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.
1 to 20 of 3,802
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
Adrenal Rest Tumors and the clinical course of gonadal dysfunction in adult men with Congenital Adrenal Hyperplasia caused by 21-Hydroxylase Deficiency: A single-center experience with long-term follow-up. | Endocrine | 2026 | 42804041 | PubTator, text mining | PubMed |
| Very-early-onset autosomal dominant polycystic kidney disease coexisting with congenital adrenal hyperplasia in a newborn: a case report. | Child Kidney Dis | 2026 | 42779582 | PubTator, text mining | PubMed |
| The importance of elevated basal 17-hydroxyprogesterone in the diagnosis of children with congenital adrenal hyperplasia. | J Med Biochem | 2026 | 42775055 | PubTator, text mining | PubMed |
| Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD). | J Clin Endocrinol Metab | 2026 | 42773944 | PubTator, text mining | PubMed |
| Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree. | Front Endocrinol (Lausanne) | 2026 | 42729112 | PubTator, text mining | PubMed |
| Long-Read Sequencing Resolves Complex CYP21A2 Variants and Identifies 2+0 Carriers in 21-Hydroxylase Deficiency. | J Mol Diagn | 2026 | 42727689 | PubTator, text mining | PubMed |
| Case Report: unmasking pseudo-homozygosity in CYP21A2: intergenerational gene conversion expansion and the necessity of multimodal genetic testing. | Front Endocrinol (Lausanne) | 2026 | 42682406 | PubTator, text mining | PubMed |
| Clinical and genetic spectrum of classic congenital adrenal hyperplasia due to CYP21A2 mutations in a Taiwanese cohort. | Pediatr Neonatol | 2026 | 42680663 | PubTator, text mining | PubMed |
| A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping. | Curr Issues Mol Biol | 2026 | 42651824 | PubTator, text mining | PubMed |
| Prepubertal Screening for Testicular Adrenal Rest Tumors in Boys with Classic Congenital Adrenal Hyperplasia: Emerging Evidence and Practical Implications. | Children (Basel) | 2026 | 42650343 | PubTator, text mining | PubMed |
| Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia. | Front Genet | 2026 | 42634743 | PubTator, text mining | PubMed |
| Challenges in Prenatal Diagnosis and Therapy of Congenital Adrenal Hyperplasia in India: Balancing the Act. | J Obstet Gynaecol India | 2026 | 42630341 | PubTator, text mining | PubMed |
| Adrenal incidentaloma revealing unrecognized 21-hydroxylase deficiency: From non-classical to late-onset classical forms. | Ann Endocrinol (Paris) | 2026 | 42607996 | PubTator, text mining | PubMed |
| Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency. | J Endocrinol Invest | 2026 | 42606814 | PubTator, text mining | PubMed |
| Pan-CDK and PLK1 inhibitors as a novel approach for targeted treatment of adrenocortical carcinomas. | Eur J Endocrinol | 2026 | 42592842 | PubTator, text mining | PubMed |
| Acute adrenal crisis after orchiectomy for testicular adrenal rest tumors in untreated congenital adrenal hyperplasia. | JCEM Case Rep | 2026 | 42591732 | PubTator, text mining | PubMed |
| Short-Read NGS of a Long-Range CYP21A2 Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing. | Int J Mol Sci | 2026 | 42589592 | PubTator, text mining | PubMed |
| Clinical and genetic characteristics of patients with complete androgen insensitivity syndrome: an experience from a tertiary care centre of Kashmir Valley. | Endocrine | 2026 | 42545618 | PubTator, text mining | PubMed |
| Genotype-refined 17OHP cut-offs diagnosing nonclassical CAH due to 21OH deficiency in children with premature pubarche. | J Endocr Soc | 2026 | 42540306 | PubTator, text mining | PubMed |
| Variant-specific contributions of CYP21A2 and CYP11B1 to the clinical and hormonal heterogeneity of polyendocrine metabolic ovarian syndrome phenotypes. | Mol Biol Rep | 2026 | 42536251 | 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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