Gene · 1589
Papers3,802
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
61 to 80 of 3,802
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report | J Clin Res Pediatr Endocrinol | 2026 | 41797552 | PubTator, text mining | PubMed |
| Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report. | Front Endocrinol (Lausanne) | 2026 | 41788783 | PubTator, text mining | PubMed |
| Regulatory roles of bioactive lipids in vascular homeostasis and remodeling. | Med Rev (2021) | 2026 | 41783891 | PubTator, text mining | PubMed |
| P450 engineering via structure-guided rational design achieves high C21-selectivity and bioconversion in steroid biosynthesis. | Synth Syst Biotechnol | 2026 | 41756023 | PubTator, text mining | PubMed |
| Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report. | Horm Res Paediatr | 2026 | 41746871 | PubTator, text mining | PubMed |
| Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia. | Front Endocrinol (Lausanne) | 2026 | 41727684 | PubTator, text mining | PubMed |
| A Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary Syndrome. | J Obstet Gynaecol Res | 2026 | 41724575 | PubTator, text mining | PubMed |
| Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases. | Front Pediatr | 2026 | 41716702 | PubTator, text mining | PubMed |
| A functional ancestry-linked regulatory haplotype influences CYP2D6 expression. | Pharmacogenomics J | 2026 | 41702878 | PubTator, text mining | PubMed |
| MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. | J Transl Med | 2026 | 41691275 | PubTator, text mining | PubMed |
| Semi-automated genomic newborn screening highlights complexities in reporting. | NPJ Genom Med | 2026 | 41667506 | PubTator, text mining | PubMed |
| Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus. | Cureus | 2026 | 41658697 | PubTator, text mining | PubMed |
| Aldosterone: Synthesis and regulation. | Vitam Horm | 2026 | 41638796 | PubTator, text mining | PubMed |
| Neurofibromatosis type I -related severe aplastic anemia: an unusual association with a complicated bone marrow transplantation course. | Ann Hematol | 2026 | 41636903 | PubTator, text mining | PubMed |
| Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency. | Diagnostics (Basel) | 2026 | 41594178 | PubTator, text mining | PubMed |
| Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. | Eur J Hum Genet | 2026 | 41571809 | PubTator, text mining | PubMed |
| Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. | Orphanet J Rare Dis | 2026 | 41527137 | PubTator, text mining | PubMed |
| SDrecall: a sensitive approach for variant detection in segmental duplications. | Genome Biol | 2026 | 41526966 | PubTator, text mining | PubMed |
| Evaluation of Muscle Mass and Strength in Children and Adolescents with Disorders of Sex Development. | J Clin Res Pediatr Endocrinol | 2026 | 41498263 | PubTator, text mining | PubMed |
| Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. | J Enzyme Inhib Med Chem | 2026 | 41495987 | 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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