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The genetic and clinical variability of DM1 depend on the sex and age of the transmitting parent, but also on the CTG repeat number, presence of repeat interruptions and\/or on the degree of somatic instability. Currently, it is difficult to simultaneously and accurately determine these contributing factors in DM1 patients due to the limitations of gold standard methods used in molecular diagnostics and research laboratories. Our study showed the efficiency of the latest PacBio long-read sequencing technology to sequence large CTG trinucleotides, detect multiple and single repeat interruptions and estimate the levels of somatic mosaicism in DM1 patients carrying complex CTG repeat expansions inaccessible to most methods. Using this innovative approach, we revealed the existence of de novo CCG interruptions associated with CTG stabilization\/contraction across generations in a new DM1 family. We also demonstrated that our method is suitable to sequence the DM1 locus and measure somatic mosaicism in DM1 families carrying more than 1000 pure CTG repeats. Better characterization of expanded alleles in DM1 patients can significantly improve prognosis and genetic counseling, not only in DM1 but also for other tandem DNA repeat disorders.<\/jats:p>","DOI":"10.3390\/ijms22052616","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T05:03:15Z","timestamp":1614920595000},"page":"2616","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1"],"prefix":"10.3390","volume":"22","author":[{"given":"Antoine","family":"Mangin","sequence":"first","affiliation":[{"name":"Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Universit\u00e9, F-75013 Paris, France"},{"name":"Dementia Research Institute, Cardiff University, Cardiff CF10 3AT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"de Pontual","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Universit\u00e9, F-75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2958-0278","authenticated-orcid":false,"given":"Yu-Chih","family":"Tsai","sequence":"additional","affiliation":[{"name":"Pacific Biosciences, Menlo Park, CA 94025, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetitia","family":"Monteil","sequence":"additional","affiliation":[{"name":"Genetics Department of the Hospital of Toulouse, F-31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2170-4210","authenticated-orcid":false,"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Boisseau","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6627-8748","authenticated-orcid":false,"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires AOC, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Ziegle","sequence":"additional","affiliation":[{"name":"Pacific Biosciences, Menlo Park, CA 94025, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Harting","sequence":"additional","affiliation":[{"name":"Pacific Biosciences, Menlo Park, CA 94025, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Heiner","sequence":"additional","affiliation":[{"name":"Pacific Biosciences, Menlo Park, CA 94025, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Gourdon","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Universit\u00e9, F-75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Tom\u00e9","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Universit\u00e9, F-75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/B978-0-444-63233-3.00009-9","article-title":"Repeat expansion diseases","volume":"Volume 147","author":"Paulson","year":"2018","journal-title":"Handbook of Clinical Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular Basis of Myotonic Dystrophy: Expansion of a Trinucleotide (CTG) Repeat at the 3\u2032 End of a Transcript Encoding a Protein Kinase Family Member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Tom\u00e9, S., and Gourdon, G. (2020). DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21020457"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.neurol.2016.08.003","article-title":"Unravelling the Myotonic Dystrophy Type 1 Clinical Spectrum: A Systematic Registry-Based Study with Implications for Disease Classification","volume":"172","author":"Dogan","year":"2016","journal-title":"Rev. Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Dogan, C., De Antonio, M., Hamroun, D., Varet, H., Fabbro, M., Rougier, F., Amarof, K., Arne Bes, M.-C., Bedat-Millet, A.-L., and Behin, A. (2016). Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. Plos ONE, 11.","DOI":"10.1371\/journal.pone.0148264"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1093\/hmg\/dds185","article-title":"Somatic Instability of the Expanded CTG Triplet Repeat in Myotonic Dystrophy Type 1 Is a Heritable Quantitative Trait and Modifier of Disease Severity","volume":"21","author":"Morales","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/j.cell.2019.06.036","article-title":"CAG Repeat Not Polyglutamine Length Determines Timing of Huntington\u2019s Disease Onset","volume":"178","author":"Lee","year":"2019","journal-title":"Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1093\/hmg\/ddaa123","article-title":"Longitudinal Increases in Somatic Mosaicism of the Expanded CTG Repeat in Myotonic Dystrophy Type 1 Are Associated with Variation in Age-at-Onset","volume":"29","author":"Morales","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1093\/hmg\/ddz055","article-title":"Allele Length of the DMPK CTG Repeat Is a Predictor of Progressive Myotonic Dystrophy Type 1 Phenotypes","volume":"28","author":"Overend","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e995","DOI":"10.1212\/WNL.0000000000008056","article-title":"Genetic Determinants of Disease Severity in the Myotonic Dystrophy Type 1 OPTIMISTIC Cohort","volume":"93","author":"Cumming","year":"2019","journal-title":"Neurology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.dnarep.2016.01.001","article-title":"A Polymorphism in the MSH3 Mismatch Repair Gene Is Associated with the Levels of Somatic Instability of the Expanded CTG Repeat in the Blood DNA of Myotonic Dystrophy Type 1 Patients","volume":"40","author":"Morales","year":"2016","journal-title":"DNA Repair"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1093\/brain\/awz115","article-title":"MSH3 Modifies Somatic Instability and Disease Severity in Huntington\u2019s and Myotonic Dystrophy Type 1","volume":"142","author":"Flower","year":"2019","journal-title":"Brain"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"244","DOI":"10.3389\/fgene.2014.00244","article-title":"The Role of AGG Interruptions in Fragile X Repeat Expansions: A Twenty-Year Perspective","volume":"5","author":"Latham","year":"2014","journal-title":"Front. Genet."},{"key":"ref_14","first-page":"546","article-title":"The EVect of CAT Trinucleotide Interruptions on the Age at Onset of Spinocerebellar Ataxia Type 1","volume":"36","author":"Matsuyama","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s40673-016-0058-y","article-title":"Expansion, Mosaicism and Interruption: Mechanisms of the CAG Repeat Mutation in Spinocerebellar Ataxia Type 1","volume":"3","author":"Lagalwar","year":"2016","journal-title":"Cerebellum Ataxias"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/humu.23531","article-title":"Unusual Association of a Unique CAG Interruption in 5\u2032 of DM1 CTG Repeats with Intergenerational Contractions and Low Somatic Mosaicism","volume":"39","author":"Dandelot","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1093\/hmg\/ddq015","article-title":"Variant CCG and GGC Repeats within the CTG Expansion Dramatically Modify Mutational Dynamics and Likely Contribute toward Unusual Symptoms in Some Myotonic Dystrophy Type 1 Patients","volume":"19","author":"Braida","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"The Scottish Myotonic Dystrophy Consortium, Cumming, S.A., Hamilton, M.J., Robb, Y., Gregory, H., McWilliam, C., Cooper, A., Adam, B., McGhie, J., and Hamilton, G. (2018). De Novo Repeat Interruptions Are Associated with Reduced Somatic Instability and Mild or Absent Clinical Features in Myotonic Dystrophy Type 1. Eur. J. Hum. Genet., 26, 1635\u20131647.","DOI":"10.1038\/s41431-018-0156-9"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1111\/cge.12954","article-title":"Myotonic Dystrophy Type 1: Role of CCG, CTC and CGG Interruptions within DMPK Alleles in the Pathogenesis and Molecular Diagnosis: Variant Interruptions in Pathogenesis and Molecular Diagnosis of DM1","volume":"92","author":"Santoro","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1007\/s00415-012-6779-9","article-title":"Molecular, Clinical, and Muscle Studies in Myotonic Dystrophy Type 1 (DM1) Associated with Novel Variant CCG Expansions","volume":"260","author":"Santoro","year":"2013","journal-title":"J. Neurol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/humu.23932","article-title":"A DM1 Family with Interruptions Associated with Atypical Symptoms and Late Onset but Not with a Milder Phenotype","volume":"41","author":"Koehorst","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"601","DOI":"10.3389\/fgene.2018.00601","article-title":"Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells","volume":"9","year":"2018","journal-title":"Front. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e504","DOI":"10.1212\/NXG.0000000000000504","article-title":"Variant Repeats within the DMPK CTG Expansion Protect Function in Myotonic Dystrophy Type 1","volume":"6","author":"Miller","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1097\/PDM.0b013e3181efe290","article-title":"Effect of Unexpected Sequence Interruptions to Conventional PCR and Repeat Primed PCR in Myotonic Dystrophy Type 1 Testing","volume":"20","author":"Radvansky","year":"2011","journal-title":"Diagn. Mol. Pathol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.cca.2018.05.040","article-title":"Incidence of Amplification Failure in DMPK Allele Due to Allelic Dropout Event in a Diagnostic Laboratory","volume":"484","author":"Cardani","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ejhg.2016.148","article-title":"Identification and Characterization of 5\u2032 CCG Interruptions in Complex DMPK Expanded Alleles","volume":"25","author":"Botta","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2645","DOI":"10.1016\/j.bbadis.2015.09.007","article-title":"Expansion Size and Presence of CCG\/CTC\/CGG Sequence Interruptions in the Expanded CTG Array Are Independently Associated to Hypermethylation at the DMPK Locus in Myotonic Dystrophy Type 1 (DM1)","volume":"1852","author":"Santoro","year":"2015","journal-title":"Biochim. Biophys. Acta (BBA) Mol. Basis Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1089\/gtmb.2012.0218","article-title":"Triplet-Primed PCR Is More Sensitive than Southern Blotting\u2013Long PCR for the Diagnosis of Myotonic Dystrophy Type1","volume":"16","author":"Addis","year":"2012","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_29","first-page":"13","article-title":"Identification, Molecular Characterization and Segregation Analysis of a Variant DMPK Pre-Mutation Allele in a Three-Generation Italian Family","volume":"39","author":"Fontana","year":"2020","journal-title":"Acta. Myol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1080\/14737159.2016.1241145","article-title":"Defining the Performance Parameters of a Rapid Screening Tool for Myotonic Dystrophy Type 1 Based on Triplet-Primed PCR and Melt Curve Analysis","volume":"16","author":"Lian","year":"2016","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1093\/hmg\/4.1.135","article-title":"A Novel Repeat Structure at the Myotonic Dystrophy Locus in a 37 Repeat Allele with Unexpectedly High Stability","volume":"4","author":"Arnhelm","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1002\/ajmg.a.32987","article-title":"Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene","volume":"149A","author":"Musova","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/978-1-4939-9784-8_2","article-title":"Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions","volume":"Volume 2056","author":"Richard","year":"2020","journal-title":"Trinucleotide Repeats"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1136\/jmg.33.12.1022","article-title":"A General Method for the Detection of Large CAG Repeat Expansions by Fluorescent PCR","volume":"33","author":"Warner","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"426","DOI":"10.3389\/fgene.2019.00426","article-title":"Long-Read Sequencing Emerging in Medical Genetics","volume":"10","author":"Mantere","year":"2019","journal-title":"Front. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1101\/gr.141705.112","article-title":"Sequencing the Unsequenceable: Expanded CGG-Repeat Alleles of the Fragile X Gene","volume":"23","author":"Loomis","year":"2013","journal-title":"Genome Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1002\/humu.23580","article-title":"Detailed Analysis of HTT Repeat Elements in Human Blood Using Targeted Amplification-Free Long-Read Sequencing","volume":"39","author":"Tsai","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s10038-019-0671-8","article-title":"Long-Read Sequencing for Rare Human Genetic Diseases","volume":"65","author":"Mitsuhashi","year":"2020","journal-title":"J. Hum. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1093\/hmg\/3.1.45","article-title":"High Resolution Genetic Analysis Suggests One Ancestral Predisposing Haplotype for the Origin of the Myotonic Dystrophy Mutation","volume":"3","author":"Korneluk","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng0593-72","article-title":"Origin of the Expansion Mutation in Myotonic Dystrophy","volume":"4","author":"Imbert","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.nmd.2017.09.004","article-title":"Origin of the Myotonic Dystrophy Type 1 Mutation in Mexican Population and Influence of Amerindian Ancestry on CTG Repeat Allelic Distribution","volume":"27","author":"Orozco","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Franck, S., Barb\u00e9, L., Ardui, S., De Vlaeminck, Y., Allemeersch, J., Dziedzicka, D., Spits, C., Vanroye, F., Hilven, P., and Duqu\u00e9, G. (2020). MSH2 Knock-down Shows CTG Repeat Stability and Concomitant Upstream Demethylation at the DMPK Locus in Myotonic Dystrophy Type 1 Human Embryonic Stem Cells. Hum. Mol. Genet., ddaa250.","DOI":"10.1101\/2020.09.25.313197"},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Hiatt, S.M., Lawlor, J.M.J., Handley, L.H., Ramaker, R.C., Rogers, B.B., Partridge, E.C., Boston, L.B., Williams, M., Plott, C.B., and Jenkins, J. (2021). Long-Read. Genome Sequencing for the Diagnosis of Neurodevelopmental Disorders. Hum. Genet. Genom. Adv., 2.","DOI":"10.1016\/j.xhgg.2021.100023"},{"key":"ref_44","first-page":"875","article-title":"Myotonic Dystrophy: Size- and Sex-Dependent Dynamics of CTG Meiotic Instability, and Somatic Mosaicism","volume":"52","author":"Lavedan","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/ejhg.2014.138","article-title":"Parental Age Effects, but No Evidence for an Intrauterine Effect in the Transmission of Myotonic Dystrophy Type 1","volume":"23","author":"Morales","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1038\/s41431-020-0601-4","article-title":"Parental Repeat Length Instability in Myotonic Dystrophy Type 1 Pre- and Protomutations","volume":"28","author":"Joosten","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1093\/hmg\/6.6.877","article-title":"Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development","volume":"6","author":"Martorell","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1093\/hmg\/4.7.1147","article-title":"Heterogeneity of DM Kinase Repeat Expansion in Different Fetal Tissues and Further Expansion during Cell Proliferation in Vitro: Evidence for a Casual Involvement of Methyl-Directed DNA Mismatch Repair in Triplet Repeat Stability","volume":"4","author":"Kennerknecht","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1038\/s41436-019-0453-x","article-title":"CRISPR\/Cas9-Targeted Enrichment and Long-Read Sequencing of the Fuchs Endothelial Corneal Dystrophy\u2013Associated TCF4 Triplet Repeat","volume":"21","author":"Tsai","year":"2019","journal-title":"Genet. Med."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"The Filnemus Myotonic Dystrophy Study Group, De Antonio, M., Dogan, C., Daidj, F., Eymard, B., Puymirat, J., Mathieu, J., Gagnon, C., Katsahian, S., and Hamroun, D. (2019). The DM-Scope Registry: A Rare Disease Innovative Framework Bridging the Gap between Research and Medical Care. Orphanet J. Rare Dis., 14, 122.","DOI":"10.1186\/s13023-019-1088-3"},{"key":"ref_51","unstructured":"(2020). Procedure & Checklist\u2014Preparing SMRTbell Libraries Using PacBio Barcoded Universal Primers for Multiplexing Amplicons, PacBio."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/5\/2616\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:33:19Z","timestamp":1760160799000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/5\/2616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,5]]},"references-count":51,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,3]]}},"alternative-id":["ijms22052616"],"URL":"https:\/\/doi.org\/10.3390\/ijms22052616","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,5]]}}}