Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.creator | Saraco, Nora Isabel | - |
| dc.creator | Nesi Franca, Suzana | - |
| dc.creator | Sainz, Romina Belén | - |
| dc.creator | Marino, Roxana Marcela | - |
| dc.creator | Marques Pereira, Rosana | - |
| dc.creator | La Pastina, Julia | - |
| dc.creator | Perez Garrido, Natalia | - |
| dc.creator | Sandrini, Romolo | - |
| dc.creator | Rivarola, Marco Aurelio | - |
| dc.creator | Lacerda, Luiz de | - |
| dc.creator | Belgorosky, Alicia | - |
| dc.date | 2018-04-11T20:39:35Z | - |
| dc.date | 2018-04-11T20:39:35Z | - |
| dc.date | 2015-08 | - |
| dc.date | 2018-04-11T16:01:19Z | - |
| dc.date.accessioned | 2019-04-29T15:31:25Z | - |
| dc.date.available | 2019-04-29T15:31:25Z | - |
| dc.date.issued | 2015-08 | - |
| dc.identifier | Saraco, Nora Isabel; Nesi Franca, Suzana; Sainz, Romina Belén; Marino, Roxana Marcela; Marques Pereira, Rosana; et al.; An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues; Karger; Hormone Research in Paediatrics; 84; 4; 8-2015; 275-282 | - |
| dc.identifier | 1663-2826 | - |
| dc.identifier | http://hdl.handle.net/11336/41793 | - |
| dc.identifier | CONICET Digital | - |
| dc.identifier | CONICET | - |
| dc.identifier.uri | http://rodna.bn.gov.ar:8080/jspui/handle/bnmm/295715 | - |
| dc.description | Background/Aims: Splicing CYP19 gene variants causingaromatase deficiency in 46,XX disorder of sexual development(DSD) patients have been reported in a few cases. Amisbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast developmentbut an incomplete sex maturation progress. Theaim of this study was to functionally characterize a novelCYP19A1 intronic homozygote mutation (IVS9+5G>A) in a46,XX DSD girl presenting spontaneous breast developmentand primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. Methods:Genomic DNA analysis, splicing prediction programs,splicing assays, and in vitro protein expression and enzymeactivity analyses were carried out. CYP19A1 mRNA expressionin human steroidogenic tissues was also studied. Results:A novel IVS9+5G>A homozygote mutation was found.In silico analysis predicts the disappearance of the splicingdonor site in intron 9, confirmed by patient peripheral leukocytecP450arom and in vitro studies. Protein analysisshowed a shorter and inactive protein. The intron 9 transcriptvariant was also found in human steroidogenic tissues.Conclusions: The mutation IVS9+5G>A generates a splicingvariant that includes intron 9 which is also present in normalhuman steroidogenic tissues, suggesting that a misbalancebetween normal and aberrant splicing variants might occurin target tissues, explaining the clinical phenotype in the affectedpatient. | - |
| dc.description | Fil: Saraco, Nora Isabel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina | - |
| dc.description | Fil: Nesi Franca, Suzana. Universidade Federal do Paraná; Brasil | - |
| dc.description | Fil: Sainz, Romina Belén. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina | - |
| dc.description | Fil: Marino, Roxana Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina | - |
| dc.description | Fil: Marques Pereira, Rosana. Universidade Federal do Paraná; Brasil | - |
| dc.description | Fil: La Pastina, Julia. Universidade Federal do Paraná; Brasil | - |
| dc.description | Fil: Perez Garrido, Natalia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina | - |
| dc.description | Fil: Sandrini, Romolo. Universidade Federal do Paraná; Brasil | - |
| dc.description | Fil: Rivarola, Marco Aurelio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina | - |
| dc.description | Fil: Lacerda, Luiz de. Universidade Federal do Paraná; Brasil | - |
| dc.description | Fil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.language | eng | - |
| dc.publisher | Karger | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/http://doi.org/10.1159/000437142 | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/437142 | - |
| dc.rights | info:eu-repo/semantics/restrictedAccess | - |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | - |
| dc.source | reponame:CONICET Digital (CONICET) | - |
| dc.source | instname:Consejo Nacional de Investigaciones Científicas y Técnicas | - |
| dc.source | instacron:CONICET | - |
| dc.subject | Aromatase deficiency | - |
| dc.subject | Mutation | - |
| dc.subject | CYP19A1 | - |
| dc.subject | Steroidogenic tissues | - |
| dc.subject | Splicing | - |
| dc.subject | Medicina Critica y de Emergencia | - |
| dc.subject | Medicina Clínica | - |
| dc.subject | CIENCIAS MÉDICAS Y DE LA SALUD | - |
| dc.title | An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.type | info:ar-repo/semantics/articulo | - |
| Aparece en las colecciones: | CONICET | |
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