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Links from GEO DataSets

Items: 11

1.

The MUC5B IPF risk variant promotes a distal airway secretory phenotype and loss of alveolar markers

(Submitter supplied) The dominant risk factor for the development of idiopathic pulmonary fibrosis (IPF) is a common variant in the promoter region of the airway mucin MUC5B, variant rs35705950. The MUC5B promoter variant enhances MUC5B expression in the terminal respiratory bronchiole, where it is normally absent. We pursued a spatial gene expression approach to understand how the MUC5B variant influences IPF in age-matched unaffected and IPF lung tissue specimens.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL24676
310 Samples
Download data: DCC, TXT
Series
Accession:
GSE267521
ID:
200267521
2.

Molecular phenotyping of the idiopathic interstitial pneumonias identifies two Subtypes of idiopathic pulmonary fibrosis.

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
synthetic construct; Homo sapiens
Type:
Expression profiling by array; Non-coding RNA profiling by array
Platforms:
GPL6244 GPL8786
409 Samples
Download data: CEL
Series
Accession:
GSE32539
ID:
200032539
3.

Molecular phenotyping of the idiopathic interstitial pneumonias [miRNA]

(Submitter supplied) Rationale: The fibrosing idiopathic interstitial pneumonias (IIPs) are classified based on clinical, radiographic, and pathologic criteria. The separation into phenotypic subgroups is useful in predicting outcome and therapeutic strategy; however a large degree of ambiguity remains. Gene expression profiling may contribute to traditional criteria in IIPs by characterizing the dynamic biology that more accurately distinguishes subtypes of these diseases or their prognoses. more...
Organism:
synthetic construct; Homo sapiens
Type:
Non-coding RNA profiling by array
Platform:
GPL8786
192 Samples
Download data: CEL
Series
Accession:
GSE32538
ID:
200032538
4.

Molecular phenotyping of the idiopathic interstitial pneumonias [mRNA]

(Submitter supplied) Rationale: The fibrosing idiopathic interstitial pneumonias (IIPs) are classified based on clinical, radiographic, and pathologic criteria. The separation into phenotypic subgroups is useful in predicting outcome and therapeutic strategy; however a large degree of ambiguity remains. Gene expression profiling may contribute to traditional criteria in IIPs by characterizing the dynamic biology that more accurately distinguishes subtypes of these diseases or their prognoses. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL6244
217 Samples
Download data: CEL
Series
Accession:
GSE32537
ID:
200032537
5.

The IPF-associated variant in MUC5B, rs35705950, resides within an enhancer that is subject to lineage- and disease-dependent epigenetic remodeling

(Submitter supplied) Genetic polymorphisms account for over 30% of the risk for sporadic pulmonary fibrosis. Yet it remains unknown how the minor variant of rs35705950, the strongest driver of IPF genetic risk, mediates molecular changes to influence IPF development. In the parent publication we use chromatin immunoprecipitation, nuclease sensitivity, nascent transcript analysis, bulk RNA- and ATAC-seq from established cell lines, and finally, paired single-nucleus RNA- and ATAC-seq from IPF patients and controls to demonstrate that the variant rs35705950 resides within a classically defined enhancer of the MUC5B locus.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing
Platforms:
GPL20301 GPL18573
8 Samples
Download data: BED, MTX, RDS, TBI, TSV
Series
Accession:
GSE161685
ID:
200161685
6.

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

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome binding/occupancy profiling by high throughput sequencing; Other; Expression profiling by high throughput sequencing
Platforms:
GPL18573 GPL20301
24 Samples
Download data: BED, BEDGRAPH, MTX, TBI, TSV
Series
Accession:
GSE157691
ID:
200157691
7.

Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer (ATAC-seq)

(Submitter supplied) The G/T transversion, rs35705950, located approximately 3 kb upstream of the MUC5B start site, is the cardinal risk factor for IPF. Here, we investigate the function and chromatin structure of this -3 kb region and provide evidence that it functions as a classically defined enhancer subject to epigenetic programming. We use nascent transcript analysis to show that RNA polymerase II loads within 10 bp of the G/T transversion site, definitively establishing enhancer function for the region. more...
Organism:
Homo sapiens
Type:
Genome binding/occupancy profiling by high throughput sequencing
Platform:
GPL18573
10 Samples
Download data: BEDGRAPH
Series
Accession:
GSE157606
ID:
200157606
8.

Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer (PRO-seq)

(Submitter supplied) The G/T transversion, rs35705950, located approximately 3 kb upstream of the MUC5B start site, is the cardinal risk factor for IPF. Here, we investigate the function and chromatin structure of this -3 kb region and provide evidence that it functions as a classically defined enhancer subject to epigenetic programming. We use nascent transcript analysis to show that RNA polymerase II loads within 10 bp of the G/T transversion site, definitively establishing enhancer function for the region. more...
Organism:
Homo sapiens
Type:
Other
Platform:
GPL18573
6 Samples
Download data: BEDGRAPH
9.

Functional Validation of Common Idiopathic Pulmonary Fibrosis Genetic Risk Variants

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Methylation profiling by genome tiling array
Platforms:
GPL21145 GPL24676
969 Samples
Download data: IDAT
Series
Accession:
GSE175459
ID:
200175459
10.

Functional Validation of Common Idiopathic Pulmonary Fibrosis Genetic Risk Variants [850k methylation arrays]

(Submitter supplied) Rationale: To identify functionally relevant common genetic risk variants associated with idiopathic pulmonary fibrosis (IPF), we performed expression quantitative trait loci (eQTL) and methylation quantitative trait loci (mQTL) mapping, followed by co-localization of eQTL and mQTL with genetic association signals as well as mediation analysis. Methods: Illumina MEGA genotyping arrays, mRNA sequencing, and Illumina 850k methylation arrays were performed on lung tissue of participants with IPF (234 RNA and 345 DNA samples) and non-diseased control (188 RNA and 202 DNA samples). more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
547 Samples
Download data: CSV, IDAT
Series
Accession:
GSE175458
ID:
200175458
11.

Functional Validation of Common Idiopathic Pulmonary Fibrosis Genetic Risk Variants [mRNA sequencing]

(Submitter supplied) Rationale: To identify functionally relevant common genetic risk variants associated with idiopathic pulmonary fibrosis (IPF), we performed expression quantitative trait loci (eQTL) and methylation quantitative trait loci (mQTL) mapping, followed by co-localization of eQTL and mQTL with genetic association signals as well as mediation analysis. Methods: Illumina MEGA genotyping arrays, mRNA sequencing, and Illumina 850k methylation arrays were performed on lung tissue of participants with IPF (234 RNA and 345 DNA samples) and non-diseased control (188 RNA and 202 DNA samples). more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL24676
422 Samples
Download data: TXT
Series
Accession:
GSE175457
ID:
200175457
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