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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
Eur J Hum Genet
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Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
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Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Cancer persists as a significant global health challenge, claiming millions of lives annually despite remarkable strides in therapeutic innovation. Challenges such as drug resistance, toxicity, and suboptimal efficacy underscore the need for novel treatment paradigms. In this context, the repurposing of antibiotics as anti-cancer agents has emerged as an attractive prospect for investigation.
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This review systematically examines the influence of oxidative stress on the reproductive function of male livestock, with a particular focus on the modulation of autophagy. Spermatogenesis, a highly precise biological process, is vulnerable to a range of internal and external factors, among which oxidative stress notably disrupts autophagic processes within the testes. This disruption results in diminished sperm quality, impaired testosterone synthesis, and compromised integrity of the blood-testis barrier.
View Article and Find Full Text PDFUnraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.
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Special histologic subtypes of breast cancer (BC) exhibit unique phenotypes and molecular profiles with diagnostic and therapeutic implications, often differing in behavior and clinical trajectory from common BC forms. Novel methodologies, such as artificial intelligence may improve classification. Genetic predisposition plays roles in a subset of cases.
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Radiobiology Unit, Research and Development Department, CNAO National Center for Oncological Hadrontherapy, 27100 Pavia, Italy.
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