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Gene · 4549

Papers1,299

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.Eur J Hum Genet202642773160PubTator, text miningPubMed
Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.Mol Genet Genomic Med202642764263PubTator, text miningPubMed
Novel Variants in Mitochondrial Ribosomal RNA Genes MT-RNR1 and MT-RNR2 Identified in Hereditary Optic Neuropathy Initially Presenting as Normal Tension Glaucoma: A Case Report.Case Rep Ophthalmol202642622002PubTator, text miningPubMed
MT-RNR1 genotype testing for preventing aminoglycoside-mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI-PGx).Br J Clin Pharmacol202642524757PubTator, text miningPubMed
Managing Secondary Findings from Germline Pharmacogenomic Testing.J Pers Med202642506114PubTator, text miningPubMed
A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nat Commun202642401575PubTator, text miningPubMed
Mechanisms, prevention, and management of aminoglycoside-induced hearing loss in neonates and children: a translational review.Front Pharmacol202642358372PubTator, text miningPubMed
Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing.Medicina (Kaunas)202642356053PubTator, text miningPubMed
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clin Genet202642233699PubTator, text miningPubMed
MOTS-c, a mitochondrial-derived peptide, ameliorates lysosomal membrane permeability and improves survival of soft tissue transplantation.Autophagy202642153537PubTator, text miningPubMed
Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program.BMC Med Genomics202642152029PubTator, text miningPubMed
Two Novel Variants in MT-RNR1 Gene Associated with Hereditary Optic Neuropathy: A Case Report.Case Rep Ophthalmol202642077800PubTator, text miningPubMed
Distinct Mutation Signatures in Peripheral Blood Mitochondrial DNA from Liquid Biopsy Reveal Insights into Pancreatic Cancer.Cells202641892318PubTator, text miningPubMed
Analysis of the Expression and Mutation of Several Genes Related to Hearing Loss in Children in Vietnam.Cureus202641890477PubTator, text miningPubMed
Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.J Med Genet202641876127PubTator, text miningPubMed
Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis.bioRxiv202641757086PubTator, text miningPubMed
Mitoepigenetic Alterations in Early-Onset Parkinson's Disease.Int J Mol Sci202641752168PubTator, text miningPubMed
Systematic Examination of Gene Expression and Proteomic Evidence Across Tissues Supports the Role of Mitochondrial Dysregulation in ME/CFS.Int J Mol Sci202641752134PubTator, text miningPubMed
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.Int J Mol Sci202641751913PubTator, text miningPubMed
Comparative Analysis of Methodological Aspects of the Study of Extracellular Vesicles and Extracellular Mitochondria: From Isolation to Internalization.Curr Issues Mol Biol202641751479PubTator, text miningPubMed

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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