• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

肥大细胞增多症患者群体中的c-kit突变

c-kit mutation in a population of patients with mastocytosis.

作者信息

Nagata H, Okada T, Worobec A S, Semere T, Metcalfe D D

机构信息

Department of Otolaryngology, Chiba University School of Medicine, Japan.

出版信息

Int Arch Allergy Immunol. 1997 May-Jul;113(1-3):184-6. doi: 10.1159/000237541.

DOI:10.1159/000237541
PMID:9130517
Abstract

The c-kit Asp816Val activating mutation is found in all patients with mastocytosis with an associated hematologic disorder, and at least in a subset of patients with indolent mastocytosis. The case of an 11-month-old child is presented who was categorized as having indolent mastocytosis, and where the Asp816Val mutation was identified in lesional skin, but not in bone marrow or in peripheral blood mononuclear cell populations. The significance of these findings is discussed.

摘要

在所有伴有相关血液系统疾病的肥大细胞增多症患者中均发现c-kit Asp816Val激活突变，并且至少在一部分惰性肥大细胞增多症患者中也有发现。本文报告了一名11个月大儿童的病例，其被归类为惰性肥大细胞增多症，在其皮损中鉴定出Asp816Val突变，但在骨髓或外周血单核细胞群体中未发现该突变。文中讨论了这些发现的意义。

相似文献

1
c-kit mutation in a population of patients with mastocytosis.肥大细胞增多症患者群体中的c-kit突变
Int Arch Allergy Immunol. 1997 May-Jul;113(1-3):184-6. doi: 10.1159/000237541.
2
Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis.肥大细胞增多症患者T细胞、B细胞和骨髓单核细胞中c-kit的表面表达及c-kit Asp816Val激活突变的发生情况分析。
Exp Hematol. 2000 Feb;28(2):140-7. doi: 10.1016/s0301-472x(99)00145-9.
3
Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.肥大细胞增多症患者外周血单个核细胞中Asp816Val c-kit突变存在情况的临床关联
Cancer. 1998 Nov 15;83(10):2120-9. doi: 10.1002/(sici)1097-0142(19981115)83:10<2120::aid-cncr10>3.0.co;2-c.
4
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.在伴有血液系统疾病的肥大细胞增多症患者外周血单个核细胞中原癌基因c-kit催化结构域点突变的鉴定。
Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10560-4. doi: 10.1073/pnas.92.23.10560.
5
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation.表达具有激活型Asp816Val突变的人Kit受体的小鼠中的肥大细胞增多症。
J Exp Med. 2005 Dec 19;202(12):1635-41. doi: 10.1084/jem.20050807. Epub 2005 Dec 13.
6
Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior.成人惰性肥大细胞增多症中存在激活型c-kit突变，而儿童期发病者则无：对不同临床行为的一种可能解释。
J Invest Dermatol. 1998 Dec;111(6):1227-31. doi: 10.1046/j.1523-1747.1998.00414.x.
7
Comparison of lesional skin c-KIT mutations with clinical phenotype in patients with mastocytosis.肥大细胞增多症患者皮损皮肤 c-KIT 突变与临床表型的比较。
Clin Exp Dermatol. 2018 Jun;43(4):416-422. doi: 10.1111/ced.13362. Epub 2018 Jan 19.
8
Demonstration that mast cells, T cells, and B cells bearing the activating kit mutation D816V occur in clusters within the marrow of patients with mastocytosis.肥大细胞增多症患者骨髓中携带激活型试剂盒突变D816V的肥大细胞、T细胞和B细胞呈簇状出现的证明。
J Mol Diagn. 2004 Nov;6(4):335-42. doi: 10.1016/S1525-1578(10)60529-6.
9
Cytogenetic abnormalities and their lack of relationship to the Asp816Val c-kit mutation in the pathogenesis of mastocytosis.细胞遗传学异常及其在肥大细胞增多症发病机制中与Asp816Val c-kit突变缺乏相关性。
J Allergy Clin Immunol. 1998 Sep;102(3):523-4. doi: 10.1016/s0091-6749(98)70144-7.
10
A new c-kit mutation in a case of aggressive mast cell disease.
Br J Haematol. 1997 Feb;96(2):374-6. doi: 10.1046/j.1365-2141.1997.d01-2042.x.

引用本文的文献

1
Insights in Anaphylaxis and Clonal Mast Cell Disorders.过敏反应与克隆性肥大细胞疾病的见解
Front Immunol. 2017 Jul 10;8:792. doi: 10.3389/fimmu.2017.00792. eCollection 2017.
2
Impaired function of bone marrow stromal cells in systemic mastocytosis.系统性肥大细胞增多症中骨髓基质细胞的功能受损。
Stem Cell Res. 2015 Jul;15(1):42-53. doi: 10.1016/j.scr.2015.04.005. Epub 2015 May 8.
3
Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms.KIT 功能失调：与肥大细胞增殖性疾病和其他肿瘤的关联。
Immunol Allergy Clin North Am. 2014 May;34(2):219-37. doi: 10.1016/j.iac.2014.01.002. Epub 2014 Mar 12.
4
Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.与罕见的种系KIT K509I突变相关的肥大细胞增多症表现出分化良好的肥大细胞表型。
J Allergy Clin Immunol. 2014 Jul;134(1):178-87. doi: 10.1016/j.jaci.2013.12.1090. Epub 2014 Feb 28.
5
Development of mast cells and importance of their tryptase and chymase serine proteases in inflammation and wound healing.肥大细胞的发育及其类胰蛋白酶和糜蛋白酶丝氨酸蛋白酶在炎症和伤口愈合中的重要性。
Adv Immunol. 2014;122:211-52. doi: 10.1016/B978-0-12-800267-4.00006-7.
6
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation.儿童期起病的肥大细胞增多症患者的c-kit突变及基因型-表型相关性
J Mol Diagn. 2005 May;7(2):252-7. doi: 10.1016/S1525-1578(10)60552-1.
7
Paediatric mastocytosis.小儿肥大细胞增多症
Arch Dis Child. 2002 May;86(5):315-9. doi: 10.1136/adc.86.5.315.
8
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.在人类肥大细胞增多症的不同临床形式中，c-KIT催化结构域存在激活型和显性失活型突变。
Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1609-14. doi: 10.1073/pnas.96.4.1609.