Similar articles for PMID: 10749981

Year	Number of Results
1994	1
1995	1
1997	4
1998	3
1999	4
2000	8
2001	2
2003	4
2004	7
2005	12
2006	4
2007	2
2008	1
2009	1
2010	3
2011	3
2012	2
2014	4
2015	6
2016	1
2017	3
2019	1
2022	2
2024	0

1

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

Lux A, Gallione CJ, Marchuk DA. Lux A, et al. Hum Mol Genet. 2000 Mar 22;9(5):745-55. doi: 10.1093/hmg/9.5.745. Hum Mol Genet. 2000. PMID: 10749981

2

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. Pece-Barbara N, et al. Hum Mol Genet. 1999 Nov;8(12):2171-81. doi: 10.1093/hmg/8.12.2171. Hum Mol Genet. 1999. PMID: 10545596

3

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Paquet ME, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C, Letarte M. Paquet ME, et al. Hum Mol Genet. 2001 Jun 15;10(13):1347-57. doi: 10.1093/hmg/10.13.1347. Hum Mol Genet. 2001. PMID: 11440987

4

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M. Abdalla SA, et al. Hum Mol Genet. 2000 May 1;9(8):1227-37. doi: 10.1093/hmg/9.8.1227. Hum Mol Genet. 2000. PMID: 10767348

5

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 Jr, Wrana JL, Letarte M. Pece N, et al. J Clin Invest. 1997 Nov 15;100(10):2568-79. doi: 10.1172/JCI119800. J Clin Invest. 1997. PMID: 9366572 Free PMC article.

6

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. Gallione CJ, et al. Hum Mutat. 1998;11(4):286-94. doi: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1998. PMID: 9554745

7

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. Fernandez-L A, et al. Hum Mutat. 2006 Mar;27(3):295. doi: 10.1002/humu.9413. Hum Mutat. 2006. PMID: 16470589

8

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. Raab U, et al. Biochem J. 1999 May 1;339 ( Pt 3)(Pt 3):579-88. Biochem J. 1999. PMID: 10215596 Free PMC article.

9

Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.

Sanz-Rodriguez F, Fernandez-L A, Zarrabeitia R, Perez-Molino A, Ramírez JR, Coto E, Bernabeu C, Botella LM. Sanz-Rodriguez F, et al. Clin Chem. 2004 Nov;50(11):2003-11. doi: 10.1373/clinchem.2004.035287. Epub 2004 Sep 16. Clin Chem. 2004. PMID: 15375013

10

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. Harrison RE, et al. J Med Genet. 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. J Med Genet. 2003. PMID: 14684682 Free PMC article.

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