{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T01:05:06Z","timestamp":1778979906214,"version":"3.51.4"},"reference-count":43,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T00:00:00Z","timestamp":1687478400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Vivian Allison and Daniel J. Pachman Fund","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"The Vivian Allison and Daniel J. Pachman Fund","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"The Vivian Allison and Daniel J. Pachman Fund","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]},{"name":"The DenUyl Family Fund","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"The DenUyl Family Fund","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"The DenUyl Family Fund","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]},{"name":"The Cure JM Foundation","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"The Cure JM Foundation","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"The Cure JM Foundation","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]},{"DOI":"10.13039\/501100006701","name":"Umm Al-Qura University","doi-asserted-by":"publisher","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}],"id":[{"id":"10.13039\/501100006701","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006701","name":"Umm Al-Qura University","doi-asserted-by":"publisher","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}],"id":[{"id":"10.13039\/501100006701","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006701","name":"Umm Al-Qura University","doi-asserted-by":"publisher","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}],"id":[{"id":"10.13039\/501100006701","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Northwestern University Skin Biology and Diseases Resource-based Center","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"Northwestern University Skin Biology and Diseases Resource-based Center","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"Northwestern University Skin Biology and Diseases Resource-based Center","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]},{"name":"National Institutes of Health (NIH)","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"National Institutes of Health (NIH)","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"National Institutes of Health (NIH)","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]},{"name":"Deanship of Scientific Research, Taif University","award":["23UQU4300201DSR07"],"award-info":[{"award-number":["23UQU4300201DSR07"]}]},{"name":"Deanship of Scientific Research, Taif University","award":["P30AR075049"],"award-info":[{"award-number":["P30AR075049"]}]},{"name":"Deanship of Scientific Research, Taif University","award":["UL1TR001422"],"award-info":[{"award-number":["UL1TR001422"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Otoferlin mRNA expression is increased in JDM patients\u2019 PBMCs and muscle compared to healthy controls. This study aims to evaluate the role of otoferlin in JDM disease pathophysiology and its association with disease activity in untreated children with JDM. A total of 26 untreated JDM (88.5% female, 92.3% white, non-Hispanic) and 15 healthy controls were included in this study. Otoferlin mRNA expression was determined by qRT-PCR before and a few months after therapy. Detailed flow cytometry of various cell surface markers and cytoplasmic otoferlin was performed to identify cells expressing otoferlin. In addition, muscle otoferlin expression was evaluated in situ in six untreated JDM patients and three healthy controls. There was a significant increase in otoferlin expression in JDM children compared to controls (Median 67.5 vs. 2.1; p = 0.001). There was a positive correlation between mRNA otoferlin expression and the following disease activity markers: disease activity scores (DAS)-total (rs = 0.62, p &lt; 0.001); childhood myositis assessment scale (CMAS) (rs = \u22120.61, p = 0.002); neopterin (rs = 0.57, p = 0.004) and von Willebrand factor antigen (vWF: Ag) (rs = 0.60, p = 0.004). Most of the otoferlin-positive cells were unswitched B cells (63\u201399.4%), with 65\u201375% of them expressing plasmablast markers (CD19+, IgM+, CD38hi, CD24\u2212). The findings of this pilot study suggest that otoferlin expression is associated with muscle weakness, making it a possible biomarker of disease activity. Additionally, B cells and plasmablasts were the primary cells expressing otoferlin.<\/jats:p>","DOI":"10.3390\/ijms241310553","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T01:42:32Z","timestamp":1687743752000},"page":"10553","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Increased Otoferlin Expression in B Cells Is Associated with Muscle Weakness in Untreated Juvenile Dermatomyositis: A Pilot Study"],"prefix":"10.3390","volume":"24","author":[{"given":"Ameera","family":"Bukhari","sequence":"first","affiliation":[{"name":"College of Science, Taif University, Taif 21944, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3357-4863","authenticated-orcid":false,"given":"Amer","family":"Khojah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Umm Al-Qura University, Makkah 24381, Saudi Arabia"},{"name":"Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfredo","family":"Marin","sequence":"additional","affiliation":[{"name":"Stanley Manne Children\u2019s Research Institute, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6301-4619","authenticated-orcid":false,"given":"Andrey","family":"Khramtsov","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galina","family":"Khramtsova","sequence":"additional","affiliation":[{"name":"Stanley Manne Children\u2019s Research Institute, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9859-3059","authenticated-orcid":false,"given":"Christopher","family":"Costin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-7112","authenticated-orcid":false,"given":"Gabrielle","family":"Morgan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-598X","authenticated-orcid":false,"given":"Prathyaya","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Dermatology, Microbiology & Immunology, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marisa S.","family":"Klein-Gitelman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6853-4007","authenticated-orcid":false,"given":"I. Caroline","family":"Le Poole","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"},{"name":"Department of Dermatology, Microbiology & Immunology, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8117-574X","authenticated-orcid":false,"given":"Lauren M.","family":"Pachman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.jpeds.2017.12.053","article-title":"Advances in Juvenile Dermatomyositis: Myositis Specific Antibodies Aid in Understanding Disease Heterogeneity","volume":"195","author":"Pachman","year":"2018","journal-title":"J. Pediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/art.11122","article-title":"US incidence of juvenile dermatomyositis, 1995\u20131998: Results from the National Institute of Arthritis and Musculoskeletal and Skin Diseases Registry","volume":"49","author":"Mendez","year":"2003","journal-title":"Arthritis Rheum."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Khojah, A., Morgan, G., and Pachman, L.M. (2021). Clues to Disease Activity in Juvenile Dermatomyositis: Neopterin and Other Biomarkers. Diagnostics, 12.","DOI":"10.3390\/diagnostics12010008"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00296-020-04735-w","article-title":"Inflammatory milieu of muscle biopsies in juvenile dermatomyositis","volume":"41","author":"Sag","year":"2021","journal-title":"Rheumatol. Int."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/art.23012","article-title":"International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trials","volume":"57","author":"Wedderburn","year":"2007","journal-title":"Arthritis Rheum."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1007\/s10067-021-06044-4","article-title":"Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry","volume":"41","author":"Padem","year":"2022","journal-title":"Clin. Rheumatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s12016-015-8510-y","article-title":"A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy","volume":"52","author":"Satoh","year":"2017","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/art.41078","article-title":"Neutrophil Extracellular Traps in Tissue and Periphery in Juvenile Dermatomyositis","volume":"72","author":"Duvvuri","year":"2020","journal-title":"Arthritis Rheumatol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"134189","DOI":"10.1172\/jci.insight.134189","article-title":"Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies","volume":"5","author":"Seto","year":"2020","journal-title":"JCI Insight"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"103061","DOI":"10.1016\/j.jaut.2023.103061","article-title":"Role of mitochondria in the myopathy of juvenile dermatomyositis and implications for skeletal muscle calcinosis","volume":"138","author":"Duvvuri","year":"2023","journal-title":"J. Autoimmun."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s40674-020-00168-5","article-title":"Juvenile Dermatomyositis: New Clues to Diagnosis and Therapy","volume":"7","author":"Pachman","year":"2021","journal-title":"Curr. Treatm. Opt. Rheumatol."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Roberson, E.D.O., Mesa, R.A., Morgan, G.A., Cao, L., Marin, W., and Pachman, L.M. (2021). Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive. bioRxiv.","DOI":"10.1101\/2021.05.07.443007"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s13075-020-02160-9","article-title":"Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies","volume":"22","author":"Kim","year":"2020","journal-title":"Arthritis Res. Ther."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/tra.12370","article-title":"Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane\/Late Endosomal or Trans-Golgi\/Recycling Ferlins","volume":"17","author":"Redpath","year":"2016","journal-title":"Traffic"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e31013","DOI":"10.7554\/eLife.31013","article-title":"Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses","volume":"6","author":"Michalski","year":"2017","journal-title":"eLife"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.cell.2006.08.040","article-title":"Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse","volume":"127","author":"Roux","year":"2006","journal-title":"Cell"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"E345","DOI":"10.1002\/humu.20910","article-title":"Analysis of the DYSF mutational spectrum in a large cohort of patients","volume":"30","author":"Krahn","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"89","DOI":"10.3389\/fphys.2014.00089","article-title":"Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle","volume":"5","author":"Kerr","year":"2014","journal-title":"Front. Physiol."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"(2018). Correction: European League Against Rheumatism\/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups. Ann. Rheum. Dis., 77, e64.","DOI":"10.1136\/annrheumdis-2017-211468corr1"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1056\/NEJM197502132920706","article-title":"Polymyositis and dermatomyositis (first of two parts)","volume":"292","author":"Bohan","year":"1975","journal-title":"N. Engl. J. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1056\/NEJM197502202920807","article-title":"Polymyositis and dermatomyositis (second of two parts)","volume":"292","author":"Bohan","year":"1975","journal-title":"N. Engl. J. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/art.10924","article-title":"Disease activity score for children with juvenile dermatomyositis: Reliability and validity evidence","volume":"49","author":"Bode","year":"2003","journal-title":"Arthritis Rheum."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.jaut.2017.06.007","article-title":"Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort","volume":"84","author":"Tansley","year":"2017","journal-title":"J. Autoimmun."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1111\/iju.14486","article-title":"Otoferlin is a prognostic biomarker in patients with clear cell renal cell carcinoma: A systematic expression analysis","volume":"28","author":"Cox","year":"2021","journal-title":"Int. J. Urol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"16878","DOI":"10.1038\/s41598-017-17204-5","article-title":"QuPath: Open source software for digital pathology image analysis","volume":"7","author":"Bankhead","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_26","first-page":"311","article-title":"The otoferlin interactome in neurosensory hair cells: Significance for synaptic vesicle release and trans-Golgi network (Review)","volume":"28","author":"Zak","year":"2011","journal-title":"Int. J. Mol. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"14273","DOI":"10.1038\/s41598-019-50710-2","article-title":"Otoferlin Depletion Results in Abnormal Synaptic Ribbons and Altered Intracellular Calcium Levels in Zebrafish","volume":"9","author":"Manchanda","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.tcb.2004.03.001","article-title":"Dysferlin and the plasma membrane repair in muscular dystrophy","volume":"14","author":"Bansal","year":"2004","journal-title":"Trends Cell Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1136\/jmg.40.1.45","article-title":"Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene","volume":"40","author":"Varga","year":"2003","journal-title":"J. Med. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s12969-021-00622-1","article-title":"Changes in total body fat and body mass index among children with juvenile dermatomyositis treated with high-dose glucocorticoids","volume":"19","author":"Khojah","year":"2021","journal-title":"Pediatr. Rheumatol. Online J."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Gibbs, E.K.A., Morgan, G., Ehwerhemuepha, L., and Pachman, L.M. (2023). The von Willebrand Factor Antigen Reflects the Juvenile Dermatomyositis Disease Activity Score. Biomedicines, 11.","DOI":"10.3390\/biomedicines11020552"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.3899\/jrheum.181275","article-title":"Endothelial Activation Markers as Disease Activity and Damage Measures in Juvenile Dermatomyositis","volume":"47","author":"Kishi","year":"2020","journal-title":"J. Rheumatol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e000385","DOI":"10.1136\/rmdopen-2016-000385","article-title":"Decreased CD3-CD16+CD56+ natural killer cell counts in children with orbital myositis: A clue to disease activity","volume":"3","author":"Briones","year":"2017","journal-title":"RMD Open"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.clicom.2023.02.007","article-title":"Lower NK Cell Numbers in Children with Untreated Juvenile Dermatomyositis During the COVID-19 Pandemic","volume":"3","author":"Costin","year":"2023","journal-title":"Clin. Immunol. Commun."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1002\/acr.24535","article-title":"Association of p155\/140 Autoantibody With Loss of Nailfold Capillaries but not Generalized Lipodystrophy: A Study of Ninety-Six Children With Juvenile Dermatomyositis","volume":"74","author":"Khojah","year":"2022","journal-title":"Arthritis Care Res."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/art.37754","article-title":"Rituximab in the treatment of refractory adult and juvenile dermatomyositis and adult polymyositis: A randomized, placebo-phase trial","volume":"65","author":"Oddis","year":"2013","journal-title":"Arthritis Rheum."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/art.38270","article-title":"Predictors of clinical improvement in rituximab-treated refractory adult and juvenile dermatomyositis and adult polymyositis","volume":"66","author":"Aggarwal","year":"2014","journal-title":"Arthritis Rheumatol."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Ochfeld, E., Hans, V., Marin, W., Ahsan, N., Morgan, G., Pachman, L.M., and Khojah, A. (2022). Coding joint: Kappa-deleting recombination excision circle ratio and B cell activating factor level: Predicting juvenile dermatomyositis rituximab response, a proof-of-concept study. BMC Rheumatol., 6.","DOI":"10.1186\/s41927-022-00265-z"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1056\/NEJMoa2117912","article-title":"Trial of Intravenous Immune Globulin in Dermatomyositis","volume":"387","author":"Aggarwal","year":"2022","journal-title":"N. Engl. J. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"102997","DOI":"10.1016\/j.autrev.2021.102997","article-title":"Efficacy and safety of intravenous and subcutaneous immunoglobulin therapy in idiopathic inflammatory myopathy: A systematic review and meta-analysis","volume":"21","author":"Goswami","year":"2022","journal-title":"Autoimmun. Rev."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.3389\/fimmu.2018.01372","article-title":"CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-alpha","volume":"9","author":"Piper","year":"2018","journal-title":"Front. Immunol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.celrep.2018.06.046","article-title":"B-Cell-Intrinsic Type 1 Interferon Signaling Is Crucial for Loss of Tolerance and the Development of Autoreactive B Cells","volume":"24","author":"Domeier","year":"2018","journal-title":"Cell Rep."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"677543","DOI":"10.3389\/fncel.2021.677543","article-title":"Otoferlin Is Required for Proper Synapse Maturation and for Maintenance of Inner and Outer Hair Cells in Mouse Models for DFNB9","volume":"15","author":"Stalmann","year":"2021","journal-title":"Front. Cell. Neurosci."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/13\/10553\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:59:25Z","timestamp":1760126365000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/13\/10553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,23]]},"references-count":43,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["ijms241310553"],"URL":"https:\/\/doi.org\/10.3390\/ijms241310553","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,23]]}}}