• 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

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.

作者信息

Grutters Laura A, Klein Wassink-Ruiter Jolien S, Dijkhuizen Trijnie, Nijenhuis Hessel P, Jongbloed Jan D H, Herkert Johanna C

机构信息

Department of Genetics (L.A.G., J.S.K.W.-R., T.D., J.D.H.J., J.C.H.), University of Groningen, University Medical Center Groningen, the Netherlands.

Department of Pediatrics, Center for Congenital Heart Diseases (H.P.N.), University of Groningen, University Medical Center Groningen, the Netherlands.

出版信息

Circ Genom Precis Med. 2023 Oct;16(5):493-495. doi: 10.1161/CIRCGEN.123.004094. Epub 2023 Sep 6.

DOI:10.1161/CIRCGEN.123.004094
PMID:37671554
Abstract
摘要

相似文献

1
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.双等位基因相关心肌病中15号染色体q25.2q25.3的相邻基因缺失：对表型表现和变异谱的新见解
Circ Genom Precis Med. 2023 Oct;16(5):493-495. doi: 10.1161/CIRCGEN.123.004094. Epub 2023 Sep 6.
2
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.扩展 ALPK3 变异体的临床和遗传谱：儿科心肌病患者和杂合变异体成人中鉴定的表型。
Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21.
3
Phenotypic spectrum of ALPK3-related cardiomyopathy.与ALPK3相关的心肌病的表型谱。
Am J Med Genet A. 2019 Jul;179(7):1235-1240. doi: 10.1002/ajmg.a.61176. Epub 2019 May 10.
4
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.在一名患有儿科心肌病和颜面骨骼特征的突尼斯患者中发现了新型 ALPK3 突变。
J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25.
5
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.复合杂合性致晚发性心肌病的 ALPK3 编码变异和新型内含子变异导致婴儿肥厚型心肌病。
J Cardiovasc Transl Res. 2023 Dec;16(6):1325-1331. doi: 10.1007/s12265-023-10461-y. Epub 2023 Nov 16.
6
gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.一名患有先天性心肌病和畸形特征患者的基因突变。
Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi: 10.1101/mcs.a001859. Print 2017 Sep.
7
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with Homozygous and Compound Heterozygous Variants.两例肥厚型心肌病和骨骼肌特征相关的纯合和复合杂合变异病例报告。
Genes (Basel). 2020 Oct 15;11(10):1201. doi: 10.3390/genes11101201.
8
Pathogenesis of Cardiomyopathy Caused by Variants in , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.心肌细胞核和肌节必需的假激酶 变异所致心肌病的发病机制。
Circulation. 2022 Nov 29;146(22):1674-1693. doi: 10.1161/CIRCULATIONAHA.122.059688. Epub 2022 Nov 2.
9
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.ALPK3 中的双等位基因截断突变导致严重的儿科心肌病。
J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093.
10
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.由患者来源的诱导多能干细胞和突变型人类胚胎干细胞产生的 ALPK3 缺陷型心肌细胞表现出异常的钙处理，并证实 ALPK3 缺陷是家族性心肌病的基础。
Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. Epub 2016 Apr 22.

引用本文的文献

1
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.一个家族中三种遗传性疾病并存导致心肌病和多种心脏外异常
Int J Mol Sci. 2024 Jul 10;25(14):7556. doi: 10.3390/ijms25147556.