• 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

Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.

作者信息

Milunsky Aubrey, Lazier Joanna, Baldwin Clinton, Young Carmen, Primack Daniel, Milunsky Jeff M

机构信息

Center for Human Genetics, Cambridge, MA, USA.

Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.

出版信息

Prenat Diagn. 2017 Dec;37(12):1254-1256. doi: 10.1002/pd.5171. Epub 2017 Nov 28.

DOI:10.1002/pd.5171
PMID:29072330
Abstract
摘要

相似文献

1
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.慢性肠道假性梗阻的产前诊断及ACTG2致病变异的父源体细胞嵌合现象
Prenat Diagn. 2017 Dec;37(12):1254-1256. doi: 10.1002/pd.5171. Epub 2017 Nov 28.
2
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).胎儿巨膀胱遗传学的新见解:ACTG2突变,其在巨膀胱-小结肠-肠蠕动不良综合征(伯登综合征)中编码γ-2平滑肌肌动蛋白
Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13.
3
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.ACTG2 中的变异是相当数量的澳大拉西亚原发性慢性肠假性梗阻患者的基础。
Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.
4
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.通过对ACTG2基因进行测序诊断慢性肠假性梗阻和巨膀胱症。
J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):384-387. doi: 10.1097/MPG.0000000000001608.
5
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.ACTG2基因的变异与慢性肠假性梗阻的严重程度和巨膀胱的存在相关。
Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.
6
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.伴有慢性假性肠梗阻、肠旋转不良、肥厚性幽门狭窄、胆总管囊肿及一种新型错义突变的ACTG2相关性内脏肌病
Int J Surg Pathol. 2019 Feb;27(1):77-83. doi: 10.1177/1066896918786586. Epub 2018 Jul 18.
7
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.新型 ACTG2 变异揭示了儿科慢性肠假性梗阻中的等位基因异质性和双等位基因遗传。
Clin Genet. 2021 Mar;99(3):430-436. doi: 10.1111/cge.13895. Epub 2020 Dec 14.
8
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.肠平滑肌肌球蛋白γ-2 错义变异与常染色体显性家族性内脏肌病的分离。
Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.
9
Expanding the genotypic spectrum of -related visceral myopathy.扩展 -相关内脏性肌病的基因型谱。
Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3). doi: 10.1101/mcs.a006085. Print 2021 Jun.
10
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.检测到不同新发Actg2基因突变的巨膀胱-小结肠-肠蠕动不良综合征:一例报告
Fetal Pediatr Pathol. 2018 Apr;37(2):109-116. doi: 10.1080/15513815.2018.1445149. Epub 2018 Apr 2.

引用本文的文献

1
Prenatal Diagnosis of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome-Case Report and Systematic Review.与ACTG2相关的巨膀胱-小结肠-肠蠕动减少综合征的产前诊断——病例报告及系统评价
J Clin Med. 2025 May 6;14(9):3204. doi: 10.3390/jcm14093204.
2
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.导致内脏型肌病的 ACTG2 错义突变的分子机制。
Sci Adv. 2024 May 31;10(22):eadn6615. doi: 10.1126/sciadv.adn6615.
3
Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (, , , , , and ).
平滑肌运动障碍表型:对与七个致病基因(、、、、、和)相关病例的系统评价
Intractable Rare Dis Res. 2022 Aug;11(3):113-119. doi: 10.5582/irdr.2022.01060.
4
Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis.伴有巨膀胱的小儿慢性假性肠梗阻的变异型
J Neurogastroenterol Motil. 2022 Jan 30;28(1):104-110. doi: 10.5056/jnm20243.
5
Visceral myopathy diagnosed by a de novo mutation in a patient with chronic intestinal pseudo-obstruction-a case report.通过新发突变诊断的慢性假性肠梗阻患者的内脏肌病——病例报告
Transl Pediatr. 2021 Mar;10(3):679-685. doi: 10.21037/tp-20-316.
6
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.内脏肌病:临床综合征、遗传学、病理生理学和细胞骨架的崩塌。
Am J Physiol Gastrointest Liver Physiol. 2021 Jun 1;320(6):G919-G935. doi: 10.1152/ajpgi.00066.2021. Epub 2021 Mar 17.
7
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.ACTG2基因中反复出现的精氨酸替代是内脏肌病疾病负担和严重程度的主要驱动因素。
Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19.