{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:33:03Z","timestamp":1776832383250,"version":"3.51.2"},"reference-count":26,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2021,5,31]]},"DOI":"10.5582\/irdr.2020.03150","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T22:06:23Z","timestamp":1616018783000},"page":"88-94","source":"Crossref","is-referenced-by-count":6,"title":["Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients"],"prefix":"10.5582","volume":"10","author":[{"given":"Suci","family":"Widhiati","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia."},{"name":"Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Retno","family":"Danarti","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niken","family":"Trisnowati","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dewajani","family":"Purnomosari","sequence":"additional","affiliation":[{"name":"Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia."},{"name":"Department of Histology and Cell Biology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tri","family":"Wibawa","sequence":"additional","affiliation":[{"name":"Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia."},{"name":"Department of Microbiology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hardyanto","family":"Soebono","sequence":"additional","affiliation":[{"name":"Doctoral Study Program, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia."},{"name":"Department of Dermatology and Venereology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010; 5:12.","DOI":"10.1186\/1750-1172-5-12"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Fine JD, Bruckner-Tuderman L, Eady RA, <i>et al.<\/i> Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014; 70:1103-1126.","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatr Dermatol. 2018; 35:188-197.","DOI":"10.1111\/pde.13392"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Has C, Fischer J. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Exp Dermatol. 2019; 28:1146-1152.","DOI":"10.1111\/exd.13668"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol. 2015; 172:94-100.","DOI":"10.1111\/bjd.13190"},{"key":"6","unstructured":"6. Diana IA. DEBRA Indonesia, chalenges and inovation. Group PDS, ed. PERDOSKI, Surabaya, 2018."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Yenamandra VK, Moss C, Sreenivas V, Khan M, Sivasubbu S, Sharma VK, Sethuraman G. Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa. Br J Dermatol. 2017; 176:1624-1632.","DOI":"10.1111\/bjd.15221"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010; 38:e164.","DOI":"10.1093\/nar\/gkq603"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol. 1996; 106:781-784.","DOI":"10.1111\/1523-1747.ep12346349"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Siegel DH, Ashton GH, Penagos HG, <i>et al.<\/i> Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003; 73:174-187.","DOI":"10.1086\/376609"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat. 1997; 10:408-414.","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Niguidula N, Alamillo C, Shahmirzadi Mowlavi L, Powis Z, Cohen JS, Farwell Hagman KD. Clinical whole-exome sequencing results impact medical management. Mol Genet Genomic Med. 2018; 6:1068-1078.","DOI":"10.1002\/mgg3.484"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Hamilton A, Tetreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT, Consortium FC, Care4Rare Canada C, Hartley T, Boycott KM. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Mol Genet Genomic Med. 2016; 4:504-512.","DOI":"10.1002\/mgg3.223"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Halim-Fikri H, Etemad A, Abdul Latif AZ, <i>et al.<\/i> The first Malay database toward the ethnic-specific target molecular variation. BMC Res Notes. 2015; 8:176.","DOI":"10.1186\/s13104-015-1123-y"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011; 32:1204-1212.","DOI":"10.1002\/humu.21576"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol. 2009; 175:1431-1441.","DOI":"10.2353\/ajpath.2009.081154"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Lu S, Wang J, Chitsaz F, <i>et al.<\/i> CDD\/SPARCLE: the conserved domain database in 2020. Nucleic Acids Res. 2020; 48:D265-D268.","DOI":"10.1093\/nar\/gkz991"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Milenkovic D, Chaffaux S, Taourit S, Guerin G. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genet Sel Evol. 2003; 35:249-256.","DOI":"10.1186\/1297-9686-35-2-249"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. J Dermatol Sci. 2017; 86:30-36.","DOI":"10.1016\/j.jdermsci.2016.12.020"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Murata T, Masunaga T, Ishiko A, Shimizu H, Nishikawa T. Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations. Arch Dermatol Res. 2004; 295:442-447.","DOI":"10.1007\/s00403-003-0444-1"},{"key":"21","unstructured":"21. Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X.Five novel COL7A1 gene mutations in three Chinese patients with recessive dystrophic epidermolysis bullosa. Ann Clin Lab Sci. 2018; 48:100-105."},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br J Dermatol. 2003; 149:810-818.","DOI":"10.1046\/j.1365-2133.2003.05315.x"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2006; 126:1006-1012.","DOI":"10.1038\/sj.jid.5700219"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Abu Sa&apos;d J, Indelman M, Pfendner E, <i>et al.<\/i> Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol. 2006; 126:777-781.","DOI":"10.1038\/sj.jid.5700163"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Diana IA, Gondokaryono SP, Dwiyana RF, Rahardja JI, Yogya Y, Gunawan H. Intrafamilial diversity of clinical severity of epidermolysis bullosa: case series of three generations. The Open Dermatology Journal. 2019; 13:3-7.","DOI":"10.2174\/1874372201913010003"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Bishnoi P, Ng YZ, Wei H, Tan E-C, Lunny DP, Wong XFCC, Fon LK, Gondokaryono SP, Diana IA, Common JEA, Koh MJA, Lane EB. Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia. Am J Med Genet. 2021; 185:625-630.","DOI":"10.1002\/ajmg.a.61975"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/10\/2\/10_2020.03150\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T03:08:24Z","timestamp":1622862504000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/10\/2\/10_2020.03150\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,31]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2020.03150","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5,31]]}}}