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.
141 to 160 of 2,056
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study. | Clin Exp Otorhinolaryngol | 2025 | 39948052 | PubTator, text mining | PubMed |
| Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review. | Mol Genet Genomic Med | 2025 | 39924725 | PubTator, text mining | PubMed |
| A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression. | Mol Syndromol | 2025 | 39911173 | PubTator, text mining | PubMed |
| A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5. | Pediatr Nephrol | 2025 | 39907758 | PubTator, text mining | PubMed |
| [Clinical and genetic features of persistent asymptomatic microscopic hematuria in children]. | Zhonghua Er Ke Za Zhi | 2025 | 39844494 | PubTator, text mining | PubMed |
| VAMP8 as a biomarker and potential therapeutic target for endothelial cell dysfunction in atherosclerosis. | Gene | 2025 | 39800194 | PubTator, text mining | PubMed |
| Challenging the narrative of Alport syndrome spectrum: no link with cystic phenotype. | Nephrol Dial Transplant | 2025 | 39694697 | PubTator, text mining | PubMed |
| Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants. | J Am Soc Nephrol | 2025 | 39625784 | PubTator, text mining | PubMed |
| Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome. | Gene | 2025 | 39615805 | PubTator, text mining | PubMed |
| Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin. | Nephrol Dial Transplant | 2025 | 39562282 | PubTator, text mining | PubMed |
| Renal transplantation in Alport syndrome. | Kidney Res Clin Pract | 2025 | 39558650 | PubTator, text mining | PubMed |
| Alport syndrome: Expanding diagnosis and treatment. | Pediatr Neonatol | 2025 | 39521677 | PubTator, text mining | PubMed |
| Dyspnea and nocturnal cough due to esophageal diffuse leiomyomatosis in a girl with hematuria. | Pediatr Pulmonol | 2025 | 39441037 | PubTator, text mining | PubMed |
| Pathological diagnosis of Alport syndrome. | Kidney Res Clin Pract | 2025 | 39384359 | PubTator, text mining | PubMed |
| A comprehensive review of Alport syndrome: definition, pathophysiology, clinical manifestations, and diagnostic considerations. | Kidney Res Clin Pract | 2025 | 39384344 | PubTator, text mining | PubMed |
| Detection of Alport gene variants in children and young people with persistent haematuria. | Pediatr Nephrol | 2025 | 39349776 | PubTator, text mining | PubMed |
| Spectrum of Alport syndrome in an Indian cohort. | Pediatr Nephrol | 2025 | 39278986 | PubTator, text mining | PubMed |
| Genetic study of Alport syndrome in Tunisia. | Pediatr Nephrol | 2025 | 39138691 | PubTator, text mining | PubMed |
| Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience. | Front Pediatr | 2024 | 39764162 | PubTator, text mining | PubMed |
| Personalized Antifibrotic Therapy in CKD Progression. | J Pers Med | 2024 | 39728054 | 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
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