相关实验视频

Updated: Jul 1, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K

莫瓦特-威尔逊综合征:ZEB2基因变异类型,蛋白质缺陷和分子相互作用的病例报告和审查

Caroline St Peter1, Waheeda A Hossain1, Scott Lovell2

  • 1Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA.

International journal of molecular sciences
|March 13, 2024
PubMed
概括

莫瓦特-威尔逊综合征 (MWS) 是一种罕见的遗传疾病,由ZEB2基因缺陷引起. 异构8突变是最常见的,影响关键的蛋白质域和胚胎发育.

关键词:
莫瓦特威尔逊综合征 (MWS) 是一种ZEB2 功能分子相互作用ZEB2基因变体的变体ZEB2 蛋白质域和缺陷案例报告案例报告审查 审查 审查 审查 审查 审查

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K
Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo10:10

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo

Published on: July 15, 2016

12.1K

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K