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Survey and evaluation of mutations in the human KLF1 transcription unit
Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920080/ https://www.ncbi.nlm.nih.gov/pubmed/29700354 http://dx.doi.org/10.1038/s41598-018-24962-3 |
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author | Gnanapragasam, Merlin Nithya Crispino, John D. Ali, Abdullah M. Weinberg, Rona Hoffman, Ronald Raza, Azra Bieker, James J. |
author_facet | Gnanapragasam, Merlin Nithya Crispino, John D. Ali, Abdullah M. Weinberg, Rona Hoffman, Ronald Raza, Azra Bieker, James J. |
author_sort | Gnanapragasam, Merlin Nithya |
collection | PubMed |
description | Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the KLF1 transcription unit in cell lines, erythroid neoplasms, dysplastic disorders, and leukemia. In addition, we queried published databases from a number of varied sources. In all cases we only found changes in commonly notated SNPs. Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare. |
format | Online Article Text |
id | pubmed-5920080 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-59200802018-05-01 Survey and evaluation of mutations in the human KLF1 transcription unit Gnanapragasam, Merlin Nithya Crispino, John D. Ali, Abdullah M. Weinberg, Rona Hoffman, Ronald Raza, Azra Bieker, James J. Sci Rep Article Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the KLF1 transcription unit in cell lines, erythroid neoplasms, dysplastic disorders, and leukemia. In addition, we queried published databases from a number of varied sources. In all cases we only found changes in commonly notated SNPs. Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare. Nature Publishing Group UK 2018-04-26 /pmc/articles/PMC5920080/ /pubmed/29700354 http://dx.doi.org/10.1038/s41598-018-24962-3 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Gnanapragasam, Merlin Nithya Crispino, John D. Ali, Abdullah M. Weinberg, Rona Hoffman, Ronald Raza, Azra Bieker, James J. Survey and evaluation of mutations in the human KLF1 transcription unit |
title | Survey and evaluation of mutations in the human KLF1 transcription unit |
title_full | Survey and evaluation of mutations in the human KLF1 transcription unit |
title_fullStr | Survey and evaluation of mutations in the human KLF1 transcription unit |
title_full_unstemmed | Survey and evaluation of mutations in the human KLF1 transcription unit |
title_short | Survey and evaluation of mutations in the human KLF1 transcription unit |
title_sort | survey and evaluation of mutations in the human klf1 transcription unit |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920080/ https://www.ncbi.nlm.nih.gov/pubmed/29700354 http://dx.doi.org/10.1038/s41598-018-24962-3 |
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