{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:56Z","timestamp":1791536276373,"version":"4.3.4"},"reference-count":77,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["19-29-04044,19-34-95690066"],"award-info":[{"award-number":["19-29-04044,19-34-95690066"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin. However, the correlations between the specific mutations in COL7A1 and their phenotypic output remain largely unexplored. The mutations in the COL7A1 gene, described here, were found in the DEB register. Among them, two homozygous mutations and two cases of compound heterozygous mutations were identified. We created the panel of primary patient-specific RDEB fibroblast lines (FEB) and compared it with control fibroblasts from healthy donors (FHC). The set of morphological features and the contraction capacity of the cells distinguished FEB from FHC. We also report the relationships between the mutations and several phenotypic traits of the FEB. Based on the analysis of the available RNA-seq data of RDEB fibroblasts, we performed an RT-qPCR gene expression analysis of our cell lines, confirming the differential status of multiple genes while uncovering the new ones. We anticipate that our panels of cell lines will be useful not only for studying RDEB signatures but also for investigating the overall mechanisms involved in disease progression.<\/jats:p>","DOI":"10.3390\/ijms22041792","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T18:45:00Z","timestamp":1613155500000},"page":"1792","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Signatures of Dermal Fibroblasts from RDEB Pediatric Patients"],"prefix":"10.3390","volume":"22","author":[{"given":"Arkadii K.","family":"Beilin","sequence":"first","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, 117997 Moscow, Russia"},{"name":"Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilova Str., 119334 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1726-1939","authenticated-orcid":false,"given":"Nadezhda A.","family":"Evtushenko","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8037-4752","authenticated-orcid":false,"given":"Daniil K.","family":"Lukyanov","sequence":"additional","affiliation":[{"name":"Center of Life Sciences, Skolkovo Institute of Science and Technology, Bolshoy Boulevard 30, Building 1, 121205 Moscow, Russia"},{"name":"Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Miklukho-Maklaya 16\/10, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolay N.","family":"Murashkin","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Children\u2019s Health, Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Lomonosovsky Prospekt, 2, Building 1, 119296 Moscow, Russia"},{"name":"Diagnostic and Treatment Department, University Children\u2019s Hospital (UCH), Sechenov First Moscow State Medical University (Sechenov University), 119435 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard T.","family":"Ambarchian","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Children\u2019s Health, Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Lomonosovsky Prospekt, 2, Building 1, 119296 Moscow, Russia"},{"name":"Diagnostic and Treatment Department, University Children\u2019s Hospital (UCH), Sechenov First Moscow State Medical University (Sechenov University), 119435 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.","family":"Pushkov","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Children\u2019s Health, Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Lomonosovsky Prospekt, 2, Building 1, 119296 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirill V.","family":"Savostyanov","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Children\u2019s Health, Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Lomonosovsky Prospekt, 2, Building 1, 119296 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey P.","family":"Fisenko","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Children\u2019s Health, Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Lomonosovsky Prospekt, 2, Building 1, 119296 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga S.","family":"Rogovaya","sequence":"additional","affiliation":[{"name":"Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilova Str., 119334 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey V.","family":"Vasiliev","sequence":"additional","affiliation":[{"name":"Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilova Str., 119334 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5405-0212","authenticated-orcid":false,"given":"Ekaterina A.","family":"Vorotelyak","sequence":"additional","affiliation":[{"name":"Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilova Str., 119334 Moscow, 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, Ostrovityanova 1, 117997 Moscow, Russia"},{"name":"Koltzov Institute of Developmental Biology of Russian Academy of Sciences, 26 Vavilova Str., 119334 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.det.2009.10.011","article-title":"Type VII Collagen: The Anchoring Fibril Protein at Fault in Dystrophic Epidermolysis Bullosa","volume":"28","author":"Chung","year":"2010","journal-title":"Dermatol. Clin."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.jaad.2008.09.035","article-title":"Epidermolysis Bullosa and the Risk of Life-Threatening Cancers: The National EB Registry Experience, 1986\u20132006","volume":"60","author":"Fine","year":"2009","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3907","DOI":"10.1093\/hmg\/ddu102","article-title":"Monozygotic Twins Discordant for Recessive Dystrophic Epidermolysis Bullosa Phenotype Highlight the Role of TGF-\u03b2 Signalling in Modifying Disease Severity","volume":"23","author":"Odorisio","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Condorelli, A.G., Dellambra, E., Logli, E., Zambruno, G., and Castiglia, D. (2019). Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20225707"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"March, O.P., Kocher, T., and Koller, U. (2020). Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses. Cells, 9.","DOI":"10.3390\/cells9010112"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.jaad.2013.08.014","article-title":"A Phase II Randomized Vehicle-Controlled Trial of Intradermal Allogeneic Fibroblasts for Recessive Dystrophic Epidermolysis Bullosa","volume":"69","author":"Venugopal","year":"2013","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1016\/j.jid.2019.01.011","article-title":"Thrombospondin-1 Is a Major Activator of TGF-\u03b2 Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts","volume":"139","author":"Atanasova","year":"2019","journal-title":"J. Investig. Dermatol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.matbio.2018.12.001","article-title":"Decorin Counteracts Disease Progression in Mice with Recessive Dystrophic Epidermolysis Bullosa","volume":"81","author":"Cianfarani","year":"2019","journal-title":"Matrix Biol. J. Int. Soc. Matrix Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.15252\/emmm.201505061","article-title":"Losartan Ameliorates Dystrophic Epidermolysis Bullosa and Uncovers New Disease Mechanisms","volume":"7","author":"Thriene","year":"2015","journal-title":"EMBO Mol. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"20377","DOI":"10.1038\/s41598-019-56955-1","article-title":"Transcriptomic Changes during TGF-\u03b2-Mediated Differentiation of Airway Fibroblasts to Myofibroblasts","volume":"9","author":"Walker","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_11","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Stephens, K., and Amemiya, A. (1993). Dystrophic Epidermolysis Bullosa. GeneReviews\u00ae, University of Washington."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jmg.2010.082230","article-title":"The Inversa Type of Recessive Dystrophic Epidermolysis Bullosa Is Caused by Specific Arginine and Glycine Substitutions in Type VII Collagen","volume":"48","author":"Mellerio","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1111\/j.1365-2133.2005.06542.x","article-title":"High Frequency of the 425A-->G 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":"Szocs","year":"2005","journal-title":"Br. J. Dermatol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1111\/bjd.13737","article-title":"Characterization of Patients with Dystrophic Epidermolysis Bullosa for Collagen VII Therapy","volume":"173","author":"Gorell","year":"2015","journal-title":"Br. J. Dermatol."},{"key":"ref_15","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_16","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jdermsci.2010.05.007","article-title":"Analysis of the COL7A1 Gene in Czech Patients with Dystrophic Epidermolysis Bullosa Reveals Novel and Recurrent Mutations","volume":"59","year":"2010","journal-title":"J. Dermatol. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1046\/j.1525-1470.2003.20312.x","article-title":"Dystrophic Epidermolysis Bullosa Inversa with COL7A1 Mutations and Absence of GDA-J\/F3 Protein","volume":"20","author":"Kahofer","year":"2003","journal-title":"Pediatr. Dermatol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1365-2133.2006.07285.x","article-title":"Epidermolysis Bullosa Simplex in Japanese and Korean Patients: Genetic Studies in 19 Cases","volume":"155","author":"Yasukawa","year":"2006","journal-title":"Br. J. Dermatol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"262","DOI":"10.2340\/00015555-1053","article-title":"Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa","volume":"91","author":"Almaani","year":"2011","journal-title":"Acta Derm. Venereol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/j.1365-2133.1994.tb08546.x","article-title":"The Epitope for Anti-Type VII Collagen Monoclonal Antibody (LH7:2) Locates at the Central Region of the N-Terminal Non-Collagenous Domain of Type VII Collagen","volume":"131","author":"Tanaka","year":"1994","journal-title":"Br. J. Dermatol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/s12016-007-0027-6","article-title":"Autoimmunity to Type VII Collagen: Epidermolysis Bullosa Acquisita","volume":"33","author":"Woodley","year":"2007","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1365-2133.2010.09713.x","article-title":"The First COL7A1 Mutation Survey in a Large Spanish Dystrophic Epidermolysis Bullosa Cohort: C.6527insC Disclosed as an Unusually Recurrent Mutation","volume":"163","author":"Llames","year":"2010","journal-title":"Br. J. Dermatol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Cuadrado-Corrales, N., S\u00e1nchez-Jimeno, C., Garc\u00eda, M., Esc\u00e1mez, M.-J., Illera, N., Hern\u00e1ndez-Mart\u00edn, \u00c1., Trujillo-Tiebas, M.-J., Ayuso, C., and Del Rio, M. (2010). A Prevalent Mutation with Founder Effect in Spanish Recessive Dystrophic Epidermolysis Bullosa Families. BMC Med. Genet., 11.","DOI":"10.1186\/1471-2350-11-139"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/bjd.17698","article-title":"Fibroblast Activation and Abnormal Extracellular Matrix Remodelling as Common Hallmarks in Three Cancer-Prone Genodermatoses","volume":"181","author":"Conti","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_25","unstructured":"(2020, December 22). GEO Accession Viewer, Available online: https:\/\/www.ncbi.nlm.nih.gov\/geo\/query\/acc.cgi?acc=GSE119501."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3498","DOI":"10.1172\/JCI68127","article-title":"Collagen VII Plays a Dual Role in Wound Healing","volume":"123","author":"Velati","year":"2013","journal-title":"J. Clin. Investig."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/msb.2013.17","article-title":"Global Remodelling of Cellular Microenvironment Due to Loss of Collagen VII","volume":"9","author":"Mack","year":"2013","journal-title":"Mol. Syst. Biol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1074\/mcp.RA117.000437","article-title":"Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-Deficient Keratinocytes","volume":"17","author":"Thriene","year":"2018","journal-title":"Mol. Cell. Proteom. MCP"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1007\/s10815-011-9601-1","article-title":"Pregnancy after PGD for Recessive Dystrophic Epidermolysis Bullosa Inversa: Genetics and Preimplantation Genetics","volume":"28","author":"Vendrell","year":"2011","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"5676","DOI":"10.1073\/pnas.1512028113","article-title":"Site-Specific Genome Editing for Correction of Induced Pluripotent Stem Cells Derived from Dominant Dystrophic Epidermolysis Bullosa","volume":"113","author":"Shinkuma","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.molmed.2006.05.005","article-title":"Applying Nonsense-Mediated MRNA Decay Research to the Clinic: Progress and Challenges","volume":"12","author":"Kuzmiak","year":"2006","journal-title":"Trends Mol. Med."},{"key":"ref_32","first-page":"292","article-title":"Identification of Two Splicing Mutations in the Collagen Type VII Gene (COL7A1) of a Patient Affected by the Localisata Variant of Recessive Dystrophic Epidermolysis Bullosa","volume":"59","author":"Gardella","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/1523-1747.ep12336264","article-title":"A Combination of a Common Splice Site Mutation and a Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin","volume":"109","author":"Kalinke","year":"1997","journal-title":"J. Investig. Dermatol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"17838","DOI":"10.1074\/jbc.M709452200","article-title":"Characterization of Molecular Mechanisms Underlying Mutations in Dystrophic Epidermolysis Bullosa Using Site-Directed Mutagenesis","volume":"283","author":"Woodley","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/515495","article-title":"Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation","volume":"61","author":"Hovnanian","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/humu.20647","article-title":"A Frequent Functional SNP in the MMP1 Promoter Is Associated with Higher Disease Severity in Recessive Dystrophic Epidermolysis Bullosa","volume":"29","author":"Titeux","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"389","DOI":"10.18632\/aging.100755","article-title":"Transcriptome and Ultrastructural Changes in Dystrophic Epidermolysis Bullosa Resemble Skin Aging","volume":"7","author":"Breitenbach","year":"2015","journal-title":"Aging"},{"key":"ref_38","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_39","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1007\/s00018-009-0034-2","article-title":"A Comparative Analysis of the Cell Biology of Senescence and Aging","volume":"66","author":"Hwang","year":"2009","journal-title":"Cell. Mol. Life Sci. CMLS"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1073\/pnas.76.3.1274","article-title":"Production of a Tissue-like Structure by Contraction of Collagen Lattices by Human Fibroblasts of Different Proliferative Potential In Vitro","volume":"76","author":"Bell","year":"1979","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0304-3835(98)00079-2","article-title":"Cell Density-Dependent Regulation of Fibronectin Splicing at the EDA Region in Fibroblasts: Cell Density Also Modulates the Responses of Fibroblasts to TGF-\u03b2 and Cancer Cell-Conditioned Medium","volume":"129","author":"Inoue","year":"1998","journal-title":"Cancer Lett."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.3892\/ijmm.2014.1935","article-title":"Role of MicroRNA-29b in Angiotensin II-Induced Epithelial-Mesenchymal Transition in Renal Tubular Epithelial Cells","volume":"34","author":"Pan","year":"2014","journal-title":"Int. J. Mol. Med."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Lago, J.C., and Puzzi, M.B. (2019). The Effect of Aging in Primary Human Dermal Fibroblasts. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0219165"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"144","DOI":"10.4161\/cc.10.1.14455","article-title":"Cell Size and Growth Rate Are Major Determinants of Replicative Lifespan","volume":"10","author":"Yang","year":"2011","journal-title":"Cell Cycle"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1083\/jcb.130.2.393","article-title":"Identification and Characterization of a Fibroblast Marker: FSP1","volume":"130","author":"Strutz","year":"1995","journal-title":"J. Cell Biol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"14516","DOI":"10.1074\/jbc.272.23.14516","article-title":"Interactions of the Amino-Terminal Noncollagenous (NC1) Domain of Type VII Collagen with Extracellular Matrix Components A POTENTIAL ROLE IN EPIDERMAL-DERMAL ADHERENCE IN HUMAN SKIN","volume":"272","author":"Chen","year":"1997","journal-title":"J. Biol. Chem."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13058-016-0740-2","article-title":"Tumor-Associated Stromal Cells as Key Contributors to the Tumor Microenvironment","volume":"18","author":"Bussard","year":"2016","journal-title":"Breast Cancer Res. BCR"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"3000","DOI":"10.1016\/j.yexcr.2013.07.014","article-title":"Epithelial-to-Mesenchymal Transition in Fibrosis: Collagen Type I Expression Is Highly Upregulated after EMT, but Does Not Contribute to Collagen Deposition","volume":"319","author":"Hosper","year":"2013","journal-title":"Exp. Cell Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/(SICI)1097-0169(1997)38:3<250::AID-CM3>3.0.CO;2-9","article-title":"Fibroblast transgelin and smooth muscle SM22\u03b1 are the same protein, the expression of which is down-regulated in many cell lines","volume":"38","author":"Lawson","year":"1997","journal-title":"Cell Motil."},{"key":"ref_50","first-page":"1257","article-title":"Pseudosyndactyly\u2014An Inflammatory and Fibrotic Wound Healing Disorder in Recessive Dystrophic Epidermolysis Bullosa","volume":"13","author":"Breitenbach","year":"2015","journal-title":"JDDG J. Dtsch. Dermatol. Ges."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/ijc.32193","article-title":"In Search of Definitions: Cancer-Associated Fibroblasts and Their Markers","volume":"146","author":"Nurmik","year":"2020","journal-title":"Int. J. Cancer"},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Hsia, L., Ashley, N., Ouaret, D., Wang, L.M., Wilding, J., and Bodmer, W.F. (2016). Myofibroblasts Are Distinguished from Activated Skin Fibroblasts by the Expression of AOC3 and Other Associated Markers. Proc. Natl. Acad. Sci. USA.","DOI":"10.1073\/pnas.1603534113"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2381","DOI":"10.1038\/jid.2014.185","article-title":"Loss of Collagen VII Is Associated with Reduced Transglutaminase 2 Abundance and Activity","volume":"134","author":"Mack","year":"2014","journal-title":"J. Investig. Dermatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1164\/rccm.200708-1291OC","article-title":"An Essential Role for Fibronectin Extra Type III Domain A in Pulmonary Fibrosis","volume":"177","author":"Muro","year":"2008","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"49820","DOI":"10.1074\/jbc.M209891200","article-title":"PCOLCE2 Encodes a Functional Procollagen C-Proteinase Enhancer (PCPE2) That Is a Collagen-Binding Protein Differing in Distribution of Expression and Post-Translational Modification from the Previously Described PCPE1","volume":"277","author":"Steiglitz","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1097\/SAP.0b013e31826956f6","article-title":"Transcriptional Profiling of Rapamycin-Treated Fibroblasts From Hypertrophic and Keloid Scars","volume":"72","author":"Wong","year":"2014","journal-title":"Ann. Plast. Surg."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Tong, D.L., Kempsell, K.E., Szakmany, T., and Ball, G. (2020). Development of a Bioinformatics Framework for Identification and Validation of Genomic Biomarkers and Key Immunopathology Processes and Controllers in Infectious and Non-Infectious Severe Inflammatory Response Syndrome. Front. Immunol., 11.","DOI":"10.3389\/fimmu.2020.00380"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1016\/j.jid.2017.07.002","article-title":"Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration","volume":"137","author":"Alexeev","year":"2017","journal-title":"J. Investig. Dermatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"e1528","DOI":"10.1097\/MD.0000000000001528","article-title":"Proinflammatory Cytokines and Antiskin Autoantibodies in Patients with Inherited Epidermolysis Bullosa","volume":"94","author":"Annicchiarico","year":"2015","journal-title":"Medicine"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1186\/s13046-019-1277-x","article-title":"Epiregulin Reprograms Cancer-Associated Fibroblasts and Facilitates Oral Squamous Cell Carcinoma Invasion via JAK2-STAT3 Pathway","volume":"38","author":"Wang","year":"2019","journal-title":"J. Exp. Clin. Cancer Res. CR"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2911","DOI":"10.1002\/jcb.26483","article-title":"Epiregulin (EREG) Is Upregulated through an IL-1\u03b2 Autocrine Loop in Caco-2 Epithelial Cells with Reduced CFTR Function","volume":"119","author":"Clauzure","year":"2018","journal-title":"J. Cell. Biochem."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"6174","DOI":"10.1038\/s41598-017-06351-4","article-title":"Integrin \u03916\u03b24 Upregulates Amphiregulin and Epiregulin through Base Excision Repair-Mediated DNA Demethylation and Promotes Genome-Wide DNA Hypomethylation","volume":"7","author":"Carpenter","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"27228","DOI":"10.1074\/jbc.M115.686873","article-title":"Integrin \u03916\u03b24 Promotes Autocrine Epidermal Growth Factor Receptor (EGFR) Signaling to Stimulate Migration and Invasion toward Hepatocyte Growth Factor (HGF)","volume":"290","author":"Carpenter","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.matbio.2017.07.005","article-title":"Identification of a Myofibroblast-Specific Expression Signature in Skin Wounds","volume":"65","author":"Bergmeier","year":"2018","journal-title":"Matrix Biol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.jaci.2016.10.021","article-title":"Six-Transmembrane Epithelial Antigens of the Prostate Comprise a Novel Inflammatory Nexus in Patients with Pustular Skin Disorders","volume":"139","author":"Liang","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1089\/bio.2015.0104","article-title":"Comparison of Three Isolation Techniques for Human Peripheral Blood Mononuclear Cells: Cell Recovery and Viability, Population Composition, and Cell Functionality","volume":"14","author":"Grievink","year":"2016","journal-title":"Biopreserv. Biobank."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: An Open-Source Platform for Biological-Image Analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"24","DOI":"10.25208\/vdv1107","article-title":"The Reconstructed Human Epidermis In Vitro\u2014A Model for Basic and Applied Research of Human Skin","volume":"96","author":"Beilin","year":"2020","journal-title":"Vestn. Dermatol. Venerol."},{"key":"ref_69","first-page":"1189","article-title":"Tissue-Engineered Biological Dressing Accelerates Skin Wound Healing in Mice via Formation of Provisional Connective Tissue","volume":"33","author":"Chermnykh","year":"2018","journal-title":"Histol. Histopathol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2\u2212\u0394\u0394CT Method","volume":"4","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"ref_71","unstructured":"(2020, December 29). GitHub\u2013Nicjac\/PHANTAST-FIJI: Repository for the FIJI\/ImageJ Implementation of the Phase Contrast Microscopy Segmentation Toolbox (PHANTAST). Available online: https:\/\/github.com\/nicjac\/PHANTAST-FIJI."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"10","DOI":"10.14806\/ej.17.1.200","article-title":"Cutadapt Removes Adapter Sequences from High-Throughput Sequencing Reads","volume":"17","author":"Martin","year":"2011","journal-title":"EMBnet. J."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/s41587-019-0201-4","article-title":"Graph-Based Genome Alignment and Genotyping with HISAT2 and HISAT-Genotype","volume":"37","author":"Kim","year":"2019","journal-title":"Nat. Biotechnol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/nbt.3122","article-title":"StringTie Enables Improved Reconstruction of a Transcriptome from RNA-Seq Reads","volume":"33","author":"Pertea","year":"2015","journal-title":"Nat. Biotechnol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"EdgeR: A Bioconductor Package for Differential Expression Analysis of Digital Gene Expression Data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2010-11-3-r25","article-title":"A Scaling Normalization Method for Differential Expression Analysis of RNA-Seq Data","volume":"11","author":"Robinson","year":"2010","journal-title":"Genome Biol."},{"key":"ref_77","unstructured":"(2020, December 22). Reduce + Visualize GO. Available online: https:\/\/ssayols.github.io\/rrvgo\/."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/4\/1792\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:22:55Z","timestamp":1760160175000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/4\/1792"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,11]]},"references-count":77,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["ijms22041792"],"URL":"https:\/\/doi.org\/10.3390\/ijms22041792","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,11]]}}}