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Gene · 2548

Papers2,709

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

321 to 340 of 2,709

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TitleJournalYearPMIDFound bySource
Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.Int J Endocrinol202337287601PubTator, text miningPubMed
Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.Mol Genet Metab202337285781PubTator, text miningPubMed
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Mol Genet Metab Rep202337275682PubTator, text miningPubMed
Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.Front Neurol202337265469PubTator, text miningPubMed
Study on the Mechanism of Naoxintong in the Treatment of Cerebral Ischemia-Reperfusion Injury Based on a Multiomics Method.Rejuvenation Res202337261991PubTator, text miningPubMed
Multi-omic approach characterises the neuroprotective role of retromer in regulating lysosomal health.Nat Commun202337248224PubTator, text miningPubMed
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.Int J Mol Sci202337239976PubTator, text miningPubMed
Metabolic Myopathies in the Era of Next-Generation Sequencing.Genes (Basel)202337239314PubTator, text miningPubMed
Abnormal glycosylation in glioma: related changes in biology, biomarkers and targeted therapy.Biomark Res202337231524PubTator, text miningPubMed
Non-invasive diagnostic potential of salivary miR-25-3p for periodontal disease and osteoporosis among a cohort of elderly patients with type 2 diabetes mellitus.BMC Oral Health202337221590PubTator, text miningPubMed
Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers.Nucleic Acids Res202337216608PubTator, text miningPubMed
[Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].Zhonghua Yi Xue Yi Chuan Xue Za Zhi202337212008PubTator, text miningPubMed
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].Zhonghua Yi Xue Yi Chuan Xue Za Zhi202337211996PubTator, text miningPubMed
Characteristic of molecular subtype based on lysosome-associated genes reveals clinical prognosis and immune infiltration of gastric cancer.Front Oncol202337197421PubTator, text miningPubMed
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.Sci Rep202337188686PubTator, text miningPubMed
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).Curr Issues Mol Biol202337185710PubTator, text miningPubMed
Cipaglucosidase Alfa: First Approval.Drugs202337184753PubTator, text miningPubMed
Role of non-coding variants in cardiovascular disease.J Cell Mol Med202337183561PubTator, text miningPubMed
Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis.Nat Commun202337179348PubTator, text miningPubMed
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.Stem Cell Res202337167752PubTator, 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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