Distinct genetic pathways define pre-leukemic and compensatory clonal hematopoiesis in Shwachman-Dia...
Distinct genetic pathways define pre-leukemic and compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
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Author / Creator
Kennedy, Alyssa L , Myers, Kasiani C , Bowman, James , Gibson, Christopher J , Camarda, Nicholas D , Furutani, Elissa M , Muscato, Gwen M , Klein, Robert H , Ballotti, Kaitlyn , Liu, Shanshan , Harris, Chad E , Galvin, Ashley , Malsch, Maggie , Dale, David , Gansner, John M , Nakano, Taizo A , Bertuch, Alison , Vlachos, Adrianna , Lipton, Jeffrey M , Castillo, Paul , Connelly, James , Churpek, Jane , Edwards, John R , Hijiya, Nobuko , Ho, Richard H , Hofmann, Inga , Huang, James N , Keel, Sioban , Lamble, Adam , Lau, Bonnie W , Norkin, Maxim , Stieglitz, Elliot , Stock, Wendy , Walkovich, Kelly , Boettcher, Steffen , Brendel, Christian , Fleming, Mark D , Davies, Stella M , Weller, Edie A , Bahl, Christopher , Carter, Scott L , Shimamura, Akiko and R Coleman Lindsley
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with predisposition to developing leukemia. We found that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53. EIF6 mutations cause functional compensation for the germline deficiency by all...
Alternative Titles
Full title
Distinct genetic pathways define pre-leukemic and compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
Authors, Artists and Contributors
Author / Creator
Myers, Kasiani C
Bowman, James
Gibson, Christopher J
Camarda, Nicholas D
Furutani, Elissa M
Muscato, Gwen M
Klein, Robert H
Ballotti, Kaitlyn
Liu, Shanshan
Harris, Chad E
Galvin, Ashley
Malsch, Maggie
Dale, David
Gansner, John M
Nakano, Taizo A
Bertuch, Alison
Vlachos, Adrianna
Lipton, Jeffrey M
Castillo, Paul
Connelly, James
Churpek, Jane
Edwards, John R
Hijiya, Nobuko
Ho, Richard H
Hofmann, Inga
Huang, James N
Keel, Sioban
Lamble, Adam
Lau, Bonnie W
Norkin, Maxim
Stieglitz, Elliot
Stock, Wendy
Walkovich, Kelly
Boettcher, Steffen
Brendel, Christian
Fleming, Mark D
Davies, Stella M
Weller, Edie A
Bahl, Christopher
Carter, Scott L
Shimamura, Akiko
R Coleman Lindsley
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2409777168
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2409777168
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/2020.06.04.134692
How to access this item
https://www.proquest.com/docview/2409777168?pq-origsite=primo&accountid=13902
