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http://dx.doi.org/10.1016/j.jacep.2025.06.026 | DOI Listing |
JACC Clin Electrophysiol
July 2025
Cardiovascular Pathology Unit, Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Padua, Italy. Electronic address:
JACC Case Rep
August 2025
Department of Cardiac Sciences, University of Calgary, Calgary, Alberta, Canada; Broderick Cardiomyopathy Program, University of Calgary, Calgary, Alberta, Canada. Electronic address:
Background: Desmoplakin (DSP) cardiomyopathy is a genetic cardiomyopathy which causes myocarditis, heart failure, and sudden death.
Case Summary: A 42-year-old female presented with palmoplantar keratoderma, recurrent magnetic resonance imaging-confirmed myocarditis, and intense inflammation on cardiac positron emission tomography. Genetic testing confirmed DSP cardiomyopathy with a novel heterozygous DSP c.
Hum Genet
July 2025
Eurac Research, Institute for Biomedicine, Via Volta 21, Bolzano, 39100, Italy.
Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Mendelian diseases share genetic architecture with common complex traits, we assessed whether common variants in any desmosomal gene were associated with cardiac conduction traits in the general population.
View Article and Find Full Text PDFDiseases
July 2025
Hematology, St. Eugenio Hospital, ASL Roma2, 00144 Rome, Italy.
Menin inhibitors are a class of targeted agents that exemplify how a deeper understanding of leukemia pathogenesis can unify seemingly distinct genetic acute leukemia subgroups under a common therapeutic strategy. In particular, acute leukemia with mutations m) and rearrangements (r) represent the primary targets of this emerging drug class. Acute myeloid leukemia (AML) with m-which accounts for approximately 30% of AML cases and AML or acute lymphoblastic leukemia (ALL) with r-and is present in 5-10% of cases, shares a common pathogenetic mechanism: the aberrant activation of the axis.
View Article and Find Full Text PDFNat Genet
July 2025
Division of Molecular Oncology and Immunology, Oncode Institute, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Synthetic lethal interactions (SLIs) based on genomic alterations in cancer have been therapeutically explored. We investigated the SLI space as a function of differential RNA expression in cancer and normal tissue. Computational analyses of functional genomic and gene expression resources uncovered a cancer-specific SLI between the paralogs cytidine diphosphate diacylglycerol synthase 1 (CDS1) and CDS2.
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