Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 53

1.

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.

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.

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.

4.

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.

5.

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
6.

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A.

Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31.

PMID:
22653535
7.

Competition between Ski and CREB-binding protein for binding to Smad proteins in transforming growth factor-beta signaling.

Chen W, Lam SS, Srinath H, Schiffer CA, Royer WE Jr, Lin K.

J Biol Chem. 2007 Apr 13;282(15):11365-76. Epub 2007 Feb 5.

8.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.

Hum Mutat. 2006 Aug;27(8):770-7.

PMID:
16799921
9.

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
10.

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC.

Nat Genet. 1996 Feb;12(2):209-11.

PMID:
8563763
11.

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D.

Exp Dermatol. 2008 Apr;17(4):362-5. Epub 2007 Nov 2.

PMID:
17979970
12.

Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome.

Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba K, Toyama Y, Matsumoto M.

J Pediatr Orthop. 2011 Mar;31(2):186-93. doi: 10.1097/BPO.0b013e3182093da5.

PMID:
21307714
13.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
14.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

15.

576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.

Zhu X, Zhang Y, Wang J, Yang JF, Yang YF, Tan ZP.

Gene. 2013 Oct 10;528(2):352-5. doi: 10.1016/j.gene.2013.07.024. Epub 2013 Jul 25.

PMID:
23892090
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.

Crystal structure of the dachshund homology domain of human SKI.

Wilson JJ, Malakhova M, Zhang R, Joachimiak A, Hegde RS.

Structure. 2004 May;12(5):785-92.

18.

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

Horbelt D, Guo G, Robinson PN, Knaus P.

J Cell Sci. 2010 Dec 15;123(Pt 24):4340-50. doi: 10.1242/jcs.074773. Epub 2010 Nov 23.

19.

Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.

De Backer J.

Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Review.

PMID:
20232788
20.

The transforming activity of Ski and SnoN is dependent on their ability to repress the activity of Smad proteins.

He J, Tegen SB, Krawitz AR, Martin GS, Luo K.

J Biol Chem. 2003 Aug 15;278(33):30540-7. Epub 2003 May 22.

Supplemental Content

Support Center