Gene · 1287
Papers2,056
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
1 to 20 of 2,056
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Functional characterization of genetic variants associated with rare inherited renal disorders in the Sri Lankan population. | Mol Genet Genomics | 2026 | 42814169 | PubTator, text mining | PubMed |
| Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report. | Mol Genet Metab Rep | 2026 | 42774990 | PubTator, text mining | PubMed |
| Exome Sequencing in Patients with Loin Pain Hematuria Syndrome and Persistent Isolated Hematuria. | Kidney Int Rep | 2026 | 42751148 | PubTator, text mining | PubMed |
| Considering Heterozygous Variants in COL4A3, COL4A4, COL4A5: Genetic Features and Clinical Outcomes. | Kidney360 | 2026 | 42658539 | PubTator, text mining | PubMed |
| Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum. | Kidney Int Rep | 2026 | 42614610 | PubTator, text mining | PubMed |
| Pediatric hematuria as a gateway to family genetic investigation in type IV collagen nephropathies: experience from a regional cohort. | J Nephrol | 2026 | 42552945 | PubTator, text mining | PubMed |
| Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025. | Mol Genet Genomic Med | 2026 | 42464065 | PubTator, text mining | PubMed |
| Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome. | Front Med (Lausanne) | 2026 | 42404581 | PubTator, text mining | PubMed |
| Anti-Glomerular Basement Membrane Nephritis Post-Renal Transplant in Alport Syndrome Patients. | Kidney360 | 2026 | 42390934 | PubTator, text mining | PubMed |
| Clinical impact of genetic testing in inherited kidney diseases. | Clin Kidney J | 2026 | 42389199 | PubTator, text mining | PubMed |
| Patient-derived human induced pluripotent stem cell podocytes uncover endoplasmic reticulum and oxidative stress-mediated dysfunction in X-linked Alport syndrome. | Kidney Res Clin Pract | 2026 | 42388071 | PubTator, text mining | PubMed |
| Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family. | Curr Issues Mol Biol | 2026 | 42353593 | PubTator, text mining | PubMed |
| A Case of Autosomal Dominant Alport Syndrome Diagnosed Just Before Discontinuation of Follow-Up. | Pediatr Rep | 2026 | 42347069 | PubTator, text mining | PubMed |
| Whole genome sequencing for CKD of unexplained cause in Hong Kong. | Nephrol Dial Transplant | 2026 | 42329778 | PubTator, text mining | PubMed |
| Transcriptomic profiling of collagen gene expression in lung fibroblasts from patients with idiopathic pulmonary fibrosis. | Sarcoidosis Vasc Diffuse Lung Dis | 2026 | 42329017 | PubTator, text mining | PubMed |
| Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome. | Front Genet | 2026 | 42326388 | PubTator, text mining | PubMed |
| Tractional Retinoschisis: A Subtle and Rare Manifestation of X-Linked Alport Syndrome - A Case Report. | Case Rep Ophthalmol | 2026 | 42318075 | PubTator, text mining | PubMed |
| Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review. | Front Pediatr | 2026 | 42255916 | PubTator, text mining | PubMed |
| mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. | Kidney Int Rep | 2026 | 42254845 | PubTator, text mining | PubMed |
| Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome. | Hum Genomics | 2026 | 42204651 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this list from software.
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