Gene · 410
Papers2,331
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
121 to 140 of 2,331
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy. | Neuromolecular Med | 2023 | 37682448 | PubTator, text mining | PubMed |
| Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy. | Mol Ther | 2023 | 37644722 | PubTator, text mining | PubMed |
| A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel. | Orphanet J Rare Dis | 2023 | 37644601 | PubTator, text mining | PubMed |
| Multi-omics analysis of fecal samples in colorectal cancer Egyptians patients: a pilot study. | BMC Microbiol | 2023 | 37644393 | PubTator, text mining | PubMed |
| Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis. | Int J Mol Sci | 2023 | 37628828 | PubTator, text mining | PubMed |
| High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. | Neurogenetics | 2023 | 37597066 | PubTator, text mining | PubMed |
| [Corrigendum] The tetraspanin CD151‑ARSA mutant inhibits angiogenesis via the YRSL sequence. | Mol Med Rep | 2023 | 37594051 | PubTator, text mining | PubMed |
| Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions. | Front Neurol | 2023 | 37564735 | PubTator, text mining | PubMed |
| Rhizospheric bacteria: the key to sustainable heavy metal detoxification strategies. | Front Microbiol | 2023 | 37555069 | PubTator, text mining | PubMed |
| Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders. | Indian J Med Res | 2023 | 37530313 | PubTator, text mining | PubMed |
| Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders. | Mol Genet Genomic Med | 2023 | 37489029 | PubTator, text mining | PubMed |
| Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations. | Front Pediatr | 2023 | 37484777 | PubTator, text mining | PubMed |
| Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix. | Genome Biol | 2023 | 37480112 | PubTator, text mining | PubMed |
| New Insights into the Plutella xylostella Detoxifying Enzymes: Sequence Evolution, Structural Similarity, Functional Diversity, and Application Prospects of Glucosinolate Sulfatases. | J Agric Food Chem | 2023 | 37462091 | PubTator, text mining | PubMed |
| Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study. | J Patient Rep Outcomes | 2023 | 37458805 | PubTator, text mining | PubMed |
| In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population. | Cureus | 2023 | 37456470 | PubTator, text mining | PubMed |
| Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system. | Commun Biol | 2023 | 37454237 | PubTator, text mining | PubMed |
| Structural insights into pink-eyed dilution protein (Oca2). | Biosci Rep | 2023 | 37431738 | PubTator, text mining | PubMed |
| Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). | Bioimpacts | 2023 | 37431483 | PubTator, text mining | PubMed |
| Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India. | JIMD Rep | 2023 | 37404680 | 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
Read this list from software.
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