{"id":"https://openalex.org/W4416734324","doi":"https://doi.org/10.1007/s11033-025-11257-w","title":"A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review","display_name":"A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review","publication_year":2025,"publication_date":"2025-11-27","ids":{"openalex":"https://openalex.org/W4416734324","doi":"https://doi.org/10.1007/s11033-025-11257-w","pmid":"https://pubmed.ncbi.nlm.nih.gov/41307748"},"language":"en","primary_location":{"id":"doi:10.1007/s11033-025-11257-w","doi":"https://doi.org/10.1007/s11033-025-11257-w","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-025-11257-w","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091151068","display_name":"C\u00fcneyd Yava\u015f","orcid":"https://orcid.org/0000-0002-1597-5922","observed_orcids":["https://orcid.org/0000-0002-1597-5922"]},"institutions":[{"id":"https://openalex.org/I4210104933","display_name":"Biruni University","ror":"https://ror.org/01nkhmn89","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210104933"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Cuneyd Yavas","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey. cyavas@biruni.edu.trAs","Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey. cyavas@biruni.edu.trAs","institution_ids":["https://openalex.org/I4210104933"]},{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210104933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5120064130","display_name":"Emir Nekay","orcid":"https://orcid.org/0009-0001-2389-0486","observed_orcids":["https://orcid.org/0009-0001-2389-0486"]},"institutions":[{"id":"https://openalex.org/I4210104933","display_name":"Biruni University","ror":"https://ror.org/01nkhmn89","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210104933"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Emir Nekay","raw_affiliation_strings":["Department of General Surgery, Faculty of Medicine, Biruni University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of General Surgery, Faculty of Medicine, Biruni University, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210104933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073067781","display_name":"Asmaa Mahmoud Abuaisha","orcid":"https://orcid.org/0000-0003-2869-6620","observed_orcids":["https://orcid.org/0000-0003-2869-6620"]},"institutions":[{"id":"https://openalex.org/I4210104933","display_name":"Biruni University","ror":"https://ror.org/01nkhmn89","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210104933"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Asmaa Abuaisha","raw_affiliation_strings":["Biruni University Research Center B@MER, Biruni University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biruni University Research Center B@MER, Biruni University, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210104933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093756213","display_name":"Yusuf \u015eeflek\u00e7i","orcid":"https://orcid.org/0000-0002-5990-9628","observed_orcids":["https://orcid.org/0000-0002-5990-9628"]},"institutions":[{"id":"https://openalex.org/I4210104933","display_name":"Biruni University","ror":"https://ror.org/01nkhmn89","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210104933"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Yusuf Seflekci","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210104933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093942715","display_name":"K\u00fcbra T\u00fcreg\u00fcn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4101805","display_name":"Y\u0131ld\u0131z Technical University","ror":"https://ror.org/0547yzj13","country_code":"TR","type":"education","lineage":["https://openalex.org/I4101805"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Kubra Turegun","raw_affiliation_strings":["Department of Biotechnology Institute of Science and Technology, Y\u0131ld\u0131z Technical University, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology Institute of Science and Technology, Y\u0131ld\u0131z Technical University, Istanbul, Turkey","institution_ids":["https://openalex.org/I4101805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090914446","display_name":"Zafer T\u00fcrko\u011flu","orcid":"https://orcid.org/0000-0002-4357-6646","observed_orcids":["https://orcid.org/0000-0002-4357-6646","https://orcid.org/0000-0002-3392-3560"]},"institutions":[{"id":"https://openalex.org/I4210128276","display_name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","ror":"https://ror.org/03k7bde87","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210128276"]},{"id":"https://openalex.org/I4387153495","display_name":"\u0130stanbul Ba\u015fak\u015fehir \u00c7am ve Sakura \u015eehir Hastanesi","ror":"https://ror.org/05grcz969","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4387153495"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Zafer Turkoglu","raw_affiliation_strings":["Department of Skin and Venereal Diseases, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital University of Health Sciences, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Skin and Venereal Diseases, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital University of Health Sciences, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210128276","https://openalex.org/I4387153495"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114966825","display_name":"Eri\u015fcan Melih K\u0131rsoy","orcid":"https://orcid.org/0009-0004-0166-8261","observed_orcids":["https://orcid.org/0009-0004-0166-8261"]},"institutions":[{"id":"https://openalex.org/I4210128276","display_name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","ror":"https://ror.org/03k7bde87","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210128276"]},{"id":"https://openalex.org/I4387153495","display_name":"\u0130stanbul Ba\u015fak\u015fehir \u00c7am ve Sakura \u015eehir Hastanesi","ror":"https://ror.org/05grcz969","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4387153495"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Eriscan Melih Kirsoy","raw_affiliation_strings":["Department of Skin and Venereal Diseases, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital University of Health Sciences, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Skin and Venereal Diseases, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital University of Health Sciences, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210128276","https://openalex.org/I4387153495"]}]},{"author_position":"last","author":{"id":null,"display_name":"Mustafa Dogan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210128276","display_name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","ror":"https://ror.org/03k7bde87","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210128276"]},{"id":"https://openalex.org/I4387153495","display_name":"\u0130stanbul Ba\u015fak\u015fehir \u00c7am ve Sakura \u015eehir Hastanesi","ror":"https://ror.org/05grcz969","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4387153495"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mustafa Dogan","raw_affiliation_strings":["Department of Genetics, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey","institution_ids":["https://openalex.org/I4210128276","https://openalex.org/I4387153495"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5091151068"],"corresponding_institution_ids":["https://openalex.org/I4210104933"],"apc_list":{"value":4290,"currency":"USD","value_usd":4290},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.30249934,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"53","issue":"1","first_page":"129","last_page":"129"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9429000020027161,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9429000020027161,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.053199999034404755,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0026000000070780516,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/vohwinkel-syndrome","display_name":"Vohwinkel syndrome","score":0.8880000114440918},{"id":"https://openalex.org/keywords/palmoplantar-keratoderma","display_name":"palmoplantar keratoderma","score":0.9800000190734863},{"id":"https://openalex.org/keywords/transglutaminase-3","display_name":"transglutaminase 3","score":0.9190000295639038},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.7409999966621399},{"id":"https://openalex.org/keywords/autosomal-dominant-skin-disorder","display_name":"autosomal dominant skin disorder","score":0.7580000162124634},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.42500001192092896},{"id":"https://openalex.org/keywords/turkish-patients","display_name":"Turkish patients","score":0.5109999775886536}],"concepts":[{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.8974000215530396},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6687999963760376},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.579200029373169},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5760999917984009},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5694000124931335},{"id":"https://openalex.org/C2781121862","wikidata":"https://www.wikidata.org/wiki/Q256","display_name":"Turkish","level":2,"score":0.5277000069618225},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5231999754905701},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.47369998693466187},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41029998660087585},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3971000015735626},{"id":"https://openalex.org/C2776008674","wikidata":"https://www.wikidata.org/wiki/Q18028628","display_name":"Loricrin","level":5,"score":0.3476000130176544},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3116999864578247},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.3034999966621399},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.2953000068664551},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.2734000086784363},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.26739999651908875},{"id":"https://openalex.org/C2778817970","wikidata":"https://www.wikidata.org/wiki/Q7855390","display_name":"Turkish population","level":4,"score":0.25609999895095825}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006228","descriptor_name":"Hand Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014421","descriptor_name":"Turkey","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s11033-025-11257-w","doi":"https://doi.org/10.1007/s11033-025-11257-w","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-025-11257-w","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","raw_type":"journal-article"},{"id":"pmid:41307748","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41307748","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular biology reports","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W1595796602","https://openalex.org/W1608814355","https://openalex.org/W1787433773","https://openalex.org/W1930636115","https://openalex.org/W1975191994","https://openalex.org/W1987134040","https://openalex.org/W1996989531","https://openalex.org/W1998384574","https://openalex.org/W2012803082","https://openalex.org/W2017609866","https://openalex.org/W2018608811","https://openalex.org/W2021250032","https://openalex.org/W2040570413","https://openalex.org/W2047058219","https://openalex.org/W2055668545","https://openalex.org/W2056211304","https://openalex.org/W2095186267","https://openalex.org/W2113796519","https://openalex.org/W2130479394","https://openalex.org/W2132629607","https://openalex.org/W2134098588","https://openalex.org/W2136216737","https://openalex.org/W2139915497","https://openalex.org/W2169773700","https://openalex.org/W2508088339","https://openalex.org/W2894469244","https://openalex.org/W2911735808","https://openalex.org/W2979398908","https://openalex.org/W2979751891","https://openalex.org/W3013171423","https://openalex.org/W3080484701","https://openalex.org/W3217576237","https://openalex.org/W4220678247","https://openalex.org/W4224526845","https://openalex.org/W4231617711","https://openalex.org/W4281698985","https://openalex.org/W4380075638","https://openalex.org/W4387664687","https://openalex.org/W4391883553","https://openalex.org/W4402090006","https://openalex.org/W4404993538","https://openalex.org/W4408620647"],"related_works":["https://openalex.org/W2055668545","https://openalex.org/W2158981460","https://openalex.org/W2040570413","https://openalex.org/W7128298935","https://openalex.org/W1967480399","https://openalex.org/W1560617385","https://openalex.org/W7062357833","https://openalex.org/W1984702920","https://openalex.org/W2596665114","https://openalex.org/W2085468751"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-11-28T00:00:00"}