関連する実験動画

Updated: Sep 10, 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

9.9K

主要なネガティブなADA2変異は,異卵性キャリアにおいてADA2欠乏を引き起こす

Marjon Wouters1, Lisa Ehlers1,2,3,4,5, Wout Van Eynde6

  • 1Department of Microbiology, Laboratory Inborn Errors of Immunity, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

The Journal of experimental medicine
|August 27, 2025
PubMed
まとめ

単一の病原性 ADA2 遺伝子変異を持つ個人は DADA2 を発症する可能性があります. 免疫不全のリスクを高める 主要な悪影響を引き起こす可能性があります.

さらに関連する動画

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.0K

関連する概念動画

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.
25.4K
Pedigree Analysis01:35

Pedigree Analysis

Overview
85.1K
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.7K
Genetic Lingo01:11

Genetic Lingo

Overview
104.5K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.0K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
34.8K