Focal Deletions of a Promoter Tether Activate the IRX3 Oncogene in T-Cell Acute Lymphoblastic Leukemia

Medicine, Hematology, Oncology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
T-cell acute lymphoblastic leukemia   FTO gene   IRX3 oncogene   enhancer hijacking   CTCF binding site   noncoding genome   tumor suppressor mechanism  

Stage-specific Chromosomal Deletions Activate the IRX3 Oncogene in T-cell Acute Lymphoblastic Leukemia In the field of cancer research, understanding regulatory mechanisms of the noncoding genome remains a key focus, especially concerning how oncogenes can be aberrantly activated through non-canonical regulatory pathways. This paper, authored by Su...

Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis Revisited

Medicine, Pediatrics, Hematology, Life Sciences, Immunology, Genetics,
Familial Hemophagocytic Lymphohistiocytosis   Diagnostic Criteria   HLH-2004   Cellular Cytotoxicity Assays   Genetic Diagnosis  

Revisited Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis (FHL) Based on HLH-2004: Updates to Diagnostic Criteria and Development of Multipathway Diagnostic Strategies Introduction Familial hemophagocytic lymphohistiocytosis (FHL) is a severe hyperinflammatory disease characterized by abnormal accumulation of macrophages and l...

Whole-Genome Analysis of Plasma Fibrinogen Reveals Population-Differentiated Genetic Regulators with Putative Liver Roles

Medicine, Hepatobiliary System, Hematology, Cardiovascular System, Life Sciences, Genetics,
plasma fibrinogen   whole-genome analysis   genetic regulation   population differentiation   liver roles   genetic variation   biomarkers  

Whole-Genome Analysis of Plasma Fibrinogen Reveals Population-Differentiated Genetic Regulators with Potential Liver Roles Academic Background Fibrinogen is a crucial coagulation factor and acute-phase reactive protein. Under normal physiological conditions, fibrinogen is abundant in circulation, but during the acute inflammatory response, transcri...

Genetic and Pharmacological Targeting of mTORC1 in Mouse Models of Arteriovenous Malformation Expose Non-Cell Autonomous Signalling in HHT

Medicine, Hematology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
Hereditary Hemorrhagic Telangiectasia   Arteriovenous Malformation   Endothelial Cells   mTORC1   Signaling Pathways   Genetic Targeting   Pharmacological Treatment  

Genetic and Pharmacological Targeting of mTORC1 in Mouse Models of Arteriovenous Malformation Expose Non-Cell Autonomous Signalling in HHT Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder caused by mutations leading to the loss of function in either Activin Receptor-Like Kinase 1 (ACVRL1) or Endoglin (ENG), which act as receptors a...

Somatic RIT1 Delins in Arteriovenous Malformations Hyperactivate RAS-MAPK Signaling Amenable to MEK Inhibition

Medicine, Oncology, Life Sciences, Immunology, Genetics,
arteriovenous malformation   RIT1 gene   RAS-MAPK signaling   MEK inhibitor   vascular anomalies  

Academic Background and Problem Statement Arteriovenous Malformations (AVMs) are benign vascular anomalies prone to pain, bleeding, and progressive growth. The primary cause of AVMs is somatic mutations in the RAS-MAPK signaling pathway. However, not all patients have identifiable causative mutations. To further explore the pathogenesis of AVMs, re...

The Role of lncRNA-Mediated ceRNA Network in Penile Squamous Cell Carcinoma

Medicine, Urology, Oncology, Life Sciences, Immunology, Genetics,
long non-coding RNA   competing endogenous RNA network   penile squamous cell carcinoma   tumor microenvironment   immunosuppression  

The Role of lncRNA-Mediated ceRNA Network in Penile Squamous Cell Carcinoma Academic Background Penile Squamous Cell Carcinoma (PSCC) is a relatively rare but life-threatening malignancy that poses a significant health risk to men, particularly in developing countries. Despite advancements in medical diagnosis and treatment, the overall survival ra...