• 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

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.

作者信息

Smith Bradley N, Evans Catherine, Ali Akbar, Ancliff Phil J, Hayee Bu'hussain, Segal Anthony W, Hall Georgina, Kaya Zuhre, Shakoori Abdul Rauf, Linch David C, Gale Rosemary E

出版信息

Br J Haematol. 2012 Jul;158(1):146-9. doi: 10.1111/j.1365-2141.2012.09110.x. Epub 2012 Apr 2.

DOI:10.1111/j.1365-2141.2012.09110.x
PMID:22469094
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4533883/
Abstract
摘要

相似文献

1
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.严重先天性中性粒细胞减少症患者中与G6PC3突变相关的表型异质性及奠基者效应证据
Br J Haematol. 2012 Jul;158(1):146-9. doi: 10.1111/j.1365-2141.2012.09110.x. Epub 2012 Apr 2.
2
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.先天性中性粒细胞减少症患者中的新型G6PC3突变：病例报告及文献综述
Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668. doi: 10.2174/1871530321666210616110631.
3
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.由 G6PC3 缺乏导致的严重先天性中性粒细胞减少症，伴有中性粒细胞 CXCR4 表达增加和髓系细胞嵌合。
Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.
4
A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.G6PC3基因的一种新型突变与非综合征性严重先天性中性粒细胞减少症相关。
Indian Pediatr. 2020 Jun 15;57(6):574-575.
5
Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.一名患有与G6PC3突变相关的严重先天性中性粒细胞减少症的患者出现慢性中性粒细胞减少性结肠炎并伴有完全性结肠梗阻。
Ann Hematol. 2022 Jul;101(7):1583-1585. doi: 10.1007/s00277-022-04772-4. Epub 2022 Jan 27.
6
G6PC3 mutations cause non-syndromic severe congenital neutropenia.G6PC3 突变导致非综合征性严重先天性中性粒细胞减少症。
Mol Genet Metab. 2013 Feb;108(2):138-41. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21.
7
A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.1例4型严重先天性中性粒细胞减少症（G6PC3突变）患者外周血涂片出现大血小板。
J Pediatr Hematol Oncol. 2016 May;38(4):324-8. doi: 10.1097/MPH.0000000000000504.
8
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.严重先天性中性粒细胞减少症中的一种新型G6PC3基因突变：全血细胞减少和可变骨髓表型也可能是该综合征的一部分。
Eur J Haematol. 2015 Jan;94(1):79-82. doi: 10.1111/ejh.12349. Epub 2014 May 13.
9
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.G6PC3 突变导致的普遍葡萄糖-6-磷酸酶缺乏症的临床和分子综述。
Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84.
10
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by Mutations.两名因突变导致严重先天性4型中性粒细胞减少症的中国患者中性粒细胞功能改变
Front Immunol. 2021 Jul 8;12:699743. doi: 10.3389/fimmu.2021.699743. eCollection 2021.

引用本文的文献

1
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.导致G6PC3缺乏的奠基者突变的分子与临床特征
J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0.
2
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.导致G6PC3缺乏的奠基者突变的分子与临床特征
Res Sq. 2024 Jul 11:rs.3.rs-4595246. doi: 10.21203/rs.3.rs-4595246/v1.
3
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.导致G6PC3缺乏的奠基者突变的分子与临床特征
medRxiv. 2024 May 14:2024.05.13.24307299. doi: 10.1101/2024.05.13.24307299.
4
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.重新审视糖基化先天性疾病的免疫病理学：最新综述。
Front Immunol. 2024 Mar 14;15:1350101. doi: 10.3389/fimmu.2024.1350101. eCollection 2024.
5
Intestinal Immune Imbalance is an Alarm in the Development of IBD.肠道免疫失衡是 IBD 发展的警报。
Mediators Inflamm. 2023 Jul 31;2023:1073984. doi: 10.1155/2023/1073984. eCollection 2023.
6
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.由于G6PC3缺乏导致的严重先天性中性粒细胞减少症：一名患者的早期和延迟表型
Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4.
7
Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.一名患有与G6PC3突变相关的严重先天性中性粒细胞减少症的患者出现慢性中性粒细胞减少性结肠炎并伴有完全性结肠梗阻。
Ann Hematol. 2022 Jul;101(7):1583-1585. doi: 10.1007/s00277-022-04772-4. Epub 2022 Jan 27.
8
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.人类代谢酶缺乏症：基于基因突变的研究方法。
Scientifica (Cairo). 2016;2016:9828672. doi: 10.1155/2016/9828672. Epub 2016 Mar 9.
9
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.葡萄糖-6-磷酸酶-β缺乏所致严重先天性中性粒细胞减少综合征中突变的功能分析
Mol Genet Metab. 2015 Jan;114(1):41-5. doi: 10.1016/j.ymgme.2014.11.012. Epub 2014 Nov 26.
10
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.来自法国严重先天性中性粒细胞减少症登记处的14例G6PC3基因突变患者的临床谱及长期随访
Orphanet J Rare Dis. 2014 Dec 10;9:183. doi: 10.1186/s13023-014-0183-8.

本文引用的文献

1
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.人类葡萄糖-6-磷酸酶催化亚基 3 缺乏症的扩展谱：严重先天性中性粒细胞减少症中新型基因型和表型变异性。
J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.
2
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.G6PC3 突变与糖基化的主要缺陷有关：中性粒细胞功能障碍的新机制。
Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8.
3
Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship?G6PC3突变中骨髓形态的变异性：是否存在基因型-表型相关性或年龄依赖性关系？
Am J Hematol. 2011 Feb;86(2):235-7. doi: 10.1002/ajh.21930.
4
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.由于 G6PC3 突变导致的严重先天性中性粒细胞减少症 4 型表型的进一步描述。
Eur J Hum Genet. 2011 Jan;19(1):18-22. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18.
5
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.由 G6PC3 缺乏导致的严重先天性中性粒细胞减少症，伴有中性粒细胞 CXCR4 表达增加和髓系细胞嵌合。
Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.
6
Digenic mutations in severe congenital neutropenia.严重先天性中性粒细胞减少症中的双基因突变。
Haematologica. 2010 Jul;95(7):1207-10. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.
7
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.ELANE、GFI1、HAX1、SBDS、WAS 和 G6PC3 基因突变在严重先天性中性粒细胞减少症患者中的流行情况。
Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.
8
A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.一种新型的G6PC3纯合子1碱基缺失导致严重先天性中性粒细胞减少症。
Blood. 2009 Aug 20;114(8):1718-9. doi: 10.1182/blood-2009-04-219451.
9
A syndrome with congenital neutropenia and mutations in G6PC3.一种伴有先天性中性粒细胞减少及 G6PC3 基因突变的综合征。
N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051.
10
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.散发性严重先天性中性粒细胞减少症患者中的纯合HAX1突变：两个不相关英国家族中的一种新突变。
Br J Haematol. 2009 Mar;144(5):762-70. doi: 10.1111/j.1365-2141.2008.07493.x. Epub 2008 Nov 22.