Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alteration...

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Autores principales: Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Siobán Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b
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spelling oai:doaj.org-article:911d91b30d4548af8f9e72d025592f4b2021-12-02T13:33:04ZDistinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome10.1038/s41467-021-21588-42041-1723https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21588-4https://doaj.org/toc/2041-1723Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alterations.Alyssa L. KennedyKasiani C. MyersJames BowmanChristopher J. GibsonNicholas D. CamardaElissa FurutaniGwen M. MuscatoRobert H. KleinKaitlyn BallottiShanshan LiuChad E. HarrisAshley GalvinMaggie MalschDavid DaleJohn M. GansnerTaizo A. NakanoAlison BertuchAdrianna VlachosJeffrey M. LiptonPaul CastilloJames ConnellyJane ChurpekJohn R. EdwardsNobuko HijiyaRichard H. HoInga HofmannJames N. HuangSiobán KeelAdam LambleBonnie W. LauMaxim NorkinElliot StieglitzWendy StockKelly WalkovichSteffen BoettcherChristian BrendelMark D. FlemingStella M. DaviesEdie A. WellerChristopher BahlScott L. CarterAkiko ShimamuraR. Coleman LindsleyNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Alyssa L. Kennedy
Kasiani C. Myers
James Bowman
Christopher J. Gibson
Nicholas D. Camarda
Elissa Furutani
Gwen M. Muscato
Robert H. Klein
Kaitlyn Ballotti
Shanshan Liu
Chad E. Harris
Ashley Galvin
Maggie Malsch
David Dale
John M. Gansner
Taizo A. Nakano
Alison Bertuch
Adrianna Vlachos
Jeffrey M. Lipton
Paul Castillo
James Connelly
Jane Churpek
John R. Edwards
Nobuko Hijiya
Richard H. Ho
Inga Hofmann
James N. Huang
Siobán Keel
Adam Lamble
Bonnie W. Lau
Maxim Norkin
Elliot Stieglitz
Wendy Stock
Kelly Walkovich
Steffen Boettcher
Christian Brendel
Mark D. Fleming
Stella M. Davies
Edie A. Weller
Christopher Bahl
Scott L. Carter
Akiko Shimamura
R. Coleman Lindsley
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
description Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alterations.
format article
author Alyssa L. Kennedy
Kasiani C. Myers
James Bowman
Christopher J. Gibson
Nicholas D. Camarda
Elissa Furutani
Gwen M. Muscato
Robert H. Klein
Kaitlyn Ballotti
Shanshan Liu
Chad E. Harris
Ashley Galvin
Maggie Malsch
David Dale
John M. Gansner
Taizo A. Nakano
Alison Bertuch
Adrianna Vlachos
Jeffrey M. Lipton
Paul Castillo
James Connelly
Jane Churpek
John R. Edwards
Nobuko Hijiya
Richard H. Ho
Inga Hofmann
James N. Huang
Siobán Keel
Adam Lamble
Bonnie W. Lau
Maxim Norkin
Elliot Stieglitz
Wendy Stock
Kelly Walkovich
Steffen Boettcher
Christian Brendel
Mark D. Fleming
Stella M. Davies
Edie A. Weller
Christopher Bahl
Scott L. Carter
Akiko Shimamura
R. Coleman Lindsley
author_facet Alyssa L. Kennedy
Kasiani C. Myers
James Bowman
Christopher J. Gibson
Nicholas D. Camarda
Elissa Furutani
Gwen M. Muscato
Robert H. Klein
Kaitlyn Ballotti
Shanshan Liu
Chad E. Harris
Ashley Galvin
Maggie Malsch
David Dale
John M. Gansner
Taizo A. Nakano
Alison Bertuch
Adrianna Vlachos
Jeffrey M. Lipton
Paul Castillo
James Connelly
Jane Churpek
John R. Edwards
Nobuko Hijiya
Richard H. Ho
Inga Hofmann
James N. Huang
Siobán Keel
Adam Lamble
Bonnie W. Lau
Maxim Norkin
Elliot Stieglitz
Wendy Stock
Kelly Walkovich
Steffen Boettcher
Christian Brendel
Mark D. Fleming
Stella M. Davies
Edie A. Weller
Christopher Bahl
Scott L. Carter
Akiko Shimamura
R. Coleman Lindsley
author_sort Alyssa L. Kennedy
title Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
title_short Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
title_full Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
title_fullStr Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
title_full_unstemmed Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
title_sort distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in shwachman-diamond syndrome
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b
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