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Updated: Sep 9, 2025

Author Spotlight: Advancing Male Infertility Research by Unraveling Sperm Metabolism and Mitochondrial Function
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Published on: June 23, 2023

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男性不妊症の精密診断を進めるための核受容体変種に関する機能的および臨床的洞察

Avinash S Gaikwad1, Margot J Wyrwoll1, Sophie A Koser1

  • 1Institute of Reproductive Genetics, Centre of Medical Genetics, University of Münster, Münster, Germany.

EBioMedicine
|August 29, 2025
PubMed
まとめ

この研究では,不妊男性における核受容体,ステロイド生成因子1 (NR5A1/ SF1) およびアンドロゲン受容体 (AR) の変異を評価した. 臨床データと実験データを組み合わせることで 変種分類が改善され 男性不妊症の診断と治療が容易になりました

キーワード:
ACMG についてアンドロゲン受容体エクソームシーケンシングルシフェラゼ試験核受容体ステロイド誘発因子 1

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