JAKs in pathology: Role of Janus kinases in hematopoietic malignancies and immunodeficiencies

被引：174

作者：

Vainchenker, William ^{[1
,4
]}

Dusa, Alexandra ^{[2
,3
]}

Constantinescu, Stefan N. ^{[2
,3
]}

机构：

[1] Inst Gustave Roussy PR 1, INSERM U 790, F-94805 Villejuif, France

[2] Ludwig Inst Canc Res, Brussels Branch, B-1200 Brussels, Belgium

[3] Catholic Univ Louvain, de Duve Inst, B-1200 Brussels, Belgium

[4] Univ Paris 11, F-94805 Villejuif, France

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2008年 / 19卷 / 04期

关键词：

Janus kinases; JAK2; V617F; Myeloproliferative diseases; Exon; 12; mutations; Acute leukemia; Immunodeficiency;

D O I：

10.1016/j.semcdb.2008.07.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 [细胞生物学]; 090102 [作物遗传育种];

摘要：

The four mammalian Janus kinase (JAK) family members, JAK1, JAK2, JAK3 and TYK2, are non-receptor protein tyrosine kinases (PTKs) that are crucial for cytokine receptor signaling in blood formation and immune responses. Mutations and translocations in the JAK genes leading to constitutively active JAK proteins are associated with a variety of hematopoietic malignancies, including the myeloproliferative disorders (JAK2), acute lymphoblastic leukemia (JAK2), acute myeloid leukemia (JAK2, JAK1), acute megakaryoblastic leukemia (JAK2, JAK3) and T-cell precursor acute lymphoblastic leukemia (JAK1). In contrast, loss-of-function mutations of JAK3 and TYK2 lead to immunodeficiency. The role of JAKs as therapeutic targets is starting to expand, as more insights into their structure and activation mechanisms become available. (C) 2008 Elsevier Ltd. All rights reserved.

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收藏

页码：385 / 393

页数：9

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