Susic M - Search Results

1

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D. Ho MS, et al. Among authors: susic m. Hum Mol Genet. 2007 May 15;16(10):1201-15. doi: 10.1093/hmg/ddm067. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403716

2

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. Jakkula E, et al. Among authors: susic m. Eur J Hum Genet. 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. Eur J Hum Genet. 2005. PMID: 15523498

3

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG. Mäkitie O, et al. Among authors: susic m. Am J Med Genet A. 2005 Sep 1;137A(3):241-8. doi: 10.1002/ajmg.a.30855. Am J Med Genet A. 2005. PMID: 16088909

4

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.

Mäkitie O, Susic M, Cole WG. Mäkitie O, et al. Among authors: susic m. J Orthop Res. 2010 Nov;28(11):1497-501. doi: 10.1002/jor.21161. J Orthop Res. 2010. PMID: 20872587 Free article.

5

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Michalickova K, et al. Among authors: susic m. Hum Mol Genet. 1998 Feb;7(2):249-55. doi: 10.1093/hmg/7.2.249. Hum Mol Genet. 1998. PMID: 9425231

6

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O. Ridanpää M, et al. Among authors: susic m. J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741. J Med Genet. 2003. PMID: 14569119 Free PMC article.

7

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. Wenstrup RJ, et al. Among authors: susic m. Am J Hum Genet. 2000 Jun;66(6):1766-76. doi: 10.1086/302930. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777716 Free PMC article.

8

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.

Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ, Cole WG. Hecht JT, et al. Among authors: susic m. J Orthop Res. 2004 Jul;22(4):759-67. doi: 10.1016/j.orthres.2003.11.010. J Orthop Res. 2004. PMID: 15183431 Free article.

9

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG. Avcin T, et al. Among authors: susic m. J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15. J Rheumatol. 2008. PMID: 18381781

10

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. Mäkitie O, et al. Among authors: susic m. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. doi: 10.1002/ajmg.a.20282. Am J Med Genet A. 2003. PMID: 12966518

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