• 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

Clinical Validity of Autosomal Dominant Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

作者信息

Hespe Sophie, Singer Emma S, Reuter Chloe, Murray Brittney, Jordan Elizabeth, Chowns Jessica, Peters Stacey, Mayers Megan, Gray Belinda, Hershberger Ray E, Owens Anjali T, Semsarian Christopher, Waddell Amber, Asatryan Babken, Owens Emma, Thaxton Courtney, Adduru Mhy-Lanie, Anderson Kailyn, Brown Emily E, Hoffman-Andrews Lily, Stafford Fergus, Bagnall Richard D, Bronicki Lucas, Callewaert Bert, Chahal C Anwar A, James Cynthia A, Jarinova Olga, Landstrom Andrew P, McNally Elizabeth M, Muiño-Mosquera Laura, Parikh Victoria, Walsh Roddy, Wayburn Bess, Ware James S, Parker Benjamin L, Porrello Enzo R, Elliott David A, McNamara James W, Ingles Jodie

机构信息

Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia (S.H., F.S., J.I.).

Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.

出版信息

Circ Genom Precis Med. 2025 Jun;18(3):e004976. doi: 10.1161/CIRCGEN.124.004976. Epub 2025 Apr 21.

DOI:10.1161/CIRCGEN.124.004976
PMID:40255155
Abstract
摘要

相似文献

1
Clinical Validity of Autosomal Dominant Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.常染色体显性功能丧失变异作为肥厚型心肌病病因的临床有效性
Circ Genom Precis Med. 2025 Jun;18(3):e004976. doi: 10.1161/CIRCGEN.124.004976. Epub 2025 Apr 21.
2
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.在一个大型法国多中心队列中与 ALPK3 缺失变异相关的患病率和表型：证实其与肥厚型心肌病有关。
Clin Genet. 2024 Jun;105(6):676-682. doi: 10.1111/cge.14505. Epub 2024 Feb 14.
3
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.
4
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.一种导致常染色体显性肥厚型心肌病的ALPK3截短变异体被mavacamten部分挽救。
Sci Rep. 2025 Mar 24;15(1):10090. doi: 10.1038/s41598-025-94371-w.
5
The Involvement of in Hypertrophic Cardiomyopathy in East Asia.东亚地区肥厚型心肌病中[具体内容缺失]的参与情况 。
Front Med (Lausanne). 2022 Jun 15;9:915649. doi: 10.3389/fmed.2022.915649. eCollection 2022.
6
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.
7
High prevalence of premature terminating variants in Korean hypertrophic cardiomyopathy patients.韩国肥厚型心肌病患者中提前终止变异的高患病率。
Front Cardiovasc Med. 2024 Jul 5;11:1424551. doi: 10.3389/fcvm.2024.1424551. eCollection 2024.
8
Spectrum and genotype-phenotype relationship of variants in Chinese patients with hypertrophic cardiomyopathy.中国肥厚型心肌病患者变异的谱型及基因型-表型关系
Heliyon. 2024 Jun 10;10(12):e32786. doi: 10.1016/j.heliyon.2024.e32786. eCollection 2024 Jun 30.
9
Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.全外显子组测序鉴定出处于复合杂合状态的新型截短型ALPK3变异体，其与小儿肥厚型心肌病及表型异质性相关。
Gene. 2025 Sep 5;963:149597. doi: 10.1016/j.gene.2025.149597. Epub 2025 May 28.
10
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.

引用本文的文献

1
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.与肥厚型心肌病相关的基因：临床基因组学遗传性心血管疾病基因评估专家小组的重新评估
J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016/j.jacc.2024.12.010.
2
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.临床基因组学遗传性心血管疾病基因评估专家小组：对与肥厚型心肌病相关基因的重新评估
medRxiv. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195.