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Updated: Sep 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.0K

早期発症のエピレプシーを患った少年からKCNT1にヘテロジゴスR950Qの変異を携えたiPSC線 (FINi102-A)

Dmitry A Ovchinnikov1, Sharon Jong1, Saul Mullen2

  • 1The Florey, University of Melbourne, Melbourne, VIC, Australia.

Stem cell research
|September 5, 2025
PubMed
まとめ

研究者らは,KCNT1遺伝子のエピレプシーを持つ男の子から患者由来誘発性多能幹細胞 (iPSC) ラインを作成しました. この貴重なKCNT1のエピレプシーモデルは,標的治療の開発に役立つ.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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