Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197632
Full metadata record
DC FieldValueLanguage
dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleThree Novel Mutations In The Activin Receptor-like Kinase 1 (alk-1) Gene In Hereditary Hemorrhagic Telangiectasia Type 2 In Brazilian Patients.pt_BR
dc.contributor.authorAssis, A Mpt_BR
dc.contributor.authorCosta, F Fpt_BR
dc.contributor.authorArruda, V Rpt_BR
dc.contributor.authorAnnichino-Bizzacchi, J Mpt_BR
dc.contributor.authorBertuzzo, C Spt_BR
unicamp.authorA M Assis, Hemoglobin and Genome Laboratory, Hematology and Hemotherapy Center, State University of Campinas, Unicamp, R. Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Campinas, SP, Brazil. angassis@yahoo.compt_BR
unicamp.author.externalF F Costa,pt
unicamp.author.externalV R Arruda,pt
unicamp.author.externalJ M Annichino-Bizzacchi,pt
unicamp.author.externalC S Bertuzzo,pt
dc.subjectActivin Receptors, Type Iipt_BR
dc.subjectAdultpt_BR
dc.subjectAgedpt_BR
dc.subjectAged, 80 And Overpt_BR
dc.subjectBrazilpt_BR
dc.subjectDna Mutational Analysispt_BR
dc.subjectExonspt_BR
dc.subjectFemalept_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectMiddle Agedpt_BR
dc.subjectMutationpt_BR
dc.subjectPedigreept_BR
dc.subjectTelangiectasia, Hereditary Hemorrhagicpt_BR
dc.description.abstractHereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber disease is a systemic fibrovascular dysplasia with an autosomal dominant inheritance pattern. Mutations in two genes, endoglin and ALK-1, are known to cause HHT, both of which mediate signaling by transforming growth factor beta ligands in vascular endothelial cells. Ten patients were analyzed. Diagnosis of HHT was carried out by means of family history, recurrent bleeding, and the presence of multiple telangiectases lesions. Conformation-sensitive gel electrophoresis analyses with consistent abnormal migration patterns were cloned and sequenced using the MegaBace 1000 DNA automated analyzer. Three novel mutations were identified in the coding sequence of the ALK-1 gene in five patients and their families, which demonstrated clinical manifestations of HHT type 2. These mutations included a G insertion and a T deletion of single base pairs in exons 3 and 7, as well as missense mutations in exons 7 and 8 of the ALK-1 gene. These data indicate that loss-of-function mutations in a single allele of the ALK1 locus are sufficient to contribute to defects in maintaining endothelial integrity. We suggest the high rate of mutation detection and the small size of the ALK-1 gene make genomic sequencing a viable diagnostic test for HHT2.en
dc.relation.ispartofJournal Of Human Geneticspt_BR
dc.relation.ispartofabbreviationJ. Hum. Genet.pt_BR
dc.date.issued2007pt_BR
dc.identifier.citationJournal Of Human Genetics. v. 52, n. 3, p. 237-43, 2007.pt_BR
dc.language.isoengpt_BR
dc.description.volume52pt_BR
dc.description.firstpage237-43pt_BR
dc.rightsfechadopt_BR
dc.rights.holderpt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn1434-5161pt_BR
dc.identifier.doi10.1007/s10038-006-0104-3pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/17219009pt_BR
dc.date.available2015-11-27T13:10:49Z-
dc.date.accessioned2015-11-27T13:10:49Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T13:10:49Z (GMT). No. of bitstreams: 1 pmed_17219009.pdf: 242521 bytes, checksum: db7ebd0b305142ef753d9c454006f81f (MD5) Previous issue date: 2007en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197632-
dc.identifier.idPubmed17219009pt_BR
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_17219009.pdf236.84 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.