PubMed (OMIM) for id: 231160

Year	Number of Results
1982	1
1986	1
1987	1
1989	1
1990	1
1995	2
1996	2
1997	5
1998	2
1999	2
2000	1
2001	2
2002	4
2004	1
2005	1
2023	0

1

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.

2

The protooncogene Ski controls Schwann cell proliferation and myelination.

Atanasoski S, Notterpek L, Lee HY, Castagner F, Young P, Ehrengruber MU, Meijer D, Sommer L, Stavnezer E, Colmenares C, Suter U. Atanasoski S, et al. Neuron. 2004 Aug 19;43(4):499-511. doi: 10.1016/j.neuron.2004.08.001. Neuron. 2004. PMID: 15312649 Free article.

3

Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling.

Wu JW, Krawitz AR, Chai J, Li W, Zhang F, Luo K, Shi Y. Wu JW, et al. Cell. 2002 Nov 1;111(3):357-67. doi: 10.1016/s0092-8674(02)01006-1. Cell. 2002. PMID: 12419246 Free article.

4

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.

Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N. Okamoto N, et al. J Hum Genet. 2002;47(10):556-9. doi: 10.1007/s100380200085. J Hum Genet. 2002. PMID: 12376748

5

Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years.

Stoll C. Stoll C. Clin Dysmorphol. 2002 Jan;11(1):1-7. doi: 10.1097/00019605-200201000-00001. Clin Dysmorphol. 2002. PMID: 11822698

6

Increased susceptibility to tumorigenesis of ski-deficient heterozygous mice.

Shinagawa T, Nomura T, Colmenares C, Ohira M, Nakagawara A, Ishii S. Shinagawa T, et al. Oncogene. 2001 Dec 6;20(56):8100-8. doi: 10.1038/sj.onc.1204987. Oncogene. 2001. PMID: 11781823

7

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.

Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E. Colmenares C, et al. Nat Genet. 2002 Jan;30(1):106-9. doi: 10.1038/ng770. Epub 2001 Dec 3. Nat Genet. 2002. PMID: 11731796

8

Ectopic expression of c-ski disrupts gastrulation and neural patterning in zebrafish.

Kaufman CD, Martínez-Rodriguez G, Hackett PB Jr. Kaufman CD, et al. Mech Dev. 2000 Jul;95(1-2):147-62. doi: 10.1016/s0925-4773(00)00351-8. Mech Dev. 2000. PMID: 10906458 Free article.

9

Interaction of the Ski oncoprotein with Smad3 regulates TGF-beta signaling.

Sun Y, Liu X, Eaton EN, Lane WS, Lodish HF, Weinberg RA. Sun Y, et al. Mol Cell. 1999 Oct;4(4):499-509. doi: 10.1016/s1097-2765(00)80201-4. Mol Cell. 1999. PMID: 10549282 Free article.

10

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.

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