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The lack of homozygotes with a large deletion encompassing and in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein.

作者信息

Rabiasz Alicja, Drobna-Śledzińska Monika, Kaźmierczak Patrycja, Witt Michał, Ziętkiewicz Ewa

机构信息

Institute of Human Genetics, Polish Academy of Sciences, Poznań 60-479, Poland.

出版信息

Genes Dis. 2025 Jan 20;12(6):101535. doi: 10.1016/j.gendis.2025.101535. eCollection 2025 Nov.

DOI:10.1016/j.gendis.2025.101535
PMID:40746734
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12311433/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d2/12311433/24743735b113/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d2/12311433/24743735b113/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d2/12311433/24743735b113/gr1.jpg

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本文引用的文献

1
Identification of key pathways, genes and immune cell infiltration in hypoxia of high-altitude acclimatization meta-analysis and integrated bioinformatics analysis.高原习服低氧状态下关键通路、基因及免疫细胞浸润的鉴定：荟萃分析与综合生物信息学分析
Front Genet. 2023 Mar 24;14:1055372. doi: 10.3389/fgene.2023.1055372. eCollection 2023.
2
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.桑格测序法与新一代测序技术在原发性纤毛运动障碍诊断中的有效结合。
Pediatr Pulmonol. 2016 May;51(5):498-509. doi: 10.1002/ppul.23261. Epub 2015 Jul 30.
3
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
SPAG1 基因突变导致与外、内动力蛋白臂缺陷相关的原发性纤毛运动障碍。
Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.
4
Argonaute-2 regulates the proliferation of adult stem cells in planarian.AGO2蛋白调控涡虫成体干细胞的增殖。
Cell Res. 2011 Dec;21(12):1750-4. doi: 10.1038/cr.2011.151. Epub 2011 Sep 6.
5
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.1A型碳水化合物缺乏糖蛋白综合征中最常见疾病等位基因纯合子的缺失。
Am J Hum Genet. 1998 Mar;62(3):542-50. doi: 10.1086/301763.