154 related articles for article (PubMed ID: 17081563)
1. Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia.
Llorca O; Trujillo A; Blanco FJ; Bernabeu C
J Mol Biol; 2007 Jan; 365(3):694-705. PubMed ID: 17081563
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
Ruiz-Llorente L; Chiapparino E; Plumitallo S; Danesino C; Bayrak-Toydemir P; Pagella F; Manfredi G; Bernabeu C; Jovine L; Olivieri C
Gene; 2019 May; 696():33-39. PubMed ID: 30763665
[TBL] [Abstract][Full Text] [Related]
4. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia.
Azuma H
J Med Invest; 2000 Aug; 47(3-4):81-90. PubMed ID: 11019486
[TBL] [Abstract][Full Text] [Related]
5. Structural and functional insights into endoglin ligand recognition and binding.
Alt A; Miguel-Romero L; Donderis J; Aristorena M; Blanco FJ; Round A; Rubio V; Bernabeu C; Marina A
PLoS One; 2012; 7(2):e29948. PubMed ID: 22347366
[TBL] [Abstract][Full Text] [Related]
6. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
McAllister KA; Grogg KM; Johnson DW; Gallione CJ; Baldwin MA; Jackson CE; Helmbold EA; Markel DS; McKinnon WC; Murrell J
Nat Genet; 1994 Dec; 8(4):345-51. PubMed ID: 7894484
[TBL] [Abstract][Full Text] [Related]
7. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.
Pece N; Vera S; Cymerman U; White RI; Wrana JL; Letarte M
J Clin Invest; 1997 Nov; 100(10):2568-79. PubMed ID: 9366572
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.
Suzuki A; Nakashima D; Miyawaki Y; Fujita J; Maki A; Fujimori Y; Takagi A; Murate T; Teranishi M; Matsushita T; Saito H; Kojima T
Thromb Res; 2012 May; 129(5):e200-8. PubMed ID: 22385575
[TBL] [Abstract][Full Text] [Related]
10. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione CJ; Klaus DJ; Yeh EY; Stenzel TT; Xue Y; Anthony KB; McAllister KA; Baldwin MA; Berg JN; Lux A; Smith JD; Vary CP; Craigen WJ; Westermann CJ; Warner ML; Miller YE; Jackson CE; Guttmacher AE; Marchuk DA
Hum Mutat; 1998; 11(4):286-94. PubMed ID: 9554745
[TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.
Yamaguchi H; Azuma H; Shigekiyo T; Inoue H; Saito S
Thromb Haemost; 1997 Feb; 77(2):243-7. PubMed ID: 9157574
[TBL] [Abstract][Full Text] [Related]
12. Expression of normal and truncated forms of human endoglin.
Raab U; Velasco B; Lastres P; Letamendía A; Calés C; Langa C; Tapia E; López-Bote JP; Páez E; Bernabéu C
Biochem J; 1999 May; 339 ( Pt 3)(Pt 3):579-88. PubMed ID: 10215596
[TBL] [Abstract][Full Text] [Related]
13. Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1.
Ríus C; Smith JD; Almendro N; Langa C; Botella LM; Marchuk DA; Vary CP; Bernabéu C
Blood; 1998 Dec; 92(12):4677-90. PubMed ID: 9845534
[TBL] [Abstract][Full Text] [Related]
14. A murine model of hereditary hemorrhagic telangiectasia.
Bourdeau A; Dumont DJ; Letarte M
J Clin Invest; 1999 Nov; 104(10):1343-51. PubMed ID: 10562296
[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. Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
Pece-Barbara N; Cymerman U; Vera S; Marchuk DA; Letarte M
Hum Mol Genet; 1999 Nov; 8(12):2171-81. PubMed ID: 10545596
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Abdalla SA; Cymerman U; Rushlow D; Chen N; Stoeber GP; Lemire EG; Letarte M
Hum Mutat; 2005 Mar; 25(3):320-1. PubMed ID: 15712271
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD; Richards J; George C; Godmilow L; Ganguly A
Hum Mutat; 2006 Jul; 27(7):667-75. PubMed ID: 16752392
[TBL] [Abstract][Full Text] [Related]
20. Novel biochemical pathways of endoglin in vascular cell physiology.
Bernabeu C; Conley BA; Vary CP
J Cell Biochem; 2007 Dec; 102(6):1375-88. PubMed ID: 17975795
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]