{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:24:39Z","timestamp":1782879879888,"version":"3.54.5"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Matrix Biology"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1016\/j.matbio.2021.05.002","type":"journal-article","created":{"date-parts":[[2021,5,15]],"date-time":"2021-05-15T20:01:06Z","timestamp":1621108866000},"page":"43-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation"],"prefix":"10.1016","volume":"99","author":[{"given":"Hassan","family":"Vahidnezhad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4253-6503","authenticated-orcid":false,"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn M","family":"Boyden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4632-4986","authenticated-orcid":false,"given":"Andrew","family":"Touati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nailah","family":"Harvey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9904-1053","authenticated-orcid":false,"given":"Mahtab","family":"Naji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7372-6318","authenticated-orcid":false,"given":"Masoud","family":"Zabihi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Barzegar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Sotoudeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1199-5395","authenticated-orcid":false,"given":"Alyson","family":"Guy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2080-9582","authenticated-orcid":false,"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A","family":"Choate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.matbio.2021.05.002_bib0001","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.a.33807","article-title":"Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia","volume":"155A","author":"Clericuzio","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.matbio.2021.05.002_bib0002","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0003","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.matbio.2016.07.009","article-title":"Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa","volume":"57-58","author":"Uitto","year":"2017","journal-title":"Matrix Biol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0004","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.matbio.2018.04.001","article-title":"Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone","volume":"71-72","author":"Has","year":"2018","journal-title":"Matrix Biol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0005","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.jid.2018.10.017","article-title":"Phenotypic spectrum of epidermolysis bullosa: The paradigm of syndromic versus non-syndromic skin fragility disorders","volume":"139","author":"Vahidnezhad","year":"2019","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0006","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.matbio.2018.07.001","article-title":"Constitutional absence of epithelial integrin alpha3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes","volume":"74","author":"He","year":"2018","journal-title":"Matrix Biol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0007","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.matbio.2018.10.003","article-title":"Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring","volume":"80","author":"Kroeger","year":"2019","journal-title":"Matrix Biol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0008","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.matbio.2018.11.006","article-title":"Mutations in PLOD3, encoding lysyl hydroxylase 3, cause syndromic recessive dystrophic epidermolyis bullosa-like phenotype with abnormal anchoring fibrils and deficiency in type VII collagen","volume":"81","author":"Vahidnezhad","year":"2019","journal-title":"Matrix Biol."},{"issue":"6","key":"10.1016\/j.matbio.2021.05.002_bib0009","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"J. Am. Acad. Dermatol."},{"issue":"1","key":"10.1016\/j.matbio.2021.05.002_bib0010","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s13023-019-1158-6","article-title":"Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients","volume":"14","author":"Guerrero-Aspizua","year":"2019","journal-title":"Orphanet. J. Rare. Dis."},{"key":"10.1016\/j.matbio.2021.05.002_bib0011","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1080\/21678707.2016.1207519","article-title":"Kindler syndrome, an orphan disease of cell\/matrix adhesion in the skin - molecular genetics and therapeutic opportunities","volume":"4","author":"Youssefian","year":"2016","journal-title":"Expert Opin. Orphan Drugs"},{"issue":"2","key":"10.1016\/j.matbio.2021.05.002_bib0012","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/nmeth.3739","article-title":"The mutation significance cutoff: gene-level thresholds for variant predictions","volume":"13","author":"Itan","year":"2016","journal-title":"Nat. Methods"},{"issue":"21","key":"10.1016\/j.matbio.2021.05.002_bib0013","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1002\/ajmg.a.32524","article-title":"Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco","volume":"146A","author":"Mostefai","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.matbio.2021.05.002_bib0014","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1261\/rna.065136.117","article-title":"The life of U6 small nuclear RNA, from cradle to grave","volume":"24","author":"Didychuk","year":"2018","journal-title":"RNA"},{"issue":"13","key":"10.1016\/j.matbio.2021.05.002_bib0015","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1111\/febs.14104","article-title":"Stimulation of Pol III-dependent 5S rRNA and U6 snRNA gene expression by AP-1 transcription factors","volume":"284","author":"Ahuja","year":"2017","journal-title":"FEBS J."},{"issue":"5","key":"10.1016\/j.matbio.2021.05.002_bib0016","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."},{"key":"10.1016\/j.matbio.2021.05.002_bib0017","doi-asserted-by":"crossref","first-page":"2649","DOI":"10.1016\/j.jid.2017.07.830","article-title":"Multigene next generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: Subclassification with prognostic implications","volume":"137","author":"Vahidnezhad","year":"2017","journal-title":"J. Invest. Dermatol."},{"issue":"3","key":"10.1016\/j.matbio.2021.05.002_bib0018","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1016\/j.jid.2016.10.023","article-title":"Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages","volume":"137","author":"Vahidnezhad","year":"2017","journal-title":"J. Invest. Dermatol."},{"issue":"5","key":"10.1016\/j.matbio.2021.05.002_bib0019","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1038\/jid.2015.9","article-title":"The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families","volume":"135","author":"Youssefian","year":"2015","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0020","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.matbio.2017.11.003","article-title":"Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy","volume":"66","author":"Vahidnezhad","year":"2018","journal-title":"Matrix Biol."},{"key":"10.1016\/j.matbio.2021.05.002_bib0021","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.jid.2018.06.170","article-title":"Research techniques made simple: Genome-wide homozygosity\/autozygosity mapping is a powerful tool to identify candidate genes in autosomal recessive genetic diseases","volume":"138","author":"Vahidnezhad","year":"2018","journal-title":"J. Invest. Dermatol."},{"issue":"10","key":"10.1016\/j.matbio.2021.05.002_bib0022","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1111\/exd.13501","article-title":"Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa","volume":"28","author":"Vahidnezhad","year":"2019","journal-title":"Exp Derm"},{"issue":"2","key":"10.1016\/j.matbio.2021.05.002_bib0023","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsdottir","year":"2013","journal-title":"Brief. Bioinform."},{"issue":"6","key":"10.1016\/j.matbio.2021.05.002_bib0024","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1016\/j.jid.2020.02.032","article-title":"Research Techniques Made Simple: Whole-transcriptome sequencing by RNA-Seq for diagnosis of monogenic disorders","volume":"140","author":"Saeidian","year":"2020","journal-title":"J. Invest. Dermatol."},{"issue":"W1","key":"10.1016\/j.matbio.2021.05.002_bib0025","article-title":"Whole-transcriptome analysis by rna-seq for genetic diagnosis of mendelian skin disorders in the context of consanguinity","author":"Youssefian","year":"2021","journal-title":"Clin Chem"},{"issue":"4","key":"10.1016\/j.matbio.2021.05.002_bib0026","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.3317","article-title":"HISAT: a fast spliced aligner with low memory requirements","volume":"12","author":"Kim","year":"2015","journal-title":"Nat. Methods"},{"issue":"9","key":"10.1016\/j.matbio.2021.05.002_bib0027","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1038\/nprot.2016.095","article-title":"Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown","volume":"11","author":"Pertea","year":"2016","journal-title":"Nat. Protoc."},{"issue":"1","key":"10.1016\/j.matbio.2021.05.002_bib0028","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1186\/s12859-018-2486-6","article-title":"iDEP: an integrated web application for differential expression and pathway analysis of RNA-Seq data","volume":"19","author":"Ge","year":"2018","journal-title":"BMC Bioinformatics"},{"issue":"W1","key":"10.1016\/j.matbio.2021.05.002_bib0029","doi-asserted-by":"crossref","first-page":"W130","DOI":"10.1093\/nar\/gkx356","article-title":"WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit","volume":"45","author":"Wang","year":"2017","journal-title":"Nucleic. Acids. Res."},{"key":"10.1016\/j.matbio.2021.05.002_bib0030","doi-asserted-by":"crossref","first-page":"6682","DOI":"10.1074\/jbc.M109209200","article-title":"Novel alternative splicings of bpag1 (bullous pemphigoid antigen 1) including the domain structure closely related to macf (microtubule actin cross-linking factor)","volume":"27","author":"Okumura","year":"2002","journal-title":"J Biol Chem"}],"container-title":["Matrix Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0945053X21000421?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0945053X21000421?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T19:01:38Z","timestamp":1760554898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0945053X21000421"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":30,"alternative-id":["S0945053X21000421"],"URL":"https:\/\/doi.org\/10.1016\/j.matbio.2021.05.002","relation":{},"ISSN":["0945-053X"],"issn-type":[{"value":"0945-053X","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation","name":"articletitle","label":"Article Title"},{"value":"Matrix Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.matbio.2021.05.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}