Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases. [PDF]
NPJ Digit MedAlsentzer E +6 more
europepmc +1 more source
Improvement of CSF, WM and GM Tissue Segmentation by Hybrid Fuzzy – Possibilistic Clustering Model based on Genetic Optimization Case Study on Brain Tissues of Patients with Alzheimer’s Disease [PDF]
, 2018 Lilia Lazli, Mounir Boukadoum
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Cytoplasmic p21 promotes stemness of colon cancer cells via activation of the NFκB pathway
Molecular Oncology, EarlyView.Cytoplasmic p21 promotes colorectal cancer stem cell (CSC) features by destabilizing the NFκB–IκB complex, activating NFκB signaling, and upregulating BCL‐xL and COX2. In contrast to nuclear p21, cytoplasmic p21 enhances spheroid formation and stemness transcription factor CD133.
Arnatchai Maiuthed +10 more
wiley +1 more source
Evaluation of Genetic Risk Factors for Life Style Relating Diseases
, 2010 山﨑 義光 +2 more
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Molecular Oncology, EarlyView.HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto +13 more
wiley +1 more source
Gene therapy for genetic diseases: challenges and future directions. [PDF]
MedComm (2020)Qie B, Tuo J, Chen F, Ding H, Lyu L.
europepmc +1 more source
RNA therapy is shining for genetic diseases. [PDF]
Mol Ther Nucleic Acids, 2023 Zheng ZM.
europepmc +1 more source
Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review [PDF]
Ileana-Delia Săbău +7 more
openalex +1 more source
Molecular Oncology, EarlyView.Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra +10 more
wiley +1 more source
An explainable dataset linking facial phenotypes and genes to rare genetic diseases. [PDF]
Sci DataSong J, He M, Ren S, Shen B.
europepmc +1 more source