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Items: 1 to 20 of 64

1.

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ.

Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633. Erratum in: Nat Commun. 2012;3:1148.

2.

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.

Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Young WL, Kim H, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group.

Am J Med Genet A. 2015 Jun;167(6):1262-7. doi: 10.1002/ajmg.a.36936. Epub 2015 Apr 2.

3.

BMP9 induces EphrinB2 expression in endothelial cells through an Alk1-BMPRII/ActRII-ID1/ID3-dependent pathway: implications for hereditary hemorrhagic telangiectasia type II.

Kim JH, Peacock MR, George SC, Hughes CC.

Angiogenesis. 2012 Sep;15(3):497-509. doi: 10.1007/s10456-012-9277-x. Epub 2012 May 24.

4.

Interaction Between ALK1 Signaling and Connexin40 in the Development of Arteriovenous Malformations.

Gkatzis K, Thalgott J, Dos-Santos-Luis D, Martin S, Lamandé N, Carette MF, Disch F, Snijder RJ, Westermann CJ, Mager JJ, Oh SP, Miquerol L, Arthur HM, Mummery CL, Lebrin F.

Arterioscler Thromb Vasc Biol. 2016 Apr;36(4):707-17. doi: 10.1161/ATVBAHA.115.306719. Epub 2016 Jan 28.

5.

Arteriovenous malformations in mice lacking activin receptor-like kinase-1.

Urness LD, Sorensen LK, Li DY.

Nat Genet. 2000 Nov;26(3):328-31.

PMID:
11062473
6.

Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH.

Mahmoud M, Borthwick GM, Hislop AA, Arthur HM.

Lab Invest. 2009 Jan;89(1):15-25. doi: 10.1038/labinvest.2008.112. Epub 2008 Nov 17.

7.

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F.

Clin Genet. 2012 Aug;82(2):173-9. doi: 10.1111/j.1399-0004.2011.01727.x. Epub 2011 Jul 13.

PMID:
21651515
8.

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Kawasaki K, Freimuth J, Meyer DS, Lee MM, Tochimoto-Okamoto A, Benzinou M, Clermont FF, Wu G, Roy R, Letteboer TG, Ploos van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Westermann CJ, Coffey RJ Jr, Akhurst RJ.

Proc Natl Acad Sci U S A. 2014 May 27;111(21):7723-8. doi: 10.1073/pnas.1318761111. Epub 2014 May 8.

9.

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

Tørring PM, Larsen MJ, Kjeldsen AD, Ousager LB, Tan Q, Brusgaard K.

PLoS One. 2014 Mar 6;9(3):e90272. doi: 10.1371/journal.pone.0090272. eCollection 2014.

10.
11.

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Letteboer TG, Benzinou M, Merrick CB, Quigley DA, Zhau K, Kim IJ, To MD, Jablons DM, van Amstel JK, Westermann CJ, Giraud S, Dupuis-Girod S, Lesca G, Berg JH, Balmain A, Akhurst RJ.

Front Genet. 2015 Mar 12;6:67. doi: 10.3389/fgene.2015.00067. eCollection 2015.

12.

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.

van den Driesche S, Mummery CL, Westermann CJ.

Cardiovasc Res. 2003 Apr 1;58(1):20-31. Review.

PMID:
12667943
13.

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.

N Engl J Med. 2001 Aug 2;345(5):325-34.

14.

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.

Vandenbriele C, Peerlinck K, de Ravel T, Verhamme P, Vanassche T.

Acta Clin Belg. 2014 Apr;69(2):139-41. doi: 10.1179/0001551213Z.00000000012. Epub 2014 Mar 4.

PMID:
24724759
15.

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P.

Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22.

16.

Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia.

Moon EH, Kim YS, Seo J, Lee S, Lee YJ, Oh SP.

Cardiovasc Res. 2015 Mar 1;105(3):353-60. doi: 10.1093/cvr/cvu260. Epub 2014 Dec 23.

PMID:
25538155
17.

Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.

Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, Lopez-Novoa JM, Düwell A, Vega MA, Bernabeu C, Botella LM.

Hum Mol Genet. 2007 Jul 1;16(13):1515-33. Epub 2007 Apr 9. Erratum in: Hum Mol Genet. 2007 Nov 1;16(21):2649. Fernandez-Lopez, Africa [corrected to Fernandez-L, Africa].

PMID:
17420163
18.

Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis.

Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK, Li L, Miyazono K, ten Dijke P, Kim S, Li E.

Proc Natl Acad Sci U S A. 2000 Mar 14;97(6):2626-31.

20.

Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.

Thomas B, Eyries M, Montagne K, Martin S, Agrapart M, Simerman-François R, Letarte M, Soubrier F.

Eur J Clin Invest. 2007 Jul;37(7):580-8.

PMID:
17576210

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