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Lethal Alleles02:41

Lethal Alleles

18.5K
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...
18.5K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

2.7K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
2.7K
Translation01:31

Translation

158.4K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
158.4K
Translation01:31

Translation

19.6K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
19.6K

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Updated: Feb 28, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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新規二アレル性LIG3変異による免疫不全を伴う致死性表現型の原因究明

Gonench Kilich1, Tanaya Jadhav2, Kelly Maurer1

  • 1Division of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American journal of medical genetics. Part A
|February 25, 2026
PubMed
まとめ

研究者らは、重度の神経学的および発達上の問題を抱える子供において、新規LIG3遺伝子バリアントを特定した。この発見は、既知のLIG3欠損症の表現型を免疫および内分泌系の問題にまで拡大するものである。

キーワード:
LIG3遺伝子ゲノム再解析免疫不全ミトコンドリア病

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