• 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

MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects.

作者信息

Fritz Daniel I, Hanada Toshihiko, Lu Yunzhe, Martin Johnston J, Chishti Athar H

机构信息

Department of Developmental, Molecular, and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts.

Sackler School of Graduate Biomedical Sciences, Program in Cellular, Molecular, and Developmental Biology, Tufts University School of Medicine, Boston, Massachusetts.

出版信息

Am J Hematol. 2019 Jan;94(1):E29-E32. doi: 10.1002/ajh.25323. Epub 2018 Dec 2.

DOI:10.1002/ajh.25323
PMID:30358901
Abstract
摘要

相似文献

1
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects.一名患有缺指（趾）畸形和严重发育缺陷的甲型血友病患者的MPP1/p55基因缺失
Am J Hematol. 2019 Jan;94(1):E29-E32. doi: 10.1002/ajh.25323. Epub 2018 Dec 2.
2
Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects.5q22.3 缺失相关颅面和肢体缺陷的基因型-表型相关性。
Gene. 2012 Feb 15;494(1):105-8. doi: 10.1016/j.gene.2011.11.063. Epub 2011 Dec 8.
3
Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies.对孕早期干扰导致口下颌肢体发育不全谱系异常的进一步支持。
Clin Dysmorphol. 2014 Jul;23(3):101-104. doi: 10.1097/MCD.0000000000000039.
4
Genitourinary anomalies of pediatric FG syndrome.小儿FG综合征的泌尿生殖系统异常
J Urol. 2007 Aug;178(2):656-9. doi: 10.1016/j.juro.2007.04.007. Epub 2007 Jun 15.
5
Splenogonadal fusion-limb defect "syndrome" and associated malformations.脾性腺融合-肢体缺陷“综合征”及相关畸形。
Am J Med Genet A. 2003 Aug 1;120A(4):518-22. doi: 10.1002/ajmg.a.10728.
6
[Extra-cardiac phenotype associated with microdeletion 22q11].[与22q11微缺失相关的心脏外表型]
Arch Pediatr. 2002 May;9 Suppl 2:100s-101s. doi: 10.1016/s0929-693x(01)00908-3.
7
A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.一种新的X染色体微缺失，其包含先天性半侧发育不全伴鱼鳞病样红皮病和肢体缺陷。
Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2. doi: 10.1111/j.1525-1470.2012.01729.x. Epub 2012 Apr 4.
8
Raine syndrome.雷恩综合征
Am J Med Genet. 1998 Jul 24;78(4):382-5. doi: 10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e.
9
[4p deletion syndrome].[4p缺失综合征]
Ryoikibetsu Shokogun Shirizu. 2000(30 Pt 5):309-11.
10
Prenatal detection of congenital hypospadias in the Wolf-Hirschhorn (4p-) syndrome.Wolf-Hirschhorn（4p-）综合征中先天性尿道下裂的产前检测。
Prenat Diagn. 1994 Dec;14(12):1166-9. doi: 10.1002/pd.1970141212.

引用本文的文献

1
Involvement of membrane palmitoylated protein 6 (MPP6) in synapses of mouse cerebrum.膜棕榈酰化蛋白6（MPP6）在小鼠大脑突触中的作用。
Histochem Cell Biol. 2025 May 13;163(1):50. doi: 10.1007/s00418-025-02378-1.
2
The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma.失活的X染色体导致人类胶质母细胞瘤中微胶质细胞炎症活性的性别差异。
bioRxiv. 2024 Jun 6:2024.06.06.597433. doi: 10.1101/2024.06.06.597433.
3
Bleeding Post Constriction Ring Release Surgery Causing Lower Limb Ischemia in an Infant with Undetected Hemophilia B.
缩窄环松解术后出血导致未检测出的B型血友病婴儿下肢缺血
Indian J Plast Surg. 2021 Apr;54(2):218-220. doi: 10.1055/s-0041-1729509. Epub 2021 Jun 10.
4
Not Just Another Scaffolding Protein Family: The Multifaceted MPPs.不只是另一种支架蛋白家族：多面的 MPPs。
Molecules. 2020 Oct 26;25(21):4954. doi: 10.3390/molecules25214954.
5
Ecological divergence in sympatry causes gene misexpression in hybrids.同域生态分歧导致杂种基因表达错误。
Mol Ecol. 2020 Jul;29(14):2707-2721. doi: 10.1111/mec.15512. Epub 2020 Jul 10.
6
Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling.磷酸化修饰蛋白质组学发现新型 EPO 调节激酶和磷酸酶，包括 PTPN18 作为 EPOR/JAK2 信号的正调节剂。
Cell Signal. 2020 May;69:109554. doi: 10.1016/j.cellsig.2020.109554. Epub 2020 Feb 3.