Nucleosomes modulate DNA damage and repair, resulting in periodic mutation rates in nucleosomal DNA. Previous research has characterized these patterns in many sequenced tumor genomes; however, computational tools to identify and quantify these periodicities have not been developed for the broader scientific community. Here, we describe mutperiod, a Python and R based toolset that quantifies nucleosome mutational periodicities and compares them across different genetic and cellular backgrounds. We use mutperiod to demonstrate that DNA mismatch repair contributes to the nucleosome mutational periodicity observed in esophageal adenocarcinomas, and that the strength of this mutational periodicity varies in different chromatin states.
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http://dx.doi.org/10.1016/j.csbj.2021.07.025 | DOI Listing |
J Antimicrob Chemother
January 2025
Institut Pasteur de Dakar, Immunophysiopathology and Infectious Diseases Department, G4-Malaria Experimental Genetic Approaches and Vaccines Unit, Dakar, Senegal.
Background: Since 2006, artemisinin-based combination therapies (ACTs) have been introduced in Senegal in response to chloroquine resistance (CQ-R) and have shown high efficacy against Plasmodium falciparum. However, the detection of the PfKelch13R515K mutation in Kaolack, which confers artemisinin resistance in vitro, highlights the urgency of strengthening antimalarial drug surveillance to achieve malaria elimination by 2030.
Objective: To assess the proportion of P.
Proteins
January 2025
Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, USA.
Starch accumulation in plants provides carbon for nighttime use, for regrowth after periods of dormancy, and for times of stress. Both ɑ- and β-amylases (AMYs and BAMs, respectively) catalyze starch hydrolysis, but their functional roles are unclear. Moreover, the presence of catalytically inactive amylases that show starch excess phenotypes when deleted presents questions on how starch degradation is regulated.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Dilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, Ethiopia.
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This case report details an 18-year-old primigravid lady in her third trimester who presented with severe polyhydramnios and fetal bowel dilation observed via ultrasound.
View Article and Find Full Text PDFJ Am Soc Cytopathol
December 2024
Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts. Electronic address:
Introduction: Cytologic evaluation of pericardial fluid is essential for diagnosing malignant pericardial effusions secondary to metastatic disease and for guiding appropriate clinical management; however, large cohort and up-to-date studies on malignancy rates and distribution of primary tumor sites is lacking.
Materials And Methods: A retrospective analysis of pericardial fluid specimens from 2 large academic medical centers over a 10-year period was conducted. Clinical and specimen characteristics were correlated with cytologic diagnoses, and compared with surgical pathology pericardial specimens when available.
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