Results 91 to 100 of about 2,310,452 (384)
PTEN Hamartoma Tumor Syndrome and Immune Dysregulation
Translational Oncology, 2019 Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer.
Marc Eissing +8 more
doaj +1 more source
Arsenic-Induced Carcinogenesis and Immune Dysregulation [PDF]
International Journal of Environmental Research and Public Health, 2019 Arsenic, a metal ubiquitously distributed in the environment, remains an important global health threat. Drinking arsenic-contaminated water is the major route of human exposure. Exposure to arsenic contributes to several malignancies, in the integumentary, respiratory, hepatobiliary, and urinary systems.
Huang, Hsin-Wei +2 more
openaire +2 more sources
Molecular Oncology, EarlyView.Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad +12 more
wiley +1 more source
The renal clear cell carcinoma immune landscape
Neoplasia: An International Journal for Oncology Research, 2022 A comprehensive evaluation of the clear cell renal cell carcinoma (ccRCC) immune landscape was found using 584 RNA-sequencing datasets from The Cancer Genome Atlas (TCGA), we identified 17 key dysregulated immune-associated genes in ccRCC based on ...
Omar A. Saad +7 more
doaj +1 more source
Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice [PDF]
, 2019 Atypical hemolytic uremic syndrome (aHUS) is frequently associated in humans with loss-of-function mutations in complement-regulating proteins or gain-of-function mutations in complement-activating proteins.
Atkinson, John P +11 more
core +3 more sources
Cytokine release syndrome in COVID-19 patients, a new scenario for an old concern. The fragile balance between infections and autoimmunity [PDF]
, 2020 On 7 January 2020, researchers isolated and sequenced in China from patients with severe pneumonitis a novel coronavirus, then called SARS-CoV-2, which rapidly spread worldwide, becoming a global health emergency.
Diamanti, A. P. +4 more
core +2 more sources
A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome
bioRxiv, 2020 Pathogenic COPA variants cause a Mendelian syndrome of immune dysregulation with elevated type I interferon signaling1,2. COPA is a subunit of coat protein complex I (COPI) that mediates Golgi to ER transport3.
Zimu Deng +9 more
semanticscholar +1 more source
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation
Frontiers in Immunology, 2021 A growing number of monogenic immune-mediated diseases have been related to genes involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate cytoskeleton defects to autoinflammatory diseases and primary immunodeficiencies.
R. Papa, F. Penco, S. Volpi, M. Gattorno
semanticscholar +1 more source
Molecular Oncology, EarlyView.The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués +3 more
wiley +1 more source
Down Syndrome and COVID-19: A Perfect Storm?
Cell Reports Medicine, 2020 People with Down syndrome show signs of chronic immune dysregulation, including a higher prevalence of autoimmune disorders, increased rates of hospitalization during respiratory viral infections, and higher mortality rates from pneumonia and sepsis.
Joaquin M. Espinosa
doaj +1 more source