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Items: 1 to 20 of 111

1.

Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.

Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP.

J Biol Chem. 2011 Dec 30;286(52):44926-36. doi: 10.1074/jbc.M111.274779. Epub 2011 Nov 2.

2.

Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.

Goergen CJ, Li HH, Francke U, Taylor CA.

J Vasc Res. 2011;48(2):119-29. doi: 10.1159/000316808. Epub 2010 Oct 7.

3.

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA.

PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2.

4.

Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

Jiao Y, Li G, Korneva A, Caulk AW, Qin L, Bersi MR, Li Q, Li W, Mecham RP, Humphrey JD, Tellides G.

Arterioscler Thromb Vasc Biol. 2017 May;37(5):930-941. doi: 10.1161/ATVBAHA.117.309079. Epub 2017 Mar 2.

PMID:
28254817
5.

Effects of elastin haploinsufficiency on the mechanical behavior of mouse arteries.

Wagenseil JE, Nerurkar NL, Knutsen RH, Okamoto RJ, Li DY, Mecham RP.

Am J Physiol Heart Circ Physiol. 2005 Sep;289(3):H1209-17. Epub 2005 Apr 29.

PMID:
15863465
6.

Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency.

Osei-Owusu P, Knutsen RH, Kozel BA, Dietrich HH, Blumer KJ, Mecham RP.

Am J Physiol Heart Circ Physiol. 2014 Mar 1;306(5):H654-66. doi: 10.1152/ajpheart.00601.2013. Epub 2014 Jan 10.

7.

Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.

Faury G, Pezet M, Knutsen RH, Boyle WA, Heximer SP, McLean SE, Minkes RK, Blumer KJ, Kovacs A, Kelly DP, Li DY, Starcher B, Mecham RP.

J Clin Invest. 2003 Nov;112(9):1419-28.

8.

Supravalvular aortic stenosis: elastin arteriopathy.

Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN.

Circ Cardiovasc Genet. 2012 Dec;5(6):692-6. doi: 10.1161/CIRCGENETICS.112.962860. Review.

9.

Elastin haploinsufficiency induces alternative aging processes in the aorta.

Pezet M, Jacob MP, Escoubet B, Gheduzzi D, Tillet E, Perret P, Huber P, Quaglino D, Vranckx R, Li DY, Starcher B, Boyle WA, Mecham RP, Faury G.

Rejuvenation Res. 2008 Feb;11(1):97-112. doi: 10.1089/rej.2007.0587.

10.

Elastin-insufficient mice show normal cardiovascular remodeling in 2K1C hypertension despite higher baseline pressure and unique cardiovascular architecture.

Wagenseil JE, Knutsen RH, Li DY, Mecham RP.

Am J Physiol Heart Circ Physiol. 2007 Jul;293(1):H574-82. Epub 2007 Mar 30.

PMID:
17400710
11.

Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1.

Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR.

Hypertension. 2014 Jan;63(1):74-9. doi: 10.1161/HYPERTENSIONAHA.113.02087. Epub 2013 Oct 14.

12.

Hypertension and decreased aortic compliance due to reduced elastin amounts do not increase atherosclerotic plaque accumulation in Ldlr-/- mice.

Maedeker JA, Stoka KV, Bhayani SA, Gardner WS, Bennett L, Procknow JD, Staiculescu MC, Walji TA, Craft CS, Wagenseil JE.

Atherosclerosis. 2016 Jun;249:22-9. doi: 10.1016/j.atherosclerosis.2016.03.022. Epub 2016 Mar 21.

13.

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M.

Am J Med Genet A. 2013 Mar;161A(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7.

PMID:
23401415
14.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.

Am J Med Genet. 1998 Jun 16;78(1):82-9.

PMID:
9637430
15.

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA.

Am J Med Genet A. 2017 Aug;173(8):2235-2239. doi: 10.1002/ajmg.a.38289. Epub 2017 Jun 2.

PMID:
28574231
16.

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A.

Am J Hum Genet. 2002 Jul;71(1):30-44. Epub 2002 May 6.

17.

Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis.

Zhang P, Huang A, Morales-Ruiz M, Starcher BC, Huang Y, Sessa WC, Niklason LE, Giordano FJ.

Hum Gene Ther. 2012 Nov;23(11):1186-99. doi: 10.1089/hum.2011.201.

18.

mTOR (Mechanistic Target of Rapamycin) Inhibition Decreases Mechanosignaling, Collagen Accumulation, and Stiffening of the Thoracic Aorta in Elastin-Deficient Mice.

Jiao Y, Li G, Li Q, Ali R, Qin L, Li W, Qyang Y, Greif DM, Geirsson A, Humphrey JD, Tellides G.

Arterioscler Thromb Vasc Biol. 2017 Sep;37(9):1657-1666. doi: 10.1161/ATVBAHA.117.309653. Epub 2017 Jul 27.

PMID:
28751568
19.

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

Park S, Seo EJ, Yoo HW, Kim Y.

Int J Mol Med. 2006 Aug;18(2):329-32.

PMID:
16820942
20.

Lung matrix and vascular remodeling in mechanically ventilated elastin haploinsufficient newborn mice.

Hilgendorff A, Parai K, Ertsey R, Navarro E, Jain N, Carandang F, Peterson J, Mokres L, Milla C, Preuss S, Alcazar MA, Khan S, Masumi J, Ferreira-Tojais N, Mujahid S, Starcher B, Rabinovitch M, Bland R.

Am J Physiol Lung Cell Mol Physiol. 2015 Mar 1;308(5):L464-78. doi: 10.1152/ajplung.00278.2014. Epub 2014 Dec 24.

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