{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:14Z","timestamp":1791296834643,"version":"4.1.0"},"reference-count":23,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2018,8,21]],"date-time":"2018-08-21T00:00:00Z","timestamp":1534809600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-14-CE-15-0012-01"],"award-info":[{"award-number":["ANR-14-CE-15-0012-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Programme Hospitalier de Recherche Clinique","award":["AOM10108"],"award-info":[{"award-number":["AOM10108"]}]},{"name":"Programme Hospitalier de Recherche Clinique","award":["CRC15014"],"award-info":[{"award-number":["CRC15014"]}]},{"name":"DHU FIRE","award":["Emergence 2 project"],"award-info":[{"award-number":["Emergence 2 project"]}]},{"DOI":"10.13039\/501100003100","name":"F\u00e9d\u00e9ration Fran\u00e7aise de Cardiologie","doi-asserted-by":"publisher","award":["GJ"],"award-info":[{"award-number":["GJ"]}],"id":[{"id":"10.13039\/501100003100","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005630","name":"Soci\u00e9t\u00e9 Fran\u00e7aise de Cardiologie","doi-asserted-by":"publisher","award":["GJ"],"award-info":[{"award-number":["GJ"]}],"id":[{"id":"10.13039\/501100005630","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed that fibrillin-1 (FBN1) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity. Therefore, an expression quantitative trait loci (eQTL) analysis was performed to identify trans-acting regulators of FBN1 expression, and a significant signal reached genome-wide significant threshold on chromosome 11. This signal delineated a region comprising one expressed gene, SLN (encoding sarcolipin), and a single pseudogene, SNX7-ps1 (CTD-2651C21.3). We first investigated the region and then looked for association between the genes in the region and FBN1 expression. For the first time, we showed that the SLN gene is weakly expressed in skin fibroblasts. There is no direct correlation between SLN and FBN1 gene expression. We showed that calcium influx modulates FBN1 gene expression. Finally, SLN gene expression is highly correlated to that of the neighboring SNX7-ps1. We were able to confirm the impact of calcium influx on FBN1 gene expression but we could not conclude regarding the role of sarcolipin and\/or the eQTL locus in this regulation.<\/jats:p>","DOI":"10.3390\/genes9090421","type":"journal-article","created":{"date-parts":[[2018,8,21]],"date-time":"2018-08-21T11:12:42Z","timestamp":1534849962000},"page":"421","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression"],"prefix":"10.3390","volume":"9","author":[{"given":"Louise","family":"Benarroch","sequence":"first","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lodie","family":"Aubart","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"},{"name":"Service de Neurop\u00e9diatrie, H\u00f4pital Necker-Enfants-Malades, 149 rue de S\u00e8vres, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Sylvie","family":"Gross","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Paule","family":"Jacob","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-1592","authenticated-orcid":false,"given":"Pauline","family":"Arnaud","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Hanna","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jondeau","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence pour le Syndrome de Marfan et Syndromes Apparent\u00e9s, Service de Cardiologie, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0371-7539","authenticated-orcid":false,"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,8,21]]},"reference":[{"key":"ref_1","unstructured":"(2018, July 16). 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