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Items: 1 to 20 of 106

1.

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC.

Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.

2.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.

Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19. Review.

PMID:
24357594
3.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.

Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16.

4.

TGF-β signalopathies as a paradigm for translational medicine.

Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B.

Eur J Med Genet. 2015 Dec;58(12):695-703. doi: 10.1016/j.ejmg.2015.10.010. Epub 2015 Oct 24. Review.

PMID:
26598797
5.

Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.

Cook JR, Carta L, Galatioto J, Ramirez F.

Clin Genet. 2015;87(1):11-20. doi: 10.1111/cge.12436. Epub 2014 Jul 10. Review.

PMID:
24867163
6.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L.

Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25.

7.

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.

8.

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. Epub 2013 Dec 20.

9.

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. Epub 2012 Mar 14.

PMID:
22414221
10.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JM, de Graaf BM, van de Beek G, Gallo E, Kruithof BP, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GW, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IM, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-36. doi: 10.1016/j.jacc.2015.01.040.

11.

Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.

Wheeler JB, Ikonomidis JS, Jones JA.

Adv Exp Med Biol. 2014;802:107-27. doi: 10.1007/978-94-007-7893-1_8. Review.

12.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G.

Mol Cell Probes. 2015 Oct;29(5):330-4. doi: 10.1016/j.mcp.2015.07.003. Epub 2015 Jul 13.

PMID:
26184463
13.

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. Epub 2016 May 13. Review.

14.

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Mizuguchi T, Matsumoto N.

J Hum Genet. 2007;52(1):1-12. Epub 2006 Oct 24. Review.

PMID:
17061023
15.

miR-29b participates in early aneurysm development in Marfan syndrome.

Merk DR, Chin JT, Dake BA, Maegdefessel L, Miller MO, Kimura N, Tsao PS, Iosef C, Berry GJ, Mohr FW, Spin JM, Alvira CM, Robbins RC, Fischbein MP.

Circ Res. 2012 Jan 20;110(2):312-24. doi: 10.1161/CIRCRESAHA.111.253740. Epub 2011 Nov 23.

16.

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Verstraeten A, Alaerts M, Van Laer L, Loeys B.

Hum Mutat. 2016 Jun;37(6):524-31. doi: 10.1002/humu.22977. Epub 2016 Mar 14. Review.

PMID:
26919284
17.

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M.

Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3.

18.

Germline mosacism in Shprintzen-Goldberg syndrome.

Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B.

Am J Med Genet A. 2012 Jul;158A(7):1574-8. doi: 10.1002/ajmg.a.35388. Epub 2012 May 25.

PMID:
22639450
19.

New insights in the pathogenesis of aortic aneurysms.

Loeys B, De Paepe A.

Verh K Acad Geneeskd Belg. 2008;70(2):69-84. Review.

PMID:
18630721
20.

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway.

Gomez D, Al Haj Zen A, Borges LF, Philippe M, Gutierrez PS, Jondeau G, Michel JB, Vranckx R.

J Pathol. 2009 May;218(1):131-42. doi: 10.1002/path.2516.

PMID:
19224541

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