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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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非症候性状 Palmoplantar Keratoderma の家族で識別された双アレル DSG1 スプライスサイト変種

Sohail Ahmed1,2, Nicole Cesarato1, Ye Li1

  • 1Institute of Human Genetics, Medical Faculty and University Hospital Bonn, University of Bonn, Bonn, Germany.

The Journal of dermatology
|August 29, 2025
PubMed
まとめ

私たちは,軽度の遺伝性 Palmoplantar Keratoderma (PPK) を引き起こす Desmoglein 1 (DSG1) 遺伝子の同位体変異を特定しました. この発見は,既知のDSG1関連パルモプランタル表皮分化障害 (pEDDs) を拡大し,遺伝子型-現象型の変動性を強調する.

キーワード:
デスモゲリン 1生物学的多様性エクソームシーケンシングパルモプランター・ケラトダーマスプライシング

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