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The expanded GAA triplet-repeat sequence results in deficiency of FXN transcript via at least two mechanisms: deficient transcriptional elongation through the expanded repeat tract [3], [16], [17] and epigenetic silencing [6] [8].
Interestingly, ER stress-related gene signatures were increased in synovial cells in rheumatoid arthritis and in deficiency of GRP78-inhibited collagen-induced arthritis38, and deletion of IRE1α in myeloid cells protected mice from arthritis in a K/BxN serum transfer model37.
Cerebral adrenoleukodystrophy (CALD) is a rapidly progressing, often fatal neurodegenerative disease caused by mutations in the ABCD1 gene, resulting in deficiency of ALD protein.
The expanded GAA triplet-repeat results in deficiency of FXN gene transcription, which is reversed via administration of histone deacetylase inhibitors indicating that transcriptional silencing is at least partially due to an epigenetic abnormality.
The dilemma of HCC might lie in deficiency of effective drugs.
Ethylene plays an important role in change of mechanisms of plants in deficiency of oxygen.
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More than 5,000 distinct diseases have been ascribed to mutations that result in deficiencies of critical enzymes.
General pituitary or adrenal insufficiency results in deficiencies of many hormones and produces a complex disturbance of many body functions, usually requiring urgent treatment.
They went one important step further, to factor in deficiencies of specific nutrients that are directly related to important human health outcomes, including micronutrients like zinc, calcium and iron, vitamins A and B12 and DHA omega-3 fatty acids.
Patients on a restricted diet frequently suffer nutrient and mineral malabsorption, resulting in deficiencies of iron or calcium, and consequently in anemia and osteoporosis, respectively.
Further investigation of the transcription factors newly identified by our analyses may provide new clues towards gene regulation in deficiencies of the oxidative phosphorylation system.
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