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Fragile X syndrome and connective tissue dysregulation

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dc.creatorRamírez-Cheyne J.A.spa
dc.creatorDuque G.A.spa
dc.creatorAyala-Zapata S.spa
dc.creatorSaldarriaga-Gil W.spa
dc.creatorHagerman P.spa
dc.creatorHagerman R.spa
dc.creatorPayan-Gomez, Cesarspa
dc.date.accessioned2020-05-26T00:04:23Z
dc.date.available2020-05-26T00:04:23Z
dc.date.created2019spa
dc.description.abstractFragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Connective tissue connects and supports all other tissues of the body and is composed of cells and extracellular matrix (ECM). Several proteins have been involved in the connective tissue abnormalities associated with the FXS, such as matrix metalloproteinase 9, which plays an important role in the homeostasis of the ECM, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS. Here, we review connective tissue problems described in FXS. © 2018 John Wiley and Sons A/S. Published by John Wiley and Sons Ltdeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1111/cge.13469
dc.identifier.issn00099163
dc.identifier.issn13990004
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23681
dc.language.isoengspa
dc.publisherBlackwell Publishing Ltdspa
dc.relation.citationEndPage267
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage262
dc.relation.citationTitleClinical Genetics
dc.relation.citationVolumeVol. 95
dc.relation.ispartofClinical Genetics, ISSN:00099163, 13990004, Vol.95, No.2 (2019); pp. 262-267spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85057324778&doi=10.1111%2fcge.13469&partnerID=40&md5=7115c5ba2438055d060d1b5a38a3bfabspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordActinspa
dc.subject.keywordElastinspa
dc.subject.keywordGelatinase bspa
dc.subject.keywordMinocyclinespa
dc.subject.keywordFmr1 protein, humanspa
dc.subject.keywordFragile x mental retardation proteinspa
dc.subject.keywordScleroproteinspa
dc.subject.keywordCardiovascular systemspa
dc.subject.keywordConnective tissue diseasespa
dc.subject.keywordFragile x syndromespa
dc.subject.keywordHumanspa
dc.subject.keywordMusculoskeletal systemspa
dc.subject.keywordNonhumanspa
dc.subject.keywordPriority journalspa
dc.subject.keywordReviewspa
dc.subject.keywordUrogenital systemspa
dc.subject.keywordAnimalspa
dc.subject.keywordAntibody specificityspa
dc.subject.keywordConnective tissuespa
dc.subject.keywordFragile x syndromespa
dc.subject.keywordGenetic association studyspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMetabolismspa
dc.subject.keywordOrganogenesisspa
dc.subject.keywordPathophysiologyspa
dc.subject.keywordPhenotypespa
dc.subject.keywordAnimalsspa
dc.subject.keywordConnective tissuespa
dc.subject.keywordExtracellular matrix proteinsspa
dc.subject.keywordFragile x mental retardation proteinspa
dc.subject.keywordFragile x syndromespa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordHumansspa
dc.subject.keywordOrgan specificityspa
dc.subject.keywordOrganogenesisspa
dc.subject.keywordPhenotypespa
dc.subject.keywordConnective tissuespa
dc.subject.keywordExtracellular matrixspa
dc.subject.keywordExtracellular matrix proteinsspa
dc.subject.keywordFragile x syndromespa
dc.titleFragile X syndrome and connective tissue dysregulationspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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