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dc.contributor.author
Teres Rodrigo, Maria
dc.contributor.author
Eckhold, Juliane
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Puisac, Beatriz
dc.contributor.author
Dalski, Andreas
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Gil Rodriguez, Maria C.
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Braunholz, Diana
dc.contributor.author
Baquero, Carolina
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Hernández Marcos, Maria
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de Karam, Juan C.
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Ciero, Milagros
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Santos Simarro, Fernando
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Lapunzina, Pablo
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Wierzba, Jolanta
dc.contributor.author
Casale, Cesar Horacio
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Ramos, Feliciano J.
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Gillessen Kaesbach, Gabriele
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Kaiser, Frank
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Pie, Juan
dc.date.available
2018-01-22T17:37:10Z
dc.date.issued
2014-05
dc.identifier.citation
Teres Rodrigo, Maria; Eckhold, Juliane; Puisac, Beatriz; Dalski, Andreas; Gil Rodriguez, Maria C.; et al.; Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome; Molecular Diversity Preservation International; International Journal of Molecular Sciences; 15; 6; 5-2014; 10350-10364
dc.identifier.issn
1422-0067
dc.identifier.uri
http://hdl.handle.net/11336/34104
dc.description.abstract
Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame. View Full-Text
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Molecular Diversity Preservation International
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Cdls
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Nipbl
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Splicing Mutations
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Physiological Splicing
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Otras Ciencias Biológicas
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dc.subject.classification
Ciencias Biológicas
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dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
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dc.title
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-01-22T14:24:17Z
dc.journal.volume
15
dc.journal.number
6
dc.journal.pagination
10350-10364
dc.journal.pais
Suiza
dc.journal.ciudad
Basel
dc.description.fil
Fil: Teres Rodrigo, Maria. Universidad de Zaragoza; España
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Fil: Eckhold, Juliane. Universität zu Lübeck; Alemania
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Fil: Puisac, Beatriz. Universidad de Zaragoza; España
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Fil: Dalski, Andreas. Universität zu Lübeck; Alemania
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Fil: Gil Rodriguez, Maria C.. Universidad de Zaragoza; España
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Fil: Braunholz, Diana. Universität zu Lübeck; Alemania
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Fil: Baquero, Carolina. Universidad de Zaragoza; España. Hospital Pablo Tobon Uribe. Medellin; Colombia
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Fil: Hernández Marcos, Maria. Universidad de Zaragoza; España
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Fil: de Karam, Juan C.. Universidad de Zaragoza; España
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Fil: Ciero, Milagros. Universidad de Zaragoza; España
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Fil: Santos Simarro, Fernando. Hospital Universitario La Paz. Madrid; España
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Fil: Lapunzina, Pablo. Hospital Universitario La Paz. Madrid; España
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Fil: Wierzba, Jolanta. University of Gdańsk; Polonia
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Fil: Casale, Cesar Horacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Río Cuarto. Facultad de Ciencias Exactas Fisicoquímicas y Naturales. Departamento de Biología Molecular; Argentina
dc.description.fil
Fil: Ramos, Feliciano J.. Universidad de Zaragoza; España. University Clinic Hospital "Lozano Blesa"; España
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Fil: Gillessen Kaesbach, Gabriele. Universität zu Lübeck; Alemania
dc.description.fil
Fil: Kaiser, Frank. Universität zu Lübeck; Alemania
dc.description.fil
Fil: Pie, Juan. Universidad de Zaragoza; España
dc.journal.title
International Journal of Molecular Sciences
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/ 10.3390/ijms150610350
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.mdpi.com/1422-0067/15/6/10350
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