{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:14:17Z","timestamp":1790266457045,"version":"4.1.0"},"reference-count":68,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T00:00:00Z","timestamp":1543276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X\u2010linked 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.<\/jats:p>","DOI":"10.1111\/cge.13469","type":"journal-article","created":{"date-parts":[[2018,11,10]],"date-time":"2018-11-10T09:11:12Z","timestamp":1541841072000},"page":"262-267","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Fragile X syndrome and connective tissue dysregulation"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5418-7710","authenticated-orcid":false,"given":"Juli\u00e1n A.","family":"Ram\u00edrez\u2010Cheyne","sequence":"first","affiliation":[{"name":"Departamento de Morfolog\u00eda Universidad del Valle  Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo A.","family":"Duque","sequence":"additional","affiliation":[{"name":"Departamento de Morfolog\u00eda Universidad del Valle  Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Ayala\u2010Zapata","sequence":"additional","affiliation":[{"name":"Departamento de Morfolog\u00eda Universidad del Valle  Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7815-4390","authenticated-orcid":false,"given":"Wilmar","family":"Saldarriaga\u2010Gil","sequence":"additional","affiliation":[{"name":"Departamento de Morfolog\u00eda Universidad del Valle  Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hagerman","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, University of California  Davis California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randi","family":"Hagerman","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, University of California  Davis California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar","family":"Pay\u00e1n\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias Naturales y Matem\u00e1ticas, Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90397-H"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm401"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yapd.2009.08.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2010.08.005"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.013"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070408"},{"key":"e_1_2_9_9_1","first-page":"674","article-title":"Learning disabilities and attentional problems in boys with the fragile X syndrome","volume":"139","author":"Hagerman R","year":"1985","journal-title":"Am J Dis Child"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380270"},{"key":"e_1_2_9_11_1","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1542\/peds.95.5.744","article-title":"Specification of the neurobehavioral phenotype in males with fragile X syndrome","volume":"95","author":"Baumgardner T","year":"1995","journal-title":"Pediatrics"},{"key":"e_1_2_9_12_1","volume-title":"Histology and Cell Biology. An Introduction to Pathology","author":"Kierszenbaum AL","year":"2016"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170105"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(1998)102<0590:PIIFWT>2.0.CO;2"},{"key":"e_1_2_9_15_1","first-page":"124","article-title":"The prenatal development of the human nasal and vomeral bones","volume":"14","author":"Sandikcioglu M","year":"1994","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.56021\/9780801868436"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10099"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(98)80035-5"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061796"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.037945.112"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300107"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<248::AID-AJMG3>3.0.CO;2-1"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580311"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2779(2000)6:3<186::AID-MRDD6>3.0.CO;2-9"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199072060-00015"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.blo.0000143560.41767.ee"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevEukarGeneExpr.v19.i3.30"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2003.12.003"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj20020165"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.4.7.1094"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.10138"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.108.12.3649"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/290249a0"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(82)90388-8"},{"key":"e_1_2_9_35_1","first-page":"313","article-title":"Studies on the evolution of elastin I. Phylogenetic distribution","volume":"64","author":"Sage H","year":"1979","journal-title":"Comp Biochem Physiol"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.107.9.2623"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0934-8832(11)80206-4"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00190142"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.103.6.2499"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-363710-9.50009-5"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<123::AID-AJMG6>3.0.CO;2-U"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1226"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230113"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.61.3.289"},{"issue":"10","key":"e_1_2_9_45_1","first-page":"857","article-title":"Cardiovascular aspects of Martin\u2010bell syndrome","volume":"35","author":"Puzzo A","year":"1990","journal-title":"Cardiologia"},{"key":"e_1_2_9_46_1","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1542\/peds.91.4.714","article-title":"Cardiovascular abnormalities in children with fragile X syndrome","volume":"91","author":"Crabbe L","year":"1993","journal-title":"Pediatrics"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2000.00261.x"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<268::AID-AJMG7>3.0.CO;2-K"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36023"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1239303"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0510645103"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.6028-11.2012"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0807248105"},{"key":"e_1_2_9_54_1","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD002086","article-title":"Minocycline for acne vulgaris: efficacy and safety","author":"Garner S","year":"2003","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2011.04.006"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1832501100"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12640-012-9315-x"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.2002.0487"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.008045"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e318287cd17"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-10-91"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1352\/1944-7558-115.5.433"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.aaf6060"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2008.07.003"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.4161\/rna.6.2.8196"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0016250"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathol-011811-132457"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11737"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M412501200"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T05:52:11Z","timestamp":1717653131000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,27]]},"references-count":68,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1111\/cge.13469"],"URL":"https:\/\/doi.org\/10.1111\/cge.13469","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,27]]},"assertion":[{"value":"2018-10-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}