A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis-Reference-Cited by-同舟云学术

A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis

Published:2014-02-13 Issue:7 Volume:123 Page:1059-1068
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Etheridge S. Leah¹,Cosgrove Megan E.¹,Sangkhae Veena¹,Corbo Lana M.¹,Roh Michelle E.¹,Seeliger Markus A.²,Chan Edward L.³,Hitchcock Ian S.¹

Affiliation:

1. Department of Medicine,

2. Department of Pharmacological Sciences, and

3. Department of Pediatrics, Stony Brook University, Stony Brook, NY

Abstract

Key Points JAK2R564Q is the first germline JAK2 mutation found to contribute to a familial MPN that involves a residue other than V617. The kinase activity of JAK2R564Q and JAK2V617F are the same, but only V617F is able to escape regulation by SOCS3 and p27.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/7/1059/538062/1059.pdf

Reference38 articles.

1. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.;James;Nature,2005

2. A gain-of-function mutation of JAK2 in myeloproliferative disorders.;Kralovics;N Engl J Med,2005

3. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.;Levine;Cancer Cell,2005

4. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.;Baxter;Lancet,2005

5. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.;Levine;Blood,2006

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