相关实验视频

Updated: Jun 15, 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

在患有古典埃勒斯-丹洛斯综合征的狗中发现了新的COL5A1变体和相关疾病表型

Garrett Bullock1, Jared A Jaffey2, Leah A Cohn3

  • 1Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, Missouri, USA.

Journal of veterinary internal medicine
|August 23, 2024
PubMed
概括

这项研究在患有古典埃勒斯-丹洛斯综合征 (EDS) 的狗中发现了六种新的COL5A1基因变异,揭示了各种临床症状和原异常. 这些发现提高了对犬类EDS预后的理解.

关键词:
皮肤上的喘息.基因型-表型 基因型-表型精准医学是一门精准医学.传输电子显微镜的使用整个基因组测序的测序.

更多相关视频

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

18.7K
Isolation and Culture of Primary Endothelial Cells from Canine Arteries and Veins08:24

Isolation and Culture of Primary Endothelial Cells from Canine Arteries and Veins

Published on: November 18, 2016

11.2K

相关概念视频

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.2K
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,...
40.3K
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
4.9K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
34.1K
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...
4.4K
Genetic Lingo01:11

Genetic Lingo

Overview
102.2K