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pmid:31907669

Systems biology approaches toward autosomal dominant polycystic kidney disease (ADPKD).

Ilnaz Rahimmanesh · Razieh Fatehi

Clinical and translational medicine · 2020 doi:10.1186/s40169-019-0254-5

Paper

complete

Experiment

complete

Data

partial

Analysis

partial

Execution

absent

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Record details sci_version · id · kind · revision · content_hash · schema · created_at · updated_at · generator
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pmid:31907669
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science-record
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sha256:54453967e777786731605dbbd63a11527272caaa7adf87157663f02678ce1c89
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created_at
2026-11-01T15:40:54Z
updated_at
2026-11-01T22:01:10Z
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paper object · 10 fields
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title
Systems biology approaches toward autosomal dominant polycystic kidney disease (ADPKD).
doi
10.1186/s40169-019-0254-5
pmid
31907669
authors array · 2 items
[0]
Ilnaz Rahimmanesh
[1]
Razieh Fatehi
journal
Clinical and translational medicine
year
2020
abstract
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), a common of monogenetic disorder caused by the polycystic kidney disease-1 (PKD1) or PKD2 genes deficiency. In this study, we have re-analyzed a microarray dataset to generate a holistic view of this disease. METHODOLOGY: GSE7869, an expression profiling dataset was downloaded from the Gene Expression Omnibus (GEO) database. After quality control assessment, using GEO2R tool of GEO, genes with adjusted p-value ≤ 0.05 were determined as differentially expressed (DE). The expression profiles from ADPKD samples in different sizes were compared. Using CluePedia plugin of Cytoscape software, the protein-protein interaction (PPI) networks were constructed and analyzed by Cytoscape NetworkAnalyzer tool and MCODE application. Pathway enrichment analysis of clustered genes by MCODE with the high centrality parameters in PPI networks was performed using Cytoscape ClueGO plugin. Moreover, by Enrichr database, microRNAs (miRNAs) and transcription factors (TFs) targeted DE genes were identified. RESULTS: In this study to explore the molecular pathogenesis of kidney in ADPKD, mRNA expression profiles of cysts from patients in different sizes were re-analyzed. The comparisons were performed between normal with minimally cystic tissue (MCT) samples, MCTs with small cysts, and small cysts with large cysts. 512, 7024, and 655 DE genes were determined, respectively. The top central genes, e.g. END1, EGFR, and FOXO1 were identified with topology and clustering analysis. DE genes that were significantly enriched in PPI networks are critical genes and their roles in ADPKD remain to be assessed in future experimental studies beside miRNAs and TFs predicted. Furthermore, the functional analysis resulted in which most of them are expected to be associated with ADPKD pathogenesis, such as signal pathways that involved in cell growth, inflammation, and cell polarity. CONCLUSION: We have here explored systematic approaches for molecular mechanisms assay of ADPKD as a monogenic disease, which may also be used for other monogenetic diseases beside complex diseases to provide suitable therapeutic targets.
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Samples of normal tissues (n = 3), minimally cystic tissues (n = 5), small cysts (n = 5), and large cysts (n = 3) were compared based on during the time of disease progression, using Student’s t-test, respectively. Benjamini–Hochberg false discovery rate (FDR) was used for p-value correction.
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sections[3] "Microarray data and DE genes screening" paragraph 2
quote
Samples of normal tissues (n = 3), minimally cystic tissues (n = 5), small cysts (n = 5), and large cysts (n = 3) were compared based on during the time of disease progression, using Student’s t-test, respectively. Benjamini–Hochberg false discovery rate (FDR) was used for p-value correction.
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All data analyzed during this study are included in article and its additional files.
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sections[22] "notes" paragraph 1
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All data analyzed during this study are included in article and its additional files.
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Expression data from renal cysts of autosomal dominant polycystic kidney disease (ADPKD) patients
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Transcription factor enrichment analysis
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miRNAs and TFs enriched with DE gene were determined
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Transcription factor enrichment analysis
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Samples of normal tissues (n = 3), minimally cystic tissues (n = 5), small cysts (n = 5), and large cysts (n = 3) were compared based on during the time of disease progression, using Student’s t-test, respectively. Benjamini–Hochberg false discovery rate (FDR) was used for p-value correction.
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ciency. In this study, we have re-analyzed a microarray dataset to generate a holistic view of this
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Complete file
{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:31907669", "kind": "science-record", "revision": 5, "content_hash": "sha256:54453967e777786731605dbbd63a11527272caaa7adf87157663f02678ce1c89", "created_at": "2026-11-01T15:40:54Z", "updated_at": "2026-11-01T22:01:10Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Systems biology approaches toward autosomal dominant polycystic kidney disease (ADPKD).", "doi": "10.1186/s40169-019-0254-5", "pmid": "31907669", "authors": ["Ilnaz Rahimmanesh", "Razieh Fatehi"], "journal": "Clinical and translational medicine", "year": 2020, "abstract": "BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), a common of monogenetic disorder caused by the polycystic kidney disease-1 (PKD1) or PKD2 genes deficiency. In this study, we have re-analyzed a microarray dataset to generate a holistic view of this disease.\nMETHODOLOGY: GSE7869, an expression profiling dataset was downloaded from the Gene Expression Omnibus (GEO) database. After quality control assessment, using GEO2R tool of GEO, genes with adjusted p-value ≤ 0.05 were determined as differentially expressed (DE). The expression profiles from ADPKD samples in different sizes were compared. Using CluePedia plugin of Cytoscape software, the protein-protein interaction (PPI) networks were constructed and analyzed by Cytoscape NetworkAnalyzer tool and MCODE application. Pathway enrichment analysis of clustered genes by MCODE with the high centrality parameters in PPI networks was performed using Cytoscape ClueGO plugin. Moreover, by Enrichr database, microRNAs (miRNAs) and transcription factors (TFs) targeted DE genes were identified.\nRESULTS: In this study to explore the molecular pathogenesis of kidney in ADPKD, mRNA expression profiles of cysts from patients in different sizes were re-analyzed. The comparisons were performed between normal with minimally cystic tissue (MCT) samples, MCTs with small cysts, and small cysts with large cysts. 512, 7024, and 655 DE genes were determined, respectively. The top central genes, e.g. END1, EGFR, and FOXO1 were identified with topology and clustering analysis. DE genes that were significantly enriched in PPI networks are critical genes and their roles in ADPKD remain to be assessed in future experimental studies beside miRNAs and TFs predicted. Furthermore, the functional analysis resulted in which most of them are expected to be associated with ADPKD pathogenesis, such as signal pathways that involved in cell growth, inflammation, and cell polarity.\nCONCLUSION: We have here explored systematic approaches for molecular mechanisms assay of ADPKD as a monogenic disease, which may also be used for other monogenetic diseases beside complex diseases to provide suitable therapeutic targets.", "claims": [{"id": "claim-method", "statement": "Samples of normal tissues (n = 3), minimally cystic tissues (n = 5), small cysts (n = 5), and large cysts (n = 3) were compared based on during the time of disease progression, using Student’s t-test, respectively. Benjamini–Hochberg false discovery rate (FDR) was used for p-value correction.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:31907669", "locator": "sections[3] \"Microarray data and DE genes screening\" paragraph 2", "quote": "Samples of normal tissues (n = 3), minimally cystic tissues (n = 5), small cysts (n = 5), and large cysts (n = 3) were compared based on during the time of disease progression, using Student’s t-test, respectively. Benjamini–Hochberg false discovery rate (FDR) was used for p-value correction."}], "state": "complete"}, {"id": "claim-data-access", "statement": "All data analyzed during this study are included in article and its additional files.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:31907669", "locator": "sections[22] \"notes\" paragraph 1", "quote": "All data analyzed during this study are included in article and its additional files."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": null, "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:31907669"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE7869"], "outputs": ["the source data with its repository provenance"], "instruments": [], "reagents": []}, {"id": "run_analysis", "order": 3, "name": "Run the published analysis", "kind": "analysis", "state": "complete", "blocked_on": null, "description": "Apply the paper's statistical method to the resolved series and compare the result with the published target.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE7869"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:31907669", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.1186/s40169-019-0254-5", "sha256": "sha256:f94cb8bbe69b3fd389df15b6c7748b791c712f7338b9527e72f5d28f053d68b2", "bytes": 18889, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "10.1186/s40169-019-0254-5", "version": null, "note": "Full article fetched from PMC; the checksum covers the rendered section body, not the original XML bytes.", "structure": {"pmcid": "PMC6944722", "source": "europe_pmc_fulltext", "coverage": "whole_body_without_references", "text_hash_scope": "rendered_section_body"}}, {"id": "data:geo:GSE7869", "role": "raw", "format": "geo-series", "media_type": "application/vnd.ncbi.geo-series+json", "uri": "https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE7869", "sha256": null, "bytes": null, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "GSE7869", "version": null, "note": "All data analyzed during this study are included in article and its additional files.", "structure": {"repository": "GEO", "access_route": "GEO accession URL", "access_statement_verbatim": "All data analyzed during this study are included in article and its additional files.", "access_statement_kind": "data_availability_statement", "sample_accessions": ["GSM190858", "GSM190859", "GSM190860", "GSM190861", "GSM190862", "GSM190863", "GSM190864", "GSM190865", "GSM190866", "GSM190867", "GSM190868", "GSM190869", "GSM190870", "GSM190871", "GSM190872", "GSM190873", "GSM190874", "GSM190875", "GSM190876", "GSM190877", "GSM190878"], "sample_count": 21, "group_sizes": null, "group_sizes_basis": null, "platform": "570", "taxon": "Homo sapiens", "title": "Expression data from renal cysts of autosomal dominant polycystic kidney disease (ADPKD) patients", "resolution_checked_at": "2026-11-01T15:39:55Z", "resolution_check": "identifier_resolution_only_no_download_no_licence_read", "downloaded": false, "licence_read": false}}, {"id": "asset:table:pmid:31907669:1", "role": "table", "format": "jats-table", "media_type": "application/vnd.jats.table+json", "uri": null, "sha256": "sha256:815bde657980debec3a4eeb9de15c372a342c52e1cdbb75358b0a8f788134dc6", "bytes": 2010, "access": "open", "state": "verified", "reader": "read_table", "reader_status": "available", "identifier": "section[9]/table-wrap[1]#Tab1", "version": null, "note": "Top clustered genes in the PPI networks. 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