The phenomenology of genomic destabilization is described in Drosophila melanogaster mutants containing radiation-induced conditional dominant lethals in the X chromosome and in autosome 2. Destabilization manifests itself as (1) the loss or decrease of lethality of previously lethal mutations; (2) the loss of expression of visible dominant mutations in an opposite homolog; (3) chromosomal instability resulting in the loss of the X chromosome in germline and somatic cells; (4) the occurrence of novel mutations (secondary mutagenesis); (5) the occurrence of single and mass modifications; (6) disturbances in individual development (formation of morphoses). The key event for the shift of the genome from the stable state into the unstable one is the occurrence of a conditional dominant lethal mutation.
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Cell Mol Life Sci
January 2025
Department of Infection Biology, Wonkwang University School of Medicine, Iksan, 54538, Republic of Korea.
Collagen, a major component of the extracellular matrix, is crucial for the structural integrity of the Caenorhabditis elegans cuticle. While several proteins involved in collagen biosynthesis have been identified, the complete regulatory network remains unclear. This study investigates the role of CALU-1, an ER-resident calcium-binding protein, in cuticle collagen formation and maintenance.
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College of Life Science, Dezhou University, Dezhou 253023, China.
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Medical Oncology Department, Hospital Universitario Miguel Servet, 50012 Zaragoza, Spain.
: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy with a five-year survival rate of approximately 13% for advanced stages. While the majority of PDAC cases are sporadic, a significant subset is attributable to hereditary and familial predispositions, accounting for approximately 25% of cases. This article synthesizes recent advancements in the understanding, detection, and management of hereditary pancreatic cancer (PC).
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Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Division of Hematology/Oncology, University of Virginia, Charlottesville, VA 22903, USA.
Androgen-indifferent prostate cancer (AIPC) is increasingly common and particularly lethal. Data describing these tumors are sparse, and AIPC remains a poorly understood malignancy. Utilizing the Oncology Research Information Exchange Network (ORIEN) database, we enriched for tumors with features of AIPC using previously described characteristics.
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