相关实验视频

Updated: Jun 25, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K

超移动埃勒斯-丹洛斯综合征中的表型和多病态性

Taylor Petrucci1, S Jade Barclay2, Cortney Gensemer1,3

  • 1Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC.

Mayo Clinic proceedings. Innovations, quality & outcomes
|May 23, 2024
PubMed
概括

这项关于高移动性埃勒斯-丹洛斯综合征 (hEDS) 的研究确定了三个不同的患者群体,揭示了Beighton评分对于多病态表型化是不可靠的,并突出了对综合护理的需求.

更多相关视频

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.3K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.3K

相关概念视频

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
34.2K
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
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.5K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.2K
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
65.7K
Dissociative Identity Disorder01:30

Dissociative Identity Disorder

Dissociative Identity Disorder (DID), previously termed multiple personality disorder, is a complex psychological condition characterized by the presence of two or more distinct identities or personality states. Each identity exhibits unique patterns of behavior, voice, and mannerisms and may possess separate memories and emotional responses. The alternating control between identities can result in memory gaps and challenges in recalling daily activities, often exacerbating the individual's...
65