{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T15:10:16Z","timestamp":1782745816915,"version":"3.54.5"},"reference-count":42,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"framework of state assignment","award":["123020800102-9"],"award-info":[{"award-number":["123020800102-9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by fragile skin that blisters easily. Targeted therapies for EB necessitate personalized approaches, underscoring the importance of precise diagnostics through genetic analysis and skin biopsy using transmission electron microscopy and\/or immunohistochemistry. This study highlights the application of whole-exome sequencing (WES) to identify key pathogenic variants associated with EB. Most identified variants were associated with the recessive form of dystrophic EB, including four novel COL7A1 mutations: p.Leu1488ArgfsTer222, c.7759-3C&gt;G, p.Gln1886Ter, and c.6501+6T&gt;C, as well as recurrent variants p.Lys142Arg and p.Gly2049Glu. Additionally, variants were detected in KRT5 (c.971T&gt;C, p.Val324Ala), associated with EB simplex, and in LAMB3 (c.2500C&gt;T, p.Gln834Ter) in the homozygous state, associated with junctional EB. In silico splice prediction tools suggested disrupted splicing in both cases. One patient received topical gentamicin therapy targeting the nonsense mutation p.Gln1886Ter. These findings underscore the utility of WES in EB diagnostics, broaden the mutation spectrum, and contribute to the understanding of genotype\u2013phenotype correlations in adult patients with EB.<\/jats:p>","DOI":"10.3390\/ijms26125762","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T10:47:22Z","timestamp":1750070842000},"page":"5762","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7894-9222","authenticated-orcid":false,"given":"Anastasiia A.","family":"Buianova","sequence":"first","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6238-581X","authenticated-orcid":false,"given":"Anastasia S.","family":"Yagizarova","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2908-6499","authenticated-orcid":false,"given":"Anastasiya V.","family":"Kosykh","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"},{"name":"V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare, 4, Oparin St., Moscow 117198, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey A.","family":"Kubanov","sequence":"additional","affiliation":[{"name":"State Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5930-1965","authenticated-orcid":false,"given":"Vera A.","family":"Belova","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5256-0892","authenticated-orcid":false,"given":"Anna O.","family":"Shmitko","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3805-8489","authenticated-orcid":false,"given":"Arfenya E.","family":"Karamova","sequence":"additional","affiliation":[{"name":"State Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5594-1455","authenticated-orcid":false,"given":"Aleksandra A.","family":"Martynova","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"},{"name":"V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare, 4, Oparin St., Moscow 117198, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grigoriy S.","family":"Podmoskovnikov","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Nefedova","sequence":"additional","affiliation":[{"name":"State Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina S.","family":"Monchakovskaya","sequence":"additional","affiliation":[{"name":"State Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1343-2550","authenticated-orcid":false,"given":"Dmitriy O.","family":"Korostin","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8028-8176","authenticated-orcid":false,"given":"Nadya G.","family":"Gurskaya","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"},{"name":"V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare, 4, Oparin St., Moscow 117198, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1884-1807","authenticated-orcid":false,"given":"Denis V.","family":"Rebrikov","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia"},{"name":"V.I. 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Med., 10.","DOI":"10.3389\/fmed.2023.1218404"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1046\/j.1523-1747.1999.00709.x","article-title":"Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations","volume":"113","author":"McGrath","year":"1999","journal-title":"J. Investig. Dermatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1111\/j.1365-2133.2008.08801.x","article-title":"Weber-Cockayne Type of Epidermolysis Bullosa Simplex Associated with a Novel Mutation in Keratin 5 and Amyloid Deposits","volume":"159","author":"Chiang","year":"2008","journal-title":"Br. J. Dermatol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1111\/j.1365-2133.2005.06542.x","article-title":"High Frequency of the 425AG Splice-Site Mutation and Novel Mutations of the COL7A1 Gene in Central Europe: Significance for Future Mutation Detection Strategies in Dystrophic Epidermolysis Bullosa","volume":"152","author":"Csikos","year":"2005","journal-title":"Br. J. Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1111\/j.1365-2133.2009.09333.x","article-title":"Forty-Two Novel COL7A1 Mutations and the Role of a Frequent Single Nucleotide Polymorphism in the MMP1 Promoter in Modulation of Disease Severity in a Large European Dystrophic Epidermolysis Bullosa Cohort","volume":"161","author":"Kern","year":"2009","journal-title":"Br. J. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1111\/bjd.14370","article-title":"Ten Years of DNA Diagnostics of Epidermolysis Bullosa in the Czech Republic","volume":"174","year":"2016","journal-title":"Br. J. Dermatol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/jdv.13953","article-title":"The Epidermolysis Bullosa Disease Activity and Scarring Index ( EBDASI ): Grading Disease Severity and Assessing Responsiveness to Clinical Change in Epidermolysis Bullosa","volume":"31","author":"Jain","year":"2017","journal-title":"Acad. Dermatol. Venereol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1093\/bjd\/ljae063","article-title":"Intravenous Gentamicin Therapy Induces Functional Type VII Collagen in Patients with Recessive Dystrophic Epidermolysis Bullosa: An Open-Label Clinical Trial","volume":"191","author":"Woodley","year":"2024","journal-title":"Br. J. Dermatol."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Gupta, D., Jayashankar, C., Srinivas, M., Baraka Vishwanathan, G., Reddy, K.R., Kubba, A., Batrani, M., and Hiremagalore, R. (2023). Clinical and Allelic Heterogeneity in Dystrophic Epidermolysis Bullosa- Lessons from an Indian Cohort. PLoS ONE, 18.","DOI":"10.1371\/journal.pone.0289558"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1006\/bbrc.1998.8180","article-title":"Compound Heterozygosity for an Out-of-Frame Deletion and a Splice Site Mutation in the LAMB3 Gene Causes Nonlethal Junctional Epidermolysis Bullosa","volume":"243","author":"Posteraro","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_12","first-page":"859","article-title":"LAMB3 Mutations in Generalized Atrophic Benign Epidermolysis Bullosa: Consequences at the mRNA and Protein Levels","volume":"78","author":"Pulkkinen","year":"1998","journal-title":"Lab. Investig."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1001\/archderm.134.2.199","article-title":"Generalized Atrophic Benign Epidermolysis Bullosa in 2 Siblings Complicated by Multiple Squamous Cell Carcinomas","volume":"134","author":"Swensson","year":"1998","journal-title":"Arch. Dermatol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"adv00503","DOI":"10.2340\/00015555-3843","article-title":"Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases","volume":"101","author":"Yu","year":"2021","journal-title":"Acta Derm. Venereol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jmg.2006.045302","article-title":"Epidermolysis Bullosa. II. Type VII Collagen Mutations and Phenotype-Genotype Correlations in the Dystrophic Subtypes","volume":"44","author":"Varki","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1684\/ejd.2011.1583","article-title":"Novel and Recurrent COL7A1 Mutation in a Polish Population","volume":"22","author":"Kowalewski","year":"2012","journal-title":"Eur. J. Dermatol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Beilin, A.K., Evtushenko, N.A., Lukyanov, D.K., Murashkin, N.N., Ambarchian, E.T., Pushkov, A.A., Savostyanov, K.V., Fisenko, A.P., Rogovaya, O.S., and Vasiliev, A.V. (2021). Signatures of Dermal Fibroblasts from RDEB Pediatric Patients. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22041792"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Savostyanov, K., Murashkin, N., Pushkov, A., Zhanin, I., Suleymanov, E., Akhkiamova, M., Shchagina, O., Balanovska, E., Epishev, R., and Polyakov, A. (2022). Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms232214343"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.omtn.2019.09.011","article-title":"Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination","volume":"18","author":"Kocher","year":"2019","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1080\/09546634.2018.1527999","article-title":"Neonatal Epidermolysis Bullosa: Lessons to Learn about Genetic Counseling","volume":"32","author":"Chong","year":"2021","journal-title":"J. Dermatol. Treat."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"6","DOI":"10.5582\/irdr.2017.01005","article-title":"Novel and Emerging Therapies in the Treatment of Recessive Dystrophic Epidermolysis Bullosa","volume":"6","author":"Rashidghamat","year":"2017","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/sj.clpt.6100012","article-title":"Aminoglycoside-Induced Translational Read-through in Disease: Overcoming Nonsense Mutations by Pharmacogenetic Therapy","volume":"81","author":"Zingman","year":"2007","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1038\/mt.2014.140","article-title":"Aminoglycosides Restore Full-Length Type VII Collagen by Overcoming Premature Termination Codons: Therapeutic Implications for Dystrophic Epidermolysis Bullosa","volume":"22","author":"Cogan","year":"2014","journal-title":"Mol. Ther."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"3028","DOI":"10.1172\/JCI92707","article-title":"Gentamicin Induces Functional Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Patients","volume":"127","author":"Woodley","year":"2017","journal-title":"J. Clin. Investig."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A Rule for Termination-Codon Position within Intron-Containing Genes: When Nonsense Affects RNA Abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"102334","DOI":"10.1016\/j.omtn.2024.102334","article-title":"Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa","volume":"35","author":"Levian","year":"2024","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1126\/science.1261877","article-title":"Effect of Predicted Protein-Truncating Genetic Variants on the Human Transcriptome","volume":"348","author":"Rivas","year":"2015","journal-title":"Science"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ajhg.2018.06.009","article-title":"Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles","volume":"103","author":"White","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Vermeer, F., Bremer, J., Sietsma, R., Sandilands, A., Hickerson, R., Bolling, M., Pasmooij, A., Lemmink, H., Swertz, M., and Knoers, N. (2021). Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222212222"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1046\/j.1523-1747.2002.19606.x","article-title":"Genotype\u2013Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa","volume":"119","author":"Gardella","year":"2002","journal-title":"J. Investig. Dermatol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1684\/ejd.2010.1247","article-title":"Mild Recessive Dystrophic Epidermolysis Bullosa Associated with Two Compound Heterozygous COL7A1 Mutations","volume":"21","author":"Has","year":"2011","journal-title":"Eur. J. Dermatol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e2401781121","DOI":"10.1073\/pnas.2401781121","article-title":"Splice Modulation Strategy Applied to Deep Intronic Variants in COL7A1 Causing Recessive Dystrophic Epidermolysis Bullosa","volume":"121","author":"Pironon","year":"2024","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Gon\u00e7alves, M., Santos, J.I., Coutinho, M.F., Matos, L., and Alves, S. (2023). Development of Engineered-U1 snRNA Therapies: Current Status. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241914617"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.22931","article-title":"Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides","volume":"37","author":"Igreja","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1016\/j.jid.2016.07.029","article-title":"Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model","volume":"136","author":"Turczynski","year":"2016","journal-title":"J. Investig. Dermatol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e379","DOI":"10.1038\/mtna.2016.87","article-title":"Antisense Oligonucleotide-Mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa","volume":"5","author":"Bremer","year":"2016","journal-title":"Mol. Ther.-Nucleic Acids"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.jid.2020.08.018","article-title":"QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study","volume":"141","author":"Bornert","year":"2021","journal-title":"J. Investig. Dermatol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1038\/mt.2016.92","article-title":"Analysis of the Functional Consequences of Targeted Exon Deletion in COL7A1 Reveals Prospects for Dystrophic Epidermolysis Bullosa Therapy","volume":"24","author":"Bornert","year":"2016","journal-title":"Mol. Ther."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.omtn.2019.09.009","article-title":"Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa","volume":"18","author":"Bremer","year":"2019","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1111\/1346-8138.14271","article-title":"Splice Site Mutation in COL 7A1 Resulting in Aberrant In-frame Transcripts Identified in a Case of Recessive Dystrophic Epidermolysis Bullosa, Pretibial","volume":"45","author":"Masunaga","year":"2018","journal-title":"J. Dermatol."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Belova, V., Pavlova, A., Afasizhev, R., Moskalenko, V., Korzhanova, M., Krivoy, A., Cheranev, V., Nikashin, B., Bulusheva, I., and Rebrikov, D. (2022). System Analysis of the Sequencing Quality of Human Whole Exome Samples on BGI NGS Platform. Sci. Rep., 12.","DOI":"10.1038\/s41598-021-04526-8"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/12\/5762\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:52:48Z","timestamp":1760032368000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/12\/5762"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,16]]},"references-count":42,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["ijms26125762"],"URL":"https:\/\/doi.org\/10.3390\/ijms26125762","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,16]]}}}