Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2019-03-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-09198-7 |
| _version_ | 1818342624595017728 |
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| author | Eevi Kaasinen Outi Kuismin Kristiina Rajamäki Heikki Ristolainen Mervi Aavikko Johanna Kondelin Silva Saarinen Davide G. Berta Riku Katainen Elina A. M. Hirvonen Auli Karhu Aurora Taira Tomas Tanskanen Amjad Alkodsi Minna Taipale Ekaterina Morgunova Kaarle Franssila Rainer Lehtonen Markus Mäkinen Kristiina Aittomäki Aarno Palotie Mitja I. Kurki Olli Pietiläinen Morgane Hilpert Elmo Saarentaus Jaakko Niinimäki Juhani Junttila Kari Kaikkonen Pia Vahteristo Radek C. Skoda Mikko R. J. Seppänen Kari K. Eklund Jussi Taipale Outi Kilpivaara Lauri A. Aaltonen |
| author_facet | Eevi Kaasinen Outi Kuismin Kristiina Rajamäki Heikki Ristolainen Mervi Aavikko Johanna Kondelin Silva Saarinen Davide G. Berta Riku Katainen Elina A. M. Hirvonen Auli Karhu Aurora Taira Tomas Tanskanen Amjad Alkodsi Minna Taipale Ekaterina Morgunova Kaarle Franssila Rainer Lehtonen Markus Mäkinen Kristiina Aittomäki Aarno Palotie Mitja I. Kurki Olli Pietiläinen Morgane Hilpert Elmo Saarentaus Jaakko Niinimäki Juhani Junttila Kari Kaikkonen Pia Vahteristo Radek C. Skoda Mikko R. J. Seppänen Kari K. Eklund Jussi Taipale Outi Kilpivaara Lauri A. Aaltonen |
| author_sort | Eevi Kaasinen |
| collection | DOAJ |
| description | Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosis |
| first_indexed | 2024-12-13T16:17:39Z |
| format | Article |
| id | doaj.art-46989eed5d5545f397b38c9c2843f70f |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-13T16:17:39Z |
| publishDate | 2019-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-46989eed5d5545f397b38c9c2843f70f2022-12-21T23:38:49ZengNature PortfolioNature Communications2041-17232019-03-0110111710.1038/s41467-019-09198-7Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humansEevi Kaasinen0Outi Kuismin1Kristiina Rajamäki2Heikki Ristolainen3Mervi Aavikko4Johanna Kondelin5Silva Saarinen6Davide G. Berta7Riku Katainen8Elina A. M. Hirvonen9Auli Karhu10Aurora Taira11Tomas Tanskanen12Amjad Alkodsi13Minna Taipale14Ekaterina Morgunova15Kaarle Franssila16Rainer Lehtonen17Markus Mäkinen18Kristiina Aittomäki19Aarno Palotie20Mitja I. Kurki21Olli Pietiläinen22Morgane Hilpert23Elmo Saarentaus24Jaakko Niinimäki25Juhani Junttila26Kari Kaikkonen27Pia Vahteristo28Radek C. Skoda29Mikko R. J. Seppänen30Kari K. Eklund31Jussi Taipale32Outi Kilpivaara33Lauri A. Aaltonen34Department of Medical and Clinical Genetics, University of HelsinkiDepartment of Clinical Genetics, Oulu University HospitalDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiGenome-Scale Biology, Research Programs Unit, University of HelsinkiDepartment of Biosciences and Nutrition, Karolinska InstitutetDepartment of Biosciences and Nutrition, Karolinska InstitutetHUSLAB, Helsinki University HospitalGenome-Scale Biology, Research Programs Unit, University of HelsinkiCancer and Translational Medicine Research Unit, University of OuluDepartment of Clinical Genetics, Helsinki University HospitalInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of HelsinkiAnalytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry, Massachusetts General HospitalThe Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and HarvardDepartment of Biomedicine, Experimental Hematology, University Hospital Basel and University of BaselInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of HelsinkiMedical Research Center Oulu, Oulu University Hospital and University of OuluResearch Unit of Internal Medicine, Medical Research Center Oulu, Oulu University Hospital and University of OuluResearch Unit of Internal Medicine, Medical Research Center Oulu, Oulu University Hospital and University of OuluDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Biomedicine, Experimental Hematology, University Hospital Basel and University of BaselAdult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University HospitalClinicum, University of HelsinkiGenome-Scale Biology, Research Programs Unit, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiDepartment of Medical and Clinical Genetics, University of HelsinkiSomatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosishttps://doi.org/10.1038/s41467-019-09198-7 |
| spellingShingle | Eevi Kaasinen Outi Kuismin Kristiina Rajamäki Heikki Ristolainen Mervi Aavikko Johanna Kondelin Silva Saarinen Davide G. Berta Riku Katainen Elina A. M. Hirvonen Auli Karhu Aurora Taira Tomas Tanskanen Amjad Alkodsi Minna Taipale Ekaterina Morgunova Kaarle Franssila Rainer Lehtonen Markus Mäkinen Kristiina Aittomäki Aarno Palotie Mitja I. Kurki Olli Pietiläinen Morgane Hilpert Elmo Saarentaus Jaakko Niinimäki Juhani Junttila Kari Kaikkonen Pia Vahteristo Radek C. Skoda Mikko R. J. Seppänen Kari K. Eklund Jussi Taipale Outi Kilpivaara Lauri A. Aaltonen Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans Nature Communications |
| title | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans |
| title_full | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans |
| title_fullStr | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans |
| title_full_unstemmed | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans |
| title_short | Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans |
| title_sort | impact of constitutional tet2 haploinsufficiency on molecular and clinical phenotype in humans |
| url | https://doi.org/10.1038/s41467-019-09198-7 |
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