Blood

, том 127 , издание 8 , страницы 1017-1023

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Тип публикации: Journal Article

Дата публикации: 2016-02-25

American Society of Hematology

Blood

scimago Q1

wos Q1

white level БС1

SJR: 5.823

CiteScore: 23

Impact factor: 23.1

ISSN: 00064971, 15280020

DOI: 10.1182/blood-2015-10-676098

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PubMed ID: 26712909

Biochemistry

Cell Biology

Immunology

Hematology

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Key Points

Novel missense germ line DDX41 mutations define an earlier age of onset of hematologic malignancies than loss-of-function alleles. Carriers of DDX41 germ line mutations usually have normal blood counts until a myeloid or lymphoid malignancy develops.

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Lewinsohn M. et al. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies // Blood. 2016. Vol. 127. No. 8. pp. 1017-1023.

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Lewinsohn M., Brown A., Weinel L. M., Phung C., Rafidi G., Lee M. K., Schreiber A. W., FENG J., Babić M., Chong C., Lee Y., Agnes Y., Suthers G. K., Poplawski N., Altree M., Phillips K., Jaensch L., Fine M., D'Andrea R. J., Lewis I. D., Medeiros B. C., Pollyea D. A., King M., Walsh T., Keel S., Shimamura A., Godley L. A., Hahn C. J., Churpek J. E., Scott H. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies // Blood. 2016. Vol. 127. No. 8. pp. 1017-1023.

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TY - JOUR

DO - 10.1182/blood-2015-10-676098

UR - https://doi.org/10.1182/blood-2015-10-676098

TI - Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

T2 - Blood

AU - Lewinsohn, Maya

AU - Brown, Anna

AU - Weinel, Luke M.

AU - Phung, Connie

AU - Rafidi, George

AU - Lee, Ming K.

AU - Schreiber, Andreas W

AU - FENG, JINGHUA

AU - Babić, Milena

AU - Chong, Chan-Eng

AU - Lee, Young

AU - Agnes, Yong

AU - Suthers, Graeme K

AU - Poplawski, Nicola

AU - Altree, Meryl

AU - Phillips, Kerry

AU - Jaensch, Louise

AU - Fine, Miriam

AU - D'Andrea, Richard J.

AU - Lewis, Ian D.

AU - Medeiros, Bruno C.

AU - Pollyea, Daniel A

AU - King, Mary-Claire

AU - Walsh, Tom

AU - Keel, Siobán

AU - Shimamura, Akiko

AU - Godley, Lucy A.

AU - Hahn, Christopher J

AU - Churpek, Jane E

AU - Scott, Hamish

PY - 2016

DA - 2016/02/25

PB - American Society of Hematology

SP - 1017-1023

IS - 8

VL - 127

PMID - 26712909

SN - 0006-4971

SN - 1528-0020

ER -

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@article{2016_Lewinsohn,

author = {Maya Lewinsohn and Anna Brown and Luke M. Weinel and Connie Phung and George Rafidi and Ming K. Lee and Andreas W Schreiber and JINGHUA FENG and Milena Babić and Chan-Eng Chong and Young Lee and Yong Agnes and Graeme K Suthers and Nicola Poplawski and Meryl Altree and Kerry Phillips and Louise Jaensch and Miriam Fine and Richard J. D'Andrea and Ian D. Lewis and Bruno C. Medeiros and Daniel A Pollyea and Mary-Claire King and Tom Walsh and Siobán Keel and Akiko Shimamura and Lucy A. Godley and Christopher J Hahn and Jane E Churpek and Hamish Scott},

title = {Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies},

journal = {Blood},

year = {2016},

volume = {127},

publisher = {American Society of Hematology},

month = {feb},

url = {https://doi.org/10.1182/blood-2015-10-676098},

number = {8},

pages = {1017--1023},

doi = {10.1182/blood-2015-10-676098}

}

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Lewinsohn, Maya, et al. “Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.” Blood, vol. 127, no. 8, Feb. 2016, pp. 1017-1023. https://doi.org/10.1182/blood-2015-10-676098.