Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/54801
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dc.contributor.authorTokgun, Pervin Elvan-
dc.contributor.authorKaragenc, Nedim-
dc.contributor.authorKarasu, Uğur-
dc.contributor.authorTokgun, Onur-
dc.contributor.authorTurel, Samet-
dc.contributor.authorDemıray, Aydın-
dc.contributor.authorYüksel, Selçuk-
dc.date.accessioned2023-11-18T09:29:22Z-
dc.date.available2023-11-18T09:29:22Z-
dc.date.issued2023-
dc.identifier.issn2148-5046-
dc.identifier.issn2618-6500-
dc.identifier.urihttps://doi.org/10.46497/ArchRheumatol.2023.9927-
dc.identifier.urihttps://search.trdizin.gov.tr/en/yayin/detay/1252750/treatment-of-sting-associated-vasculopathy-with-onset-in-infancy-in-patients-carrying-a-novel-mutation-in-the-tmem173-gene-with-the-jak3-inhibitor-tofacitinib-
dc.description.abstractObjectives: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. Patients and methods: A clinical exome sequencing analysis was performed in 10 individuals in the same family using the Sophia Genetics clinical exome solution kit. Results: A novel V194L mutation in the TMEM173 gene was identified in three members of the family. Two of the family members were treated with the JAK3 inhibitor tofacitinib and recovered completely one month after the treatment. Conclusion: The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib.en_US
dc.language.isoenen_US
dc.publisherTurkish League Against Rheumatism (TLAR)en_US
dc.relation.ispartofArchives of Rheumatologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectTıbbi İnformatiken_US
dc.subjectPatolojien_US
dc.subjectOnkolojien_US
dc.subjectToksikolojien_US
dc.subjectRomatolojien_US
dc.subjectFarmakoloji Ve Eczacılıken_US
dc.titleTreatment of Sting-Associated Vasculopathy With Onset in Infancy in Patients Carrying a Novel Mutation in the Tmem173 Gene With the Jak3-Inhibitor Tofacitiniben_US
dc.typeArticleen_US
dc.identifier.volume38en_US
dc.identifier.issue3en_US
dc.identifier.startpage461en_US
dc.identifier.endpage467en_US
dc.departmentPamukkale Universityen_US
dc.identifier.doi10.46497/ArchRheumatol.2023.9927-
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopus2-s2.0-85172233743en_US
dc.identifier.scopus2-s2.0-85172233743-
dc.identifier.trdizinid1252750-
dc.identifier.wosWOS:001108061700017en_US
dc.identifier.wosWOS:001108061700017-
dc.institutionauthor…-
dc.identifier.scopusqualityQ3-
dc.identifier.wosqualityQ4-
item.languageiso639-1en-
item.openairetypeArticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
item.grantfulltextopen-
item.cerifentitytypePublications-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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