Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.creator | Radic, Claudia Pamela | - |
| dc.creator | Rossetti, Liliana Carmen | - |
| dc.creator | Abelleyro, Miguel Martin | - |
| dc.creator | Tetzlaff, T. | - |
| dc.creator | Candela, M. | - |
| dc.creator | Neme, D. | - |
| dc.creator | Sciuccati, G. | - |
| dc.creator | Bonduel, M. | - |
| dc.creator | Medina Acosta, E. | - |
| dc.creator | Larripa, Irene Beatriz | - |
| dc.creator | De Tezanos Pinto, M. | - |
| dc.creator | de Brasi, Carlos Daniel | - |
| dc.date | 2018-03-13T19:20:19Z | - |
| dc.date | 2018-03-13T19:20:19Z | - |
| dc.date | 2015-04 | - |
| dc.date | 2018-03-08T18:59:25Z | - |
| dc.date.accessioned | 2019-04-29T15:54:48Z | - |
| dc.date.available | 2019-04-29T15:54:48Z | - |
| dc.identifier | Radic, Claudia Pamela; Rossetti, Liliana Carmen; Abelleyro, Miguel Martin; Tetzlaff, T.; Candela, M.; et al.; Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation; Wiley Blackwell Publishing, Inc; Journal of Thrombosis and Haemostasis; 13; 4; 4-2015; 530-539 | - |
| dc.identifier | 1538-7933 | - |
| dc.identifier | http://hdl.handle.net/11336/38691 | - |
| dc.identifier | CONICET Digital | - |
| dc.identifier | CONICET | - |
| dc.identifier.uri | http://rodna.bn.gov.ar:8080/jspui/handle/bnmm/305199 | - |
| dc.description | Background: The recessive X-linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal factor VIII activity (FVIII:C). Objective: To propose an integrative assessment model for the binary role of the phase between the mutated F8 and the active X-chromosome (Xa) in FVIII:C in HA carriers. Methods: We studied 67 females at risk of severe HA, comprising five symptomatic females (FVIII:C < 1.5 IU dL−1) and 14 controls. A correlation study between FVIII:C (observed vs. expected) and X-chromosome inactivation (XCI) patterns (XIPs; androgen receptor gene [AR] system) in blood leukocyte DNA was performed in carriers, by comparison of a model correlating FVIII:C and XIP with arbitrary models devoid of biological significance, and with FVIII:C levels in non-carriers (mean model) as a proxy from background data dispersion not influenced by XIP. Results: We provide proof-of-concept example from a family presenting with extremely skewed XIPs in which the severe HA phenotype appeared in a heterozygous carrier of a crossover between AR and F8 loci that phased the mutated F8 with the maternally inherited Xa. Furthermore, four cases of severe HA affected women who had a combination of a heterozygous F8 mutation and extremely skewed XIPs in leukocytes or oral mucosa are presented. Correlation analyses between FVIII:C levels and XIPs in carriers (n = 38) but not in non-carriers (n = 20) showed highly significant differences between the proposed correlation model and models without biological significance. The data support a binary influence of XCI, either increasing or decreasing the FVIII:C, subject to the underlying phase set between the F8 mutation and XCI. Conclusions: Our evidence suggests that the phase between XCI and mutated F8 acts as a molecular switch conditioning FVIII:C levels and HA expression in carriers. | - |
| dc.description | Fil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina | - |
| dc.description | Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina | - |
| dc.description | Fil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina | - |
| dc.description | Fil: Tetzlaff, T.. Universidad Nacional de General Sarmiento. Instituto de Ciencias; Argentina | - |
| dc.description | Fil: Candela, M.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina | - |
| dc.description | Fil: Neme, D.. Fundación de la Hemofilia "Alfredo Pavlovsky"; Argentina | - |
| dc.description | Fil: Sciuccati, G.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina | - |
| dc.description | Fil: Bonduel, M.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina | - |
| dc.description | Fil: Medina Acosta, E.. Universidade Estadual Do Norte Fluminense Darcy Ribeiro; Brasil | - |
| dc.description | Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina | - |
| dc.description | Fil: De Tezanos Pinto, M.. Fundación de la Hemofilia "Alfredo Pavlovsky"; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina | - |
| dc.description | Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.language | eng | - |
| dc.publisher | Wiley Blackwell Publishing, Inc | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/jth.12854/abstract | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/jth.12854 | - |
| 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 | F8 protein | - |
| dc.subject | hemophilia A | - |
| dc.subject | X-linked genetic diseases | - |
| dc.subject | X chromosome inactivation | - |
| dc.subject | Inmunología | - |
| dc.subject | Medicina Básica | - |
| dc.subject | CIENCIAS MÉDICAS Y DE LA SALUD | - |
| dc.title | Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation | - |
| 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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