Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/humu.24153 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Increased Rate of Unique Mitochondrial DNA Deletion Breakpoints in Young Adults With Early-Life Stress.
Biol Psychiatry Glob Open Sci
March 2025
Initiative on Stress, Trauma, and Resilience, Department of Psychiatry and Human Behavior, Warren Alpert Medical School, Brown University, Providence, Rhode Island.
Background: Mounting evidence suggests that mitochondria respond to psychosocial stress. Recent studies suggest mitochondrial DNA (mtDNA) deletions may be increased in some psychiatric disorders, but no studies have examined early-life stress (ELS) and mtDNA deletions. In this study, we assessed mtDNA deletions in peripheral blood mononuclear cells of medically healthy young adults with and without ELS.
View Article and Find Full Text PDFCryptic to conventional cytogenetics: Philadelphia-like ALL presenting with hypereosinophilia.
BMJ Case Rep
January 2025
Department of Internal Medicine, University of Kentucky, Lexington, Kentucky, USA.
BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as and Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia.
View Article and Find Full Text PDFPort-a-Cath Infection of : First Italian Case Report.
Microorganisms
November 2024
Department of Microbiology & Virology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
is a Non-Tuberculous Mycobacterium (NTM) belonging to the group, often associated with veterinary diseases, such as bovine farcy. However, it can also cause human infections and appears to be involved in Catheter-Associated Infections in immunocompromised patients. Here, we report the first Italian isolation of a strain of from a 16-year-old oncological female patient being treated at Fondazione IRCCS Policlinico San Matteo Pavia (Italy).
View Article and Find Full Text PDFConventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Genes (Basel)
December 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors.
View Article and Find Full Text PDFDeCGR: an interactive toolkit for deciphering complex genomic rearrangements from Hi-C data.
BMC Genomics
November 2024
Department of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China.
Background: Complex genomic rearrangements (CGRs) drive the restructuring of chromatin architecture, resulting in significant interactions among rearranged fragments, visible as anomalous interaction blocks in chromatin contact maps generated by chromosome conformation capture technologies such as Hi-C. These blocks not only offer the orientation and genome coordinates of rearranged fragments but also filter out false positive CGRs, thereby facilitating CGR assembly. Despite this, there is a lack of interactive graphical software tailored for this purpose.
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!