Anti-KCNH2 Antibody-Induced Long QT Syndrome
Nakamura, Kazufumi +14 more
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ニュウヨウジ トツゼンシ ショウコウグン ニ オケル シンキン サイボウ イオン チャンネル イデンシ イジョウ [PDF]
論文内容要旨学位取得大学:山形大学 ; 報告番号:医博乙第553号 ; 学位の種類: 論文 ; 学位の種別:博士 ...
小田切 徹州
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The mRNA Secondary Structure Impact on Translation of the KCNH2 Channel Protein [PDF]
Marika L. Osterbur +2 more
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Role of KCNH2 potassium channels in the pathogenesis of schizophrenia
Schizophrenia is a devastating mental disorder characterized by hallucinations, delusions, cognitive and behavioural issues. Single nucleotide polymorphisms in the second intron of the KCNH2 gene, significantly associated with the diagnosis of schizophrenia, promote transcription of a truncated Kv11.1 potassium channel isoform, Kv11.1-3.1.
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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance [PDF]
Jaël S. Copier +17 more
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In vivo KCNH2-suppression-replacement gene therapy attenuates the pathogenic phenotype in transgenic rabbits with short QT syndrome type 1 [PDF]
Saranda Nimani +14 more
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Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family [PDF]
Jingyun Dong +14 more
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Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2 [PDF]
Bin Xu +10 more
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KCNH2 polymorphism in MMT Kelantanese Malay patients and QTc value.tab
Muhammad Irfan Muslih AbdulKarim Ibrahim Nasir Mohamad Nurfadhlina Musa Rusli Ismail Zalina Zahari Abdul Jalal
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