Functional Validation of Common Idiopathic Pulmonary Fibrosis Genetic Risk Variants

NIAID Data Ecosystem2026-03-14 收录

特发性肺纤维化遗传学

遗传变异功能验证

数据链接：

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE175459 数据链接链接失效反馈

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资源简介：

This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

创建时间：

2022-09-30

Supplementary Material for: A Familial History of Pulmonary Fibrosis in Patients with Chronic Hypersensitivity Pneumonitis

特发性肺纤维化遗传学

慢性过敏性肺炎临床特征

Background: Hypersensitivity pneumonitis (HP) is an immunologically mediated lung disease induced by the inhalation of a variety of antigens. Patients with chronic HP often have a family history of pu

Figshare2017-06-20 更新100

Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer. Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer

特发性肺纤维化遗传学

表观遗传调控与基因表达

This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

NIAID Data Ecosystem60

Fucntional genetic variants mediate their regulatory effects through altered transcription factor binding. [dirRNA-seq]

遗传变异功能验证

转录因子调控

The extensive molecular characterization of the transcriptional regulatory landscape within the LCLs of a 3-generation, 17-member kindred was performed to allow for the identification of functional va

NIAID Data Ecosystem60

Effects of genetic variants in the TSPO gene on protein structure and stability

蛋白质稳定性

遗传变异功能验证

The 18 kDa translocator protein (TSPO) is an evolutionary conserved cholesterol binding protein localized in the outer mitochondrial membrane. Expression of TSPO is upregulated in activated microglia

NIAID Data Ecosystem70

NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

特发性肺纤维化遗传学

全基因组关联分析

This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare thes

NIAID Data Ecosystem60

Functional Validation of Common Idiopathic Pulmonary Fibrosis Genetic Risk Variants

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