• 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

Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.

作者信息

Windhorst D B, Zelickson A S, Good R A

出版信息

Science. 1966 Jan 7;151(3706):81-3. doi: 10.1126/science.151.3706.81.

DOI:10.1126/science.151.3706.81
PMID:5908967
Abstract

In the Chediak-Higashi syndrome, an anomalous hypopigmentation is associated with large lysosomal granules in the blood leukocytes. Since the inheritance pattern is that of an autosomal recessive trait, we postulated a common mechanism for these two primary features of the disease. Electron microscopy of melanocytes revealed that the pigmentary anomaly is indeed based on giant melanosomes. Since both types of granules, leukocytic and melanosomal, are characterized by limiting membranes, Chediak-Higashi disease may be a genetic disease of membranes.

摘要

相似文献

1
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.
Science. 1966 Jan 7;151(3706):81-3. doi: 10.1126/science.151.3706.81.
2
Aberrant melanosome development in the retinal pigmented epithelium of cats with Chediak-Higashi syndrome.
Exp Eye Res. 1985 Sep;41(3):305-11. doi: 10.1016/s0014-4835(85)80021-x.
3
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.皮肤活检作为诊断银发综合征工具的实用性。
Pediatr Dermatol. 2018 Nov;35(6):780-783. doi: 10.1111/pde.13624. Epub 2018 Oct 18.
4
The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation.切迪阿克-东综合征:巨大黑素小体的形成及色素减退的基础。
J Invest Dermatol. 1967 Dec;49(6):575-81. doi: 10.1038/jid.1967.183.
5
Giant cytoplasmic granules in Langerhans cells of Chediak-Higashi syndrome.切迪阿克-希加综合征朗格汉斯细胞中的巨大细胞质颗粒。
Am J Dermatopathol. 1990 Feb;12(1):81-7. doi: 10.1097/00000372-199002000-00012.
6
[Chédiak-Higashi disease (report on a new case) (author's transl)].[切迪阿克-希加希病(一例新病例报告)(作者译)]
Ann Dermatol Venereol. 1978 Oct;105(10):841-9.
7
Normal-sized primary lysosomes are present in Chediak-Higashi syndrome neutrophils.在切-东综合征中性粒细胞中存在正常大小的初级溶酶体。
Pediatr Res. 1987 Aug;22(2):208-15. doi: 10.1203/00006450-198708000-00022.
8
Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.切-东综合征白细胞的杀菌、代谢及溶酶体功能异常。
J Clin Invest. 1972 Mar;51(3):649-65. doi: 10.1172/JCI106854.
9
Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chediak-Higashi syndrome.切-东综合征小鼠模型中视网膜色素上皮的溶酶体和黑色素颗粒
Invest Ophthalmol. 1975 Apr;14(4):312-7.
10
Giant organelles containing tubules in Chediak-Higashi lymphocytes.切-东淋巴细胞中含有微管的巨大细胞器。
Am J Pathol. 1972 Nov;69(2):225-38.

引用本文的文献

1
A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.多系统炎症综合征患儿外周血细胞中一种经基因调控的 toll 样受体耐受表型。
J Immunol. 2025 Mar 18;214(3):373-83. doi: 10.1093/jimmun/vkaf006.
2
Termination of STING responses is mediated via ESCRT-dependent degradation.STING 反应的终止是通过依赖于 ESCRT 的降解来介导的。
EMBO J. 2023 Jun 15;42(12):e112712. doi: 10.15252/embj.2022112712. Epub 2023 May 4.
3
Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.
从 NK 细胞缺陷研究中获得的关于人类健康和 NK 细胞生物学的新见解。
Immunol Rev. 2019 Jan;287(1):202-225. doi: 10.1111/imr.12725.
4
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.细胞骨架肌动蛋白屏障抑制 Chediak-Higashi 综合征患者自然杀伤细胞裂解颗粒的释放。
J Allergy Clin Immunol. 2018 Sep;142(3):914-927.e6. doi: 10.1016/j.jaci.2017.10.040. Epub 2017 Dec 11.
5
Licensed and Unlicensed NK Cells: Differential Roles in Cancer and Viral Control.licensed and unlicensed nk细胞:在癌症和病毒控制中的不同作用。 (注意:原文中“Licensed”和“Unlicensed”在医学领域可能有特定专业含义,这样直接翻译可能不太符合医学准确表述习惯,但按照要求仅做字面翻译)
Front Immunol. 2016 May 2;7:166. doi: 10.3389/fimmu.2016.00166. eCollection 2016.
6
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.切迪阿克-希加什综合征:溶酶体运输调节结构域调节杀伤性颗粒的胞吐作用,但不调节自然杀伤细胞的细胞因子分泌。
J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.
7
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.家族性噬血细胞性淋巴组织细胞增生症:罕见疾病如何揭示免疫系统的功能。
Front Immunol. 2014 Apr 16;5:167. doi: 10.3389/fimmu.2014.00167. eCollection 2014.
8
Genetic defects in Chediak-Higashi syndrome and the beige mouse.切-东综合征和米色小鼠的基因缺陷。
J Clin Immunol. 1998 Mar;18(2):97-105. doi: 10.1023/a:1023247215374.
9
Vision in albinism.白化病患者的视力。
Trans Am Ophthalmol Soc. 1996;94:1095-155.
10
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).将切-东综合征基因定位到1号染色体q42-q44区域的纯合性定位,该区域存在一段保守的同线性片段,其中包括小鼠的米色基因座(bg)。
Am J Hum Genet. 1996 Sep;59(3):620-4.