Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/213188
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Campo DC | Valor | Lengua/Idioma |
---|---|---|
dc.contributor.author | Wooderchak-Donahue, Whitney | es_ES |
dc.contributor.author | McDonald, Jamie | es_ES |
dc.contributor.author | O'Fallon, Brendan D. | es_ES |
dc.contributor.author | Upton, Paul D. | es_ES |
dc.contributor.author | Li, Wei | es_ES |
dc.contributor.author | Roman, Beth L. | es_ES |
dc.contributor.author | Young, Sarah | es_ES |
dc.contributor.author | Plant, Parker | es_ES |
dc.contributor.author | Fülöp, Gyula T. | es_ES |
dc.contributor.author | Langa, Carmen | es_ES |
dc.contributor.author | Morrell, Nicholas W. | es_ES |
dc.contributor.author | Botella, Luisa María | es_ES |
dc.contributor.author | Bernabéu, Carmelo | es_ES |
dc.contributor.author | Stevenson, David A. | es_ES |
dc.contributor.author | Runo, James R. | es_ES |
dc.contributor.author | Bayrak-Toydemir, Pinar | es_ES |
dc.date.accessioned | 2020-06-03T11:09:54Z | - |
dc.date.available | 2020-06-03T11:09:54Z | - |
dc.date.issued | 2013-09-05 | - |
dc.identifier.citation | Am J Hum Genet 93 (3) 530-537 (2013) | es_ES |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | http://hdl.handle.net/10261/213188 | - |
dc.description | 8 p.-5 fig.-1 tab. | es_ES |
dc.description.abstract | Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT. | es_ES |
dc.description.sponsorship | This work was funded by the Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, a National Institutes of Health grant R01 (HL079108 to B.L.R.), a British Heart Foundation Programme grant (RG/08/002/24718 to N.W.M), and the Ministerio de Economia y Competitividad of Spain (SAF2010-19222 to C.B.). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.rights | closedAccess | es_ES |
dc.subject | Kinase 1 alk1 | es_ES |
dc.subject | Rasa1 mutations | es_ES |
dc.subject | Arteriovenous malformation | es_ES |
dc.subject | Endothelial-cells | es_ES |
dc.subject | Weber-syndrome | es_ES |
dc.subject | Zebrafish | es_ES |
dc.subject | Capillary | es_ES |
dc.subject | Identification | es_ES |
dc.subject | Receptors | es_ES |
dc.subject | Locus | es_ES |
dc.title | BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1016/j.ajhg.2013.07.004 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | https://doi.org/10.1016/j.ajhg.2013.07.004 | es_ES |
dc.identifier.e-issn | 1537-6605 | - |
dc.contributor.funder | National Institutes of Health (US) | es_ES |
dc.contributor.funder | British Heart Foundation | es_ES |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000274 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100000002 | es_ES |
dc.contributor.orcid | Wooderchak-Donahue, Whitney [0000-0002-9358-7466] | es_ES |
dc.contributor.orcid | O'Fallon, Brendan D. [0000-0001-7185-7894] | es_ES |
dc.contributor.orcid | Roman, Beth L. [0000-0002-1250-1705] | es_ES |
dc.contributor.orcid | Young, Sarah [0000-0002-8301-5106] | es_ES |
dc.contributor.orcid | Morrell, Nicholas W. [0000-0001-5700-9792] | es_ES |
dc.contributor.orcid | Botella, Luisa María [0000-0002-6310-2245] | es_ES |
dc.contributor.orcid | Bernabéu, Carmelo [0000-0002-1563-6162] | es_ES |
dc.contributor.orcid | Bayrak-Toydemir, Pinar [0000-0001-9381-2478] | es_ES |
dc.identifier.pmid | 23972370 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairetype | artículo | - |
Aparece en las colecciones: | (CIB) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | Restringido | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
132
checked on 12-abr-2024
SCOPUSTM
Citations
237
checked on 21-abr-2024
WEB OF SCIENCETM
Citations
206
checked on 27-feb-2024
Page view(s)
151
checked on 24-abr-2024
Download(s)
19
checked on 24-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.