Arterial tortuosity syndrome: 40 new families and literature review

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dc.contributor.buuauthorBostan, Özlem Mehtap
dc.contributor.buuauthorTemel, Şehime Gülsün
dc.contributor.buuauthorUysal, Fahrettin
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik Kardiyoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-7707-2174tr_TR
dc.contributor.orcid0000-0002-9802-0880tr_TR
dc.contributor.researcheridAAG-8558-2021tr_TR
dc.contributor.researcheridAAG-8385-2021tr_TR
dc.contributor.researcheridAAH-4421-2021tr_TR
dc.contributor.scopusid8676936500tr_TR
dc.contributor.scopusid6507885442tr_TR
dc.contributor.scopusid24469008200tr_TR
dc.date.accessioned2022-12-23T13:44:35Z
dc.date.available2022-12-23T13:44:35Z
dc.date.issued2018-01-11
dc.descriptionÇalışmada 64 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.tr_TR
dc.description.abstractPurpose: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10. Methods: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-beta signaling with immunohistochemistry for pSMAD2 and CTGF. Results: Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-beta signaling. Conclusion: Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.en_US
dc.description.sponsorshipDeanship of Scientific Research, King Saud University, Riyadh, Saudi Arabia (RGP-VPP-301)en_US
dc.description.sponsorshipSpecial Research Fund, Flanders of Ghent University (01N04516)en_US
dc.description.sponsorshipNatural Sciences and Engineering Research Council of Canada (NSERC) CGIAR (NSERC RGPIN 355710)en_US
dc.description.sponsorshipGhent University (BOF14/01M01108)en_US
dc.description.sponsorshipFWO (FWOOPR2013025301)en_US
dc.identifier.citationBeyens, A. vd. (2018). ''Arterial tortuosity syndrome: 40 new families and literature review''. Genetics in Medicine, 20(10), 1236-1245.en_US
dc.identifier.endpage1245tr_TR
dc.identifier.issn1098-3600
dc.identifier.issn1530-0366
dc.identifier.issue10tr_TR
dc.identifier.pubmed29323665tr_TR
dc.identifier.scopus2-s2.0-85055937725tr_TR
dc.identifier.startpage1236tr_TR
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S1098360021046773
dc.identifier.urihttps://doi.org/10.1038/gim.2017.253
dc.identifier.urihttp://hdl.handle.net/11452/30071
dc.identifier.volume20tr_TR
dc.identifier.wos000448665700017tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalGenetics in Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAneurysmen_US
dc.subjectArterial tortuosity syndromeen_US
dc.subjectElectron microscopyen_US
dc.subjectGLUT10en_US
dc.subjectRecessive cutis laxaen_US
dc.subjectMarfan-syndromeen_US
dc.subjectMutationsen_US
dc.subjectPulmonaryen_US
dc.subjectSLC2A10en_US
dc.subjectVesselsen_US
dc.subjectSystemen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeConnective tissue growth factoren_US
dc.subject.emtreeSmad2 proteinen_US
dc.subject.emtreeConnective tissue growth factoren_US
dc.subject.emtreeCTGF protein, humanen_US
dc.subject.emtreeGlucose transporteren_US
dc.subject.emtreeSLC2A10 protein, humanen_US
dc.subject.emtreeSmad2 proteinen_US
dc.subject.emtreeSMAD2 protein, humanen_US
dc.subject.emtreeTransforming growth factor betaen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAortic aneurysmen_US
dc.subject.emtreeAortic stenosisen_US
dc.subject.emtreeArterial tortuosity syndromeen_US
dc.subject.emtreeReviewen_US
dc.subject.emtreeAutosomal recessive disorderen_US
dc.subject.emtreeBlood vessel biopsyen_US
dc.subject.emtreeBrain hemorrhageen_US
dc.subject.emtreeBrain ischemiaen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeCollagen synthesisen_US
dc.subject.emtreeConnective tissue diseaseen_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeDiaphragm herniaen_US
dc.subject.emtreeElastic fiberen_US
dc.subject.emtreeElectron microscopyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFibrilen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeHistologyen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman cellen_US
dc.subject.emtreeHuman tissueen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMesenteric artery occlusionen_US
dc.subject.emtreeMolecular geneticsen_US
dc.subject.emtreeNeonatal hemorrhageen_US
dc.subject.emtreeNeonatal respiratory distress syndromeen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreePulmonary artery stenosisen_US
dc.subject.emtreePylorus stenosisen_US
dc.subject.emtreeSkin biopsyen_US
dc.subject.emtreeSLC2A10 geneen_US
dc.subject.emtreeStomach perforationen_US
dc.subject.emtreeTGF beta signalingen_US
dc.subject.emtreeVascular tissueen_US
dc.subject.emtreeAbnormalitiesen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAortaen_US
dc.subject.emtreeArteryen_US
dc.subject.emtreeBiopsyen_US
dc.subject.emtreeCongenital blood vessel malformationen_US
dc.subject.emtreeDiagnostic imagingen_US
dc.subject.emtreeDiaphragm herniaen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeJoint instabilityen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreeNeonatal respiratory distress syndromeen_US
dc.subject.emtreePathologyen_US
dc.subject.emtreePathophysiologyen_US
dc.subject.emtreePedigreeen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreeSkinen_US
dc.subject.emtreeSkin diseaseen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAortaen_US
dc.subject.meshArteriesen_US
dc.subject.meshBiopsyen_US
dc.subject.meshChilden_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshConnective tissue growth factoren_US
dc.subject.meshFemaleen_US
dc.subject.meshGlucose transport proteins, facilitativeen_US
dc.subject.meshHernia, diaphragmaticen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshJoint instabilityen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRespiratory distress syndrome, newbornen_US
dc.subject.meshSkinen_US
dc.subject.meshSkin diseases, geneticen_US
dc.subject.meshSmad2 proteinen_US
dc.subject.meshTransforming growth factor betaen_US
dc.subject.meshVascular malformationsen_US
dc.subject.scopusCutis Laxa; Arterial Tortuosity Syndrome; Mutationen_US
dc.subject.wosGenetics & heredityen_US
dc.titleArterial tortuosity syndrome: 40 new families and literature reviewen_US
dc.typeReview
dc.wos.quartileQ1en_US

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