARCA4 mutations are associated with shorter overall and intracranial progression free survival in melanoma brain metastasis patients.
Clin Cancer Res
December 2024
Dana-Farber Cancer Institute, Boston, MA, United States.
Purpose: Melanoma brain metastases (MBMs) are a common, lethal complication of metastatic melanoma. Despite improvements in treatments, subsets of MBM patients experience rapid decline, and few prognostic biomarkers have been identified. An improved understanding of the molecular features specifically associated with MBM overall survival (OS) and intracranial progression free survival (PFS) could facilitate the development of more effective clinical management strategies.
View Article and Find Full Text PDFFunctional evaluation and clinical classification of BRCA2 variants.
Nature
January 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.
View Article and Find Full Text PDFSaturation genome editing-based clinical classification of BRCA2 variants.
Nature
January 2025
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA.
Sequencing-based genetic tests have uncovered a vast array of BRCA2 sequence variants. Owing to limited clinical, familial and epidemiological data, thousands of variants are considered to be variants of uncertain significance (VUS). Here we have utilized CRISPR-Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line to determine the functional effect of VUS.
View Article and Find Full Text PDFThe possible pathogenic mechanisms of microorganisms in infertility: a narrative review.
Arch Microbiol
January 2025
Infectious Diseases Research Center (IDRC), Arak University of Medical Sciences, Arak, Iran.
Infertility can harm a patient in physical, psychological, spiritual, and medical ways. This illness is unusual because it affects the patient's companion and the patient individually. Infertility is a multifactorial disease, and various etiological factors like infection are known to develop this disorder.
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