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Gene-specific transcription factors (GSTFs) control of gene transcription by DNA binding and specific protein complex recruitment, which regulates promoter accessibility for transcription initiation by RNA polymerase II. GSTFs that are frequently mutated in colon and rectal carcinomas are Suppressor...
ORGANISM(S): Homo sapiens (Human) 
2016-10-10 | PXD004529 | Pride
Alexander disease (AxD) is a rare, severe neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein (GFAP). While the exact disease mechanism remains unknown, existing studies suggest that the mutant GFAP influences many cellular processes, including cytoskeleton stabilit...
ORGANISM(S): Homo sapiens (Human) 
2024-09-09 | PXD048606 | Pride
Correct chromosome segregation during cell division depends on proper connections between spindle microtubules and kinetochores. During prometaphase, kinetochores are temporarily covered with a dense protein meshwork known as the fibrous corona. Formed by oligomerization of ROD/ZW10/ZWILCH-SPINDLY (...
ORGANISM(S): Homo sapiens (Human) 
2023-10-09 | PXD040338 | Pride
Fusion genes can be oncogenic drivers in a variety of cancer types and represent potential targets for targeted therapy. The BRAF gene is frequently involved in oncogenic fusions, with fusion frequencies of 0.2-3% throughout different cancers. However, BRAF fusions rarely occur in the same gene conf...
ORGANISM(S): Homo sapiens (Human) 
2020-01-16 | PXD013461 | Pride
p16INK4A inhibits the CDK4/6 kinases and is therefore an important cell cycle regulator. Accumulation of p16INK4A in response to oncogenic transformation leads to cellular senescence and it is therefore frequently lost in cancer. p16INK4A is also known to accumulate under conditions of cellular oxid...
ORGANISM(S): Homo sapiens (Human) 
2019-09-04 | PXD012353 | Pride
  ABSTRACT POLR2A encodes RPB1, the largest subunit of the RNA polymerase II (pol II) complex, which is responsible for transcription of all ~21,000 protein-encoding genes. Here we describe the first fifteen patients harboring de novo heterozygous variants in POLR2A. The majority presents with profo...
ORGANISM(S): Homo sapiens (Human) 
2019-09-02 | PXD011355 | Pride
Data from ProteomeXchange, PXD ID: PXD001018. Experiment: HRV_A, file: folder summary. Published as part of Antioxid Redox Signal. 2014 Jul 29 . From the Abstract: {{i}} Reduction-oxidation (redox) signaling, the translation of an oxidative intracellular environment into a cellular response, is med...
ORGANISM(S): Homo_sapiens_viruses, Human 
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