Gene · 5314
Papers1,363
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 1,363
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. | Case Rep Obstet Gynecol | 2026 | 42732372 | PubTator, text mining | PubMed |
| The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease. | Am J Med Genet A | 2026 | 42702893 | PubTator, text mining | PubMed |
| Structural and diagnostic implications of exonic splice-disrupting variants in PKHD1-related Caroli disease. | Gene | 2026 | 42697289 | PubTator, text mining | PubMed |
| Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance. | Diagnostics (Basel) | 2026 | 42587573 | PubTator, text mining | PubMed |
| Enhancer collapse dictates PKHD1 silencing and centrosome-mediated chromosomal instability and metastasis in clear cell renal cell carcinoma. | Exp Cell Res | 2026 | 42586231 | PubTator, text mining | PubMed |
| A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease. | Gene | 2026 | 42551719 | PubTator, text mining | PubMed |
| Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma. | BMC Cancer | 2026 | 42374265 | PubTator, text mining | PubMed |
| Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation. | Dig Dis Sci | 2026 | 42365546 | PubTator, text mining | PubMed |
| Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. | Children (Basel) | 2026 | 42353922 | PubTator, text mining | PubMed |
| Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience. | Pediatr Nephrol | 2026 | 42313208 | PubTator, text mining | PubMed |
| Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD. | BMC Nephrol | 2026 | 42286521 | PubTator, text mining | PubMed |
| P-STAT3-dependent SPP1 transcription in cholangiocytes drives hepatic stellate cells activation in congenital hepatic fibrosis. | Commun Biol | 2026 | 42265280 | PubTator, text mining | PubMed |
| Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults. | Front Pediatr | 2026 | 42232620 | PubTator, text mining | PubMed |
| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome. | Ophthalmic Genet | 2026 | 42185784 | PubTator, text mining | PubMed |
| Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses. | Sci Rep | 2026 | 42141127 | PubTator, text mining | PubMed |
| Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing. | Sci Rep | 2026 | 42141097 | PubTator, text mining | PubMed |
| Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing. | Mol Biol Rep | 2026 | 42132966 | PubTator, text mining | PubMed |
| Integrating Weighted Gene Co-Expression Network and Differential Expression Analyses to Unveil the Role of RNA m6A Methylation Regulators in Idiopathic Parkinson's Disease in Latin America. | Life (Basel) | 2026 | 42073402 | PubTator, text mining | PubMed |
| Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study. | iScience | 2026 | 42058895 | PubTator, text mining | PubMed |
| Rab8 and TNPO1 function as the ciliary transport adapters for GPCRs. | J Biol Chem | 2026 | 42036045 | 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.
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