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...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/46989eed5d5545f397b38c9c2843f70f
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spelling	oai:doaj.org-article:46989eed5d5545f397b38c9c2843f70f2021-12-02T16:57:43ZImpact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans10.1038/s41467-019-09198-72041-1723https://doaj.org/article/46989eed5d5545f397b38c9c2843f70f2019-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09198-7https://doaj.org/toc/2041-1723Somatic 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 atherosclerosisEevi KaasinenOuti KuisminKristiina RajamäkiHeikki RistolainenMervi AavikkoJohanna KondelinSilva SaarinenDavide G. BertaRiku KatainenElina A. M. HirvonenAuli KarhuAurora TairaTomas TanskanenAmjad AlkodsiMinna TaipaleEkaterina MorgunovaKaarle FranssilaRainer LehtonenMarkus MäkinenKristiina AittomäkiAarno PalotieMitja I. KurkiOlli PietiläinenMorgane HilpertElmo SaarentausJaakko NiinimäkiJuhani JunttilaKari KaikkonenPia VahteristoRadek C. SkodaMikko R. J. SeppänenKari K. EklundJussi TaipaleOuti KilpivaaraLauri A. AaltonenNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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
format	article
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
title	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_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_sort	impact of constitutional tet2 haploinsufficiency on molecular and clinical phenotype in humans
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/46989eed5d5545f397b38c9c2843f70f
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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

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