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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

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複合的な遺伝的要素の下での低プラスティックアメロゲネシスインパーフェクトにおける家族内型変異:家族報告,全エクソーム配列化,および文献レビュー

Célia Regina Moreira Lanza1,2, Artur Melo Rodrigues3, Iasmin Fonseca Tolentino Mascarenhas1

  • 1Universidade Federal de Minas Gerais, Faculdade de Odontologia, Departamento de Cirurgia Clínica e Patologia, Belo Horizonte, MG, Brasil.

Journal of applied oral science : revista FOB
|September 3, 2025
PubMed
まとめ

この研究は,発達のエナメル障害であるアメロゲネシス・インパーフェクト (AI) と関連した6つの遺伝子の新しい変異を特定した. 影響を受けた家族間の現象的変異性は,追加の遺伝的または環境的要因がAI発現に影響することを示唆しています.

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