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肺动脉高压中一种新的错义变异

A Novel Missense Variant of in Pulmonary Arterial Hypertension.

作者信息

Asano Ryotaro, Okazawa Makoto, Ishibashi Tomohiko, Ding Xin, Ohta-Ogo Keiko, Akaki Kotaro, Umeki-Mizushima Saori, Yamagishi Akiko, Inagaki Tadakatsu, Yaku Ai, Fujisaki Shinya, Kiko Takatoyo, Hatakeyama Kinta, Takeuchi Osamu, Ogo Takeshi, Nakaoka Yoshikazu

机构信息

Department of Vascular Physiology, National Cerebral and Cardiovascular Center Research Institute Osaka Japan.

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center Hospital Osaka Japan.

出版信息

Circ Rep. 2025 Jan 31;7(3):207-211. doi: 10.1253/circrep.CR-25-0007. eCollection 2025 Mar 10.

DOI:10.1253/circrep.CR-25-0007
PMID:40066211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11890303/
Abstract

BACKGROUND

Because Regnase-1, encoded by , suppresses the development of pulmonary arterial hypertension (PAH) by controlling pro-inflammatory cytokines, we aimed to identify variants in patients with PAH.

METHODS AND RESULTS

We analyzed whole-genome sequence data of patients with PAH to search for disease-associated variants. The Regnase-1 p.D426G variant was identified in 2 patients, 1 of whom presented with prominent infiltration of inflammatory cells in the lung. The protein level of the variant was decreased in vitro.

CONCLUSIONS

We identified a novel missense variant of that is directly involved in regulating inflammation in patients with PAH.

摘要

背景

由于由[具体基因名称]编码的Regnase-1通过控制促炎细胞因子来抑制肺动脉高压（PAH）的发展，我们旨在鉴定PAH患者中的[基因名称]变体。

方法与结果

我们分析了PAH患者的全基因组序列数据，以寻找与疾病相关的[基因名称]变体。在2例患者中鉴定出Regnase-1 p.D426G变体，其中1例患者肺部有明显的炎症细胞浸润。该变体的蛋白质水平在体外降低。

结论

我们鉴定出一种新的[基因名称]错义变体，它直接参与调节PAH患者的炎症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/9e9100192129/circrep-7-207-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/ad95f1fc0441/circrep-7-207-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/141514cd97ce/circrep-7-207-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/9e9100192129/circrep-7-207-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/ad95f1fc0441/circrep-7-207-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/141514cd97ce/circrep-7-207-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5af2/11890303/9e9100192129/circrep-7-207-g003.jpg

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