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Updated: Sep 9, 2025

Lentiviral Mediated Gene Silencing in Human Pseudoislet Prepared in Low Attachment Plates
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Lentiviral Mediated Gene Silencing in Human Pseudoislet Prepared in Low Attachment Plates

Published on: May 14, 2019

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PI*S-plus型の新しいSERPINA1ゼロアレル:PI*Q0Tegueste

José María Hernández Pérez1, Ainhoa Escuela-Escobar2, Ruth López Travieso3

  • 1Department of Respiratory Medicine, Complejo Hospitalario Universitario Ntra. Sra. de Candelaria, Tenerife, Spain.

Gene
|September 1, 2025
PubMed
まとめ

新しいアルファ-1抗トリプシン欠乏症 (AATD) アレル,PI*Q0Teguesteが特定されました. このPI*Sプラスヌルアルレは,SERPINA1 mRNAの分解を誘発することによってAATDを引き起こすので,診断において高度なゲノタイプ化の必要性を強調する.

キーワード:
アルファ-1アンチトリプシン欠乏症ハプロタイピングロングシーケンシングゼロアレルPI*S-プラスセルピナ1

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piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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