BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 23124896)

  • 1. Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
    Hume AN; John A; Akawi NA; Al-Awadhi AM; Al-Suwaidi SS; Al-Gazali L; Ali BR
    Mol Cell Biochem; 2013 Jan; 373(1-2):247-57. PubMed ID: 23124896
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
    Fernandez-L A; Sanz-Rodriguez F; Zarrabeitia R; Perez-Molino A; Morales C; Restrepo CM; Ramirez JR; Coto E; Lenato GM; Bernabeu C; Botella LM
    Hum Mutat; 2006 Mar; 27(3):295. PubMed ID: 16470589
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
    Ruiz-Llorente L; Gallardo-Vara E; Rossi E; Smadja DM; Botella LM; Bernabeu C
    Expert Opin Ther Targets; 2017 Oct; 21(10):933-947. PubMed ID: 28796572
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models of Hereditary Hemorrhagic Telangiectasia.
    Hwan Kim Y; Vu PN; Choe SW; Jeon CJ; Arthur HM; Vary CPH; Lee YJ; Oh SP
    Circ Res; 2020 Oct; 127(9):1122-1137. PubMed ID: 32762495
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
    Berg J; Porteous M; Reinhardt D; Gallione C; Holloway S; Umasunthar T; Lux A; McKinnon W; Marchuk D; Guttmacher A
    J Med Genet; 2003 Aug; 40(8):585-90. PubMed ID: 12920067
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
    Ali BR; Ben-Rebeh I; John A; Akawi NA; Milhem RM; Al-Shehhi NA; Al-Ameri MM; Al-Shamisi SA; Al-Gazali L
    PLoS One; 2011; 6(10):e26206. PubMed ID: 22022569
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.
    Scotti C; Olivieri C; Boeri L; Canzonieri C; Ornati F; Buscarini E; Pagella F; Danesino C
    PLoS One; 2011; 6(10):e26431. PubMed ID: 22028876
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
    Fontalba A; Fernandez-L A; García-Alegria E; Albiñana V; Garrido-Martin EM; Blanco FJ; Zarrabeitia R; Perez-Molino A; Bernabeu-Herrero ME; Ojeda ML; Fernandez-Luna JL; Bernabeu C; Botella LM
    BMC Med Genet; 2008 Aug; 9():75. PubMed ID: 18673552
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
    Ricard N; Bidart M; Mallet C; Lesca G; Giraud S; Prudent R; Feige JJ; Bailly S
    Blood; 2010 Sep; 116(9):1604-12. PubMed ID: 20501893
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.
    Fernández-L A; Sanz-Rodriguez F; Blanco FJ; Bernabéu C; Botella LM
    Clin Med Res; 2006 Mar; 4(1):66-78. PubMed ID: 16595794
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
    Gariballa N; Badawi S; Ali BR
    Traffic; 2024 Jan; 25(1):e12928. PubMed ID: 38272447
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
    Alaa El Din F; Patri S; Thoreau V; Rodriguez-Ballesteros M; Hamade E; Bailly S; Gilbert-Dussardier B; Abou Merhi R; Kitzis A
    PLoS One; 2015; 10(7):e0132111. PubMed ID: 26176610
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions.
    Fernandez-L A; Sanz-Rodriguez F; Zarrabeitia R; Pérez-Molino A; Hebbel RP; Nguyen J; Bernabéu C; Botella LM
    Cardiovasc Res; 2005 Nov; 68(2):235-48. PubMed ID: 15993872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells.
    Albiñana V; Bernabeu-Herrero ME; Zarrabeitia R; Bernabéu C; Botella LM
    Thromb Haemost; 2010 Mar; 103(3):525-34. PubMed ID: 20135064
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
    Abdalla SA; Letarte M
    J Med Genet; 2006 Feb; 43(2):97-110. PubMed ID: 15879500
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
    Mallet C; Lamribet K; Giraud S; Dupuis-Girod S; Feige JJ; Bailly S; Tillet E
    Hum Mol Genet; 2015 Feb; 24(4):1142-54. PubMed ID: 25312062
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia.
    Zarrabeitia R; Ojeda-Fernandez L; Recio L; Bernabéu C; Parra JA; Albiñana V; Botella LM
    Thromb Haemost; 2016 Jun; 115(6):1167-77. PubMed ID: 26818701
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
    Letteboer TG; Mager JJ; Snijder RJ; Koeleman BP; Lindhout D; Ploos van Amstel JK; Westermann CJ
    J Med Genet; 2006 Apr; 43(4):371-7. PubMed ID: 16155196
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary haemorrhagic telangiectasia: a clinical and scientific review.
    Govani FS; Shovlin CL
    Eur J Hum Genet; 2009 Jul; 17(7):860-71. PubMed ID: 19337313
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
    Harrison RE; Flanagan JA; Sankelo M; Abdalla SA; Rowell J; Machado RD; Elliott CG; Robbins IM; Olschewski H; McLaughlin V; Gruenig E; Kermeen F; Halme M; Räisänen-Sokolowski A; Laitinen T; Morrell NW; Trembath RC
    J Med Genet; 2003 Dec; 40(12):865-71. PubMed ID: 14684682
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.