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Aberrant Splicing in in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease.

作者信息

Yoon Soo-Young, Kim Jin Sug, Park Kyung Sun

机构信息

Division of Nephrology, Department of Internal Medicine, Kyung Hee University College of Medicine, Kyung Hee University Medical Center, Seoul, Korea.

Department of Laboratory Medicine, Kyung Hee University College of Medicine, Kyung Hee University Medical Center, Seoul, Korea.

出版信息

Ann Lab Med. 2024 Nov 1;44(6):621-624. doi: 10.3343/alm.2024.0221. Epub 2024 Aug 22.

DOI:10.3343/alm.2024.0221
PMID:39169606
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11375193/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9927/11375193/05c0a9c47634/alm-44-6-621-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9927/11375193/3a52dc0525ab/alm-44-6-621-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9927/11375193/05c0a9c47634/alm-44-6-621-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9927/11375193/3a52dc0525ab/alm-44-6-621-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9927/11375193/05c0a9c47634/alm-44-6-621-f2.jpg

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本文引用的文献

1
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.ClinGen 使用 PP1/BS4 共分离和 PP4 表型特异性标准对序列变异致病性分类的指导。
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Ann Lab Med. 2024 Mar 1;44(2):188-191. doi: 10.3343/alm.2023.0163. Epub 2023 Oct 16.
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UCSF ChimeraX: Tools for structure building and analysis.
UCSF ChimeraX：结构构建和分析工具。
Protein Sci. 2023 Nov;32(11):e4792. doi: 10.1002/pro.4792.
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.使用 ACMG/AMP 框架捕捉与预测和观察到的剪接影响相关的证据：ClinGen SVI 剪接小组的建议。
Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22.
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How to Estimate Kidney Growth in Patients with Autosomal Dominant Polycystic Kidney Disease.如何评估常染色体显性多囊肾病患者的肾脏生长情况。
J Am Soc Nephrol. 2023 Jun 1;34(6):944-950. doi: 10.1681/ASN.0000000000000130. Epub 2023 Mar 30.
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Highly accurate protein structure prediction with AlphaFold.利用 AlphaFold 进行高精度蛋白质结构预测。
Nature. 2021 Aug;596(7873):583-589. doi: 10.1038/s41586-021-03819-2. Epub 2021 Jul 15.
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Escape from nonsense-mediated decay associates with anti-tumor immunogenicity.逃避免疫原性降解与抗肿瘤免疫原性有关。
Nat Commun. 2020 Jul 30;11(1):3800. doi: 10.1038/s41467-020-17526-5.
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Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.常染色体显性遗传性多囊肾病的遗传学研究进展
Clin J Am Soc Nephrol. 2021 May 8;16(5):790-799. doi: 10.2215/CJN.02320220. Epub 2020 Jul 20.
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Predicting Splicing from Primary Sequence with Deep Learning.深度学习预测剪接。
Cell. 2019 Jan 24;176(3):535-548.e24. doi: 10.1016/j.cell.2018.12.015. Epub 2019 Jan 17.
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The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.脂质纳米盘多囊肾病通道PKD2的结构
Cell. 2016 Oct 20;167(3):763-773.e11. doi: 10.1016/j.cell.2016.09.048.