Marini JC - Search Results

1

Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix.

Terajima M, Taga Y, Cabral WA, Nagasawa M, Sumida N, Hattori S, Marini JC, Yamauchi M. Terajima M, et al. Among authors: marini jc. J Proteome Res. 2017 Aug 4;16(8):2914-2923. doi: 10.1021/acs.jproteome.7b00190. Epub 2017 Jul 25. J Proteome Res. 2017. PMID: 28696707

2

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

Sarafova AP, Choi H, Forlino A, Gajko A, Cabral WA, Tosi L, Reing CM, Marini JC. Sarafova AP, et al. Among authors: marini jc. Hum Mutat. 1998;11(5):395-403. doi: 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4. Hum Mutat. 1998. PMID: 9600458

3

COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.

Bouma P, Cabral WA, Cole WG, Marini JC. Bouma P, et al. Among authors: marini jc. J Biol Chem. 2001 Apr 20;276(16):13356-64. doi: 10.1074/jbc.M011742200. Epub 2001 Jan 19. J Biol Chem. 2001. PMID: 11278977 Free article.

4

G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.

Cabral WA, Chernoff EJ, Marini JC. Cabral WA, et al. Among authors: marini jc. Mol Genet Metab. 2001 Apr;72(4):326-35. doi: 10.1006/mgme.2001.3155. Mol Genet Metab. 2001. PMID: 11286507

5

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.

Cabral WA, Fertala A, Green LK, Korkko J, Forlino A, Marini JC. Cabral WA, et al. Among authors: marini jc. J Biol Chem. 2002 Feb 8;277(6):4215-22. doi: 10.1074/jbc.M109048200. Epub 2001 Nov 8. J Biol Chem. 2002. PMID: 11706004 Free article.

6

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.

Cabral WA, Mertts MV, Makareeva E, Colige A, Tekin M, Pandya A, Leikin S, Marini JC. Cabral WA, et al. Among authors: marini jc. J Biol Chem. 2003 Mar 21;278(12):10006-12. doi: 10.1074/jbc.M212523200. Epub 2003 Jan 20. J Biol Chem. 2003. PMID: 12538651 Free article.

7

High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.

Cabral WA, Marini JC. Cabral WA, et al. Among authors: marini jc. Am J Hum Genet. 2004 Apr;74(4):752-60. doi: 10.1086/383252. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024692 Free PMC article.

8

Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.

Kuznetsova NV, Forlino A, Cabral WA, Marini JC, Leikin S. Kuznetsova NV, et al. Among authors: marini jc. Matrix Biol. 2004 May;23(2):101-12. doi: 10.1016/j.matbio.2004.03.002. Matrix Biol. 2004. PMID: 15246109

9

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN. Walker LC, et al. Among authors: marini jc. Am J Med Genet A. 2004 Dec 1;131(2):155-62. doi: 10.1002/ajmg.a.30302. Am J Med Genet A. 2004. PMID: 15523625

10

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN. Walker LC, et al. Among authors: marini jc. Mol Genet Metab. 2004 Dec;83(4):312-21. doi: 10.1016/j.ymgme.2004.07.013. Mol Genet Metab. 2004. PMID: 15589118

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