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encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.
View Article and Find Full Text PDFGenomic and molecular landscape of gallbladder cancer elucidating pathogenic mechanisms novel therapeutic targets and clinical implications.
Mutat Res
December 2024
School of Health Sciences and Technology, UPES, Dehradun, Uttarakhand 248007, India. Electronic address:
Gallbladder cancer (GBC) is an aggressive malignancy with a poor prognosis, often diagnosed at advanced stages due to subtle early symptoms. Recent studies have provided a comprehensive view of GBC's genetic and mutational landscape, uncovering crucial pathways involved in its pathogenesis. Environmental exposures, particularly to heavy metals, have been linked to elevated GBC risk.
View Article and Find Full Text PDFSTUDY OF CHROMOSOME STABILITY OF HUMAN SOMATIC CELLS IN THE DEVELOPMENT OF THE SECONDARY RADIATION-INDUCED BYSTANDER EFFECT.
Probl Radiac Med Radiobiol
December 2024
State Institution «National Research Center of Radiation Medicine, Hematology and Oncology of the National Academy of Medical Sciences of Ukraine», 53 Yuriia Illienka Str., Kyiv, 04050, Ukraine.
Objective: To establish the level of chromosomal instability in human peripheral blood lymphocytes during thedevelopment of secondary radiation-induced bystander effect.
Materials And Methods: Human peripheral blood lymphocytes; culture of human non-small-cell lung cancer cell lineA549 (irradiated in vitro by 137Cs in a dose of 0.50 Gy/unirradiated).
Immunodeficiency-related high-grade B-cell lymphoma with 11q aberration: Further evidence for a lymphoma entity from a patient with simultaneous papillary renal cell carcinoma following pediatric kidney transplant.
Pathol Res Pract
December 2024
Section of Pathology, Department of Medical Biotechnology, University of Siena, Siena, Italy. Electronic address:
Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood immunosuppression and a kidney transplant.
View Article and Find Full Text PDFCARF regulates the alternative splicing and piwi/piRNA complexes during mouse spermatogenesis through PABPC1.
Acta Biochim Biophys Sin (Shanghai)
December 2024
ADP-ribosylation factor collaborator (CARF), which is also known as CDKN2AIP, was first recognized as an ADP-ribosylation factor-interacting protein that participates in the activation of the ARF-p53-p21 (WAF1) signaling pathway under different conditions, such as oxidative and oncogenic stresses. The activation of this pathway often leads to cell growth arrest and apoptosis as well as senescence. Previous studies revealed that CARF, an RNA-binding protein, is critical for maintaining stem cell pluripotency and somatic differentiation.
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