Publication:
Arterial tortuosity syndrome: 40 new families and literature review

dc.contributor.buuauthorBostan, Özlem Mehtap
dc.contributor.buuauthorTemel, Şehime Gülsün
dc.contributor.buuauthorUysal, Fahrettin
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentHistoloji ve Embriyoloji Ana Bilim Dalı
dc.contributor.departmentPediatrik Kardiyoloji Ana Bilim Dalı
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.orcid0000-0001-7707-2174
dc.contributor.orcid0000-0002-9802-0880
dc.contributor.researcheridAAG-8558-2021
dc.contributor.researcheridAAG-8385-2021
dc.contributor.researcheridAAH-4421-2021
dc.contributor.scopusid8676936500
dc.contributor.scopusid6507885442
dc.contributor.scopusid24469008200
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.
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.
dc.description.sponsorshipDeanship of Scientific Research, King Saud University, Riyadh, Saudi Arabia (RGP-VPP-301)
dc.description.sponsorshipSpecial Research Fund, Flanders of Ghent University (01N04516)
dc.description.sponsorshipNatural Sciences and Engineering Research Council of Canada (NSERC) CGIAR (NSERC RGPIN 355710)
dc.description.sponsorshipGhent University (BOF14/01M01108)
dc.description.sponsorshipFWO (FWOOPR2013025301)
dc.identifier.citationBeyens, A. vd. (2018). ''Arterial tortuosity syndrome: 40 new families and literature review''. Genetics in Medicine, 20(10), 1236-1245.
dc.identifier.endpage1245
dc.identifier.issn1098-3600
dc.identifier.issn1530-0366
dc.identifier.issue10
dc.identifier.pubmed29323665
dc.identifier.scopus2-s2.0-85055937725
dc.identifier.startpage1236
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.volume20
dc.identifier.wos000448665700017
dc.indexed.scopusScopus
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.collaborationYurt dışı
dc.relation.collaborationYurt içi
dc.relation.collaborationSanayi
dc.relation.journalGenetics in Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAneurysm
dc.subjectArterial tortuosity syndrome
dc.subjectElectron microscopy
dc.subjectGLUT10
dc.subjectRecessive cutis laxa
dc.subjectMarfan-syndrome
dc.subjectMutations
dc.subjectPulmonary
dc.subjectSLC2A10
dc.subjectVessels
dc.subjectSystem
dc.subjectGenetics & heredity
dc.subject.emtreeConnective tissue growth factor
dc.subject.emtreeSmad2 protein
dc.subject.emtreeConnective tissue growth factor
dc.subject.emtreeCTGF protein, human
dc.subject.emtreeGlucose transporter
dc.subject.emtreeSLC2A10 protein, human
dc.subject.emtreeSmad2 protein
dc.subject.emtreeSMAD2 protein, human
dc.subject.emtreeTransforming growth factor beta
dc.subject.emtreeAdult
dc.subject.emtreeAortic aneurysm
dc.subject.emtreeAortic stenosis
dc.subject.emtreeArterial tortuosity syndrome
dc.subject.emtreeReview
dc.subject.emtreeAutosomal recessive disorder
dc.subject.emtreeBlood vessel biopsy
dc.subject.emtreeBrain hemorrhage
dc.subject.emtreeBrain ischemia
dc.subject.emtreeChild
dc.subject.emtreeClinical article
dc.subject.emtreeClinical feature
dc.subject.emtreeCollagen synthesis
dc.subject.emtreeConnective tissue disease
dc.subject.emtreeControlled study
dc.subject.emtreeDiaphragm hernia
dc.subject.emtreeElastic fiber
dc.subject.emtreeElectron microscopy
dc.subject.emtreeFemale
dc.subject.emtreeFibril
dc.subject.emtreeGene
dc.subject.emtreeGene mutation
dc.subject.emtreeHistology
dc.subject.emtreeHuman
dc.subject.emtreeHuman cell
dc.subject.emtreeHuman tissue
dc.subject.emtreeInfant
dc.subject.emtreeMale
dc.subject.emtreeMesenteric artery occlusion
dc.subject.emtreeMolecular genetics
dc.subject.emtreeNeonatal hemorrhage
dc.subject.emtreeNeonatal respiratory distress syndrome
dc.subject.emtreeNucleotide sequence
dc.subject.emtreePhenotype
dc.subject.emtreePulmonary artery stenosis
dc.subject.emtreePylorus stenosis
dc.subject.emtreeSkin biopsy
dc.subject.emtreeSLC2A10 gene
dc.subject.emtreeStomach perforation
dc.subject.emtreeTGF beta signaling
dc.subject.emtreeVascular tissue
dc.subject.emtreeAbnormalities
dc.subject.emtreeAdolescent
dc.subject.emtreeAorta
dc.subject.emtreeArtery
dc.subject.emtreeBiopsy
dc.subject.emtreeCongenital blood vessel malformation
dc.subject.emtreeDiagnostic imaging
dc.subject.emtreeDiaphragm hernia
dc.subject.emtreeGenetics
dc.subject.emtreeJoint instability
dc.subject.emtreeMutation
dc.subject.emtreeNeonatal respiratory distress syndrome
dc.subject.emtreePathology
dc.subject.emtreePathophysiology
dc.subject.emtreePedigree
dc.subject.emtreePreschool child
dc.subject.emtreeSkin
dc.subject.emtreeSkin disease
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAorta
dc.subject.meshArteries
dc.subject.meshBiopsy
dc.subject.meshChild
dc.subject.meshChild, preschool
dc.subject.meshConnective tissue growth factor
dc.subject.meshFemale
dc.subject.meshGlucose transport proteins, facilitative
dc.subject.meshHernia, diaphragmatic
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshJoint instability
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshRespiratory distress syndrome, newborn
dc.subject.meshSkin
dc.subject.meshSkin diseases, genetic
dc.subject.meshSmad2 protein
dc.subject.meshTransforming growth factor beta
dc.subject.meshVascular malformations
dc.subject.scopusCutis Laxa; Arterial Tortuosity Syndrome; Mutation
dc.subject.wosGenetics & heredity
dc.titleArterial tortuosity syndrome: 40 new families and literature review
dc.typeReview
dc.wos.quartileQ1
dc.wos.quartileQ1
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Pediatrik Kardiyoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Histoloji ve Embriyoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus

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