Many disease-associated variants of hTERT retain high telomerase enzymatic activity

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Many disease-associated variants of hTERT retain high telomerase enzymatic activity

Mutations in the gene for telomerase reverse transcriptase (hTERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibrosis and cancer. Understanding the molecular basis of these telomerase-associated diseases requires dependable quantitative measurements of telomerase enzyme activity. Furthermore, recent findings that the human POT1-TPP1 chromosome end...

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Expression Pattern of Alternative Splicing Variants of Human Telomerase Reverse Transcriptase (hTERT) in Cancer Cell Lines Was not Associated with the Origin of the Cells

Telomerase and systems controlling their activity have been of great attention. There are controversies regarding the role of the alternative splicing forms of the human telomerase reverse transcriptase (hTERT), the catalytic subunit of telomerase. Therefore, the correlation between telomerase enzyme activity, the abundance of alternatively spliced variants of hTERT and doubling time of a seri...

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There is a close relationship between telomeres-telomerase and age-related disease. Human telomerase reverse transcriptase (hTERT) is both the catalytic component of human telomerase and the rate-limiting determinant of telomerase activity. Its transcriptional regulation is the primary mode of control of telomerase activity. It is critical to find the proteins interacting with hTERT for explori...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2013

ISSN: 1362-4962,0305-1048

DOI: 10.1093/nar/gkt653