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Items: 1 to 20 of 236

1.

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.

Gallo EM, Loch DC, Habashi JP, Calderon JF, Chen Y, Bedja D, van Erp C, Gerber EE, Parker SJ, Sauls K, Judge DP, Cooke SK, Lindsay ME, Rouf R, Myers L, ap Rhys CM, Kent KC, Norris RA, Huso DL, Dietz HC.

J Clin Invest. 2014 Jan;124(1):448-60. doi: 10.1172/JCI69666.

2.

Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.

Dewan AK, Tomlinson RE, Mitchell S, Goh BC, Yung RM, Kumar S, Tan EW, Faugere MC, Dietz HC 3rd, Clemens TL, Sponseller PD.

J Orthop Res. 2015 Oct;33(10):1447-54. doi: 10.1002/jor.22920.

3.

Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways?

Davis F, Rateri DL, Daugherty A.

J Clin Invest. 2014 Jan;124(1):79-81. doi: 10.1172/JCI73906.

4.

Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.

Moltzer E, te Riet L, Swagemakers SM, van Heijningen PM, Vermeij M, van Veghel R, Bouhuizen AM, van Esch JH, Lankhorst S, Ramnath NW, de Waard MC, Duncker DJ, van der Spek PJ, Rouwet EV, Danser AH, Essers J.

PLoS One. 2011;6(8):e23411. doi: 10.1371/journal.pone.0023411.

5.

Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes.

Takeda N, Yagi H, Hara H, Fujiwara T, Fujita D, Nawata K, Inuzuka R, Taniguchi Y, Harada M, Toko H, Akazawa H, Komuro I.

Int Heart J. 2016 May 25;57(3):271-7. doi: 10.1536/ihj.16-094. Review.

6.

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24.

7.

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Cardoso S, Robertson SP, Daniel PB.

J Recept Signal Transduct Res. 2012 Jun;32(3):150-5. doi: 10.3109/10799893.2012.664553.

PMID:
22414221
8.

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

Breckpot J, Budts W, De Zegher F, Vermeesch JR, Devriendt K.

Eur J Med Genet. 2010 Nov-Dec;53(6):408-10. doi: 10.1016/j.ejmg.2010.08.004.

PMID:
20813212
9.

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

10.

Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.

Wellbrock J, Sheikhzadeh S, Oliveira-Ferrer L, Stamm H, Hillebrand M, Keyser B, Klokow M, Vohwinkel G, Bonk V, Otto B, Streichert T, Balabanov S, Hagel C, Rybczynski M, Bentzien F, Bokemeyer C, von Kodolitsch Y, Fiedler W.

PLoS One. 2014 Aug 12;9(8):e104742. doi: 10.1371/journal.pone.0104742.

11.

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K.

Turk J Pediatr. 2012 Mar-Apr;54(2):198-202.

PMID:
22734312
12.

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S.

Clin Immunol. 2014 Jan;150(1):43-50. doi: 10.1016/j.clim.2013.11.008.

PMID:
24333532
13.

Smad4 Deficiency in Smooth Muscle Cells Initiates the Formation of Aortic Aneurysm.

Zhang P, Hou S, Chen J, Zhang J, Lin F, Ju R, Cheng X, Ma X, Song Y, Zhang Y, Zhu M, Du J, Lan Y, Yang X.

Circ Res. 2016 Feb 5;118(3):388-99. doi: 10.1161/CIRCRESAHA.115.308040.

14.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

15.

Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis.

Li W, Li Q, Jiao Y, Qin L, Ali R, Zhou J, Ferruzzi J, Kim RW, Geirsson A, Dietz HC, Offermanns S, Humphrey JD, Tellides G.

J Clin Invest. 2014 Feb;124(2):755-67. doi: 10.1172/JCI69942.

16.

Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.

Iwata J, Hacia JG, Suzuki A, Sanchez-Lara PA, Urata M, Chai Y.

J Clin Invest. 2012 Mar;122(3):873-85. doi: 10.1172/JCI61498.

17.

Glucocorticoids recruit Tgfbr3 and Smad1 to shift transforming growth factor-β signaling from the Tgfbr1/Smad2/3 axis to the Acvrl1/Smad1 axis in lung fibroblasts.

Schwartze JT, Becker S, Sakkas E, Wujak ŁA, Niess G, Usemann J, Reichenberger F, Herold S, Vadász I, Mayer K, Seeger W, Morty RE.

J Biol Chem. 2014 Feb 7;289(6):3262-75. doi: 10.1074/jbc.M113.541052.

18.

Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome.

Cook JR, Clayton NP, Carta L, Galatioto J, Chiu E, Smaldone S, Nelson CA, Cheng SH, Wentworth BM, Ramirez F.

Arterioscler Thromb Vasc Biol. 2015 Apr;35(4):911-7. doi: 10.1161/ATVBAHA.114.305150.

19.

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Akazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T, Koike K.

Am J Med Genet A. 2015 Oct;167A(10):2435-9. doi: 10.1002/ajmg.a.37202.

PMID:
26096872
20.

Loeys-Dietz syndrome.

Van Laer L, Dietz H, Loeys B.

Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Review.

PMID:
24443023

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