Marini JC - Search Results

1

Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta.

Forlino A, Tani C, Rossi A, Lupi A, Campari E, Gualeni B, Bianchi L, Armini A, Cetta G, Bini L, Marini JC. Forlino A, et al. Among authors: marini jc. Proteomics. 2007 Jun;7(11):1877-91. doi: 10.1002/pmic.200600919. Proteomics. 2007. PMID: 17520686

2

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.

Wang Q, Forlino A, Marini JC. Wang Q, et al. Among authors: marini jc. J Biol Chem. 1996 Nov 8;271(45):28617-23. doi: 10.1074/jbc.271.45.28617. J Biol Chem. 1996. PMID: 8910493 Free article.

3

Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects.

Grassi G, Forlino A, Marini JC. Grassi G, et al. Among authors: marini jc. Nucleic Acids Res. 1997 Sep 1;25(17):3451-8. doi: 10.1093/nar/25.17.3451. Nucleic Acids Res. 1997. PMID: 9254703 Free PMC article.

4

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.

Forlino A, D'amato E, Valli M, Camera G, Hopkins E, Marini JC, Cetta G, Coviello DA. Forlino A, et al. Among authors: marini jc. Biochem Mol Med. 1997 Oct;62(1):26-35. doi: 10.1006/bmme.1997.2620. Biochem Mol Med. 1997. PMID: 9367795

5

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

6

An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta.

Forlino A, Keene DR, Schmidt K, Marini JC. Forlino A, et al. Among authors: marini jc. Matrix Biol. 1998 Dec;17(8-9):575-84. doi: 10.1016/s0945-053x(98)90109-3. Matrix Biol. 1998. PMID: 9923651

7

Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice.

Forlino A, Porter FD, Lee EJ, Westphal H, Marini JC. Forlino A, et al. Among authors: marini jc. J Biol Chem. 1999 Dec 31;274(53):37923-31. doi: 10.1074/jbc.274.53.37923. J Biol Chem. 1999. PMID: 10608859 Free article.

8

Osteogenesis imperfecta: prospects for molecular therapeutics.

Forlino A, Marini JC. Forlino A, et al. Among authors: marini jc. Mol Genet Metab. 2000 Sep-Oct;71(1-2):225-32. doi: 10.1006/mgme.2000.3039. Mol Genet Metab. 2000. PMID: 11001814 Review.

9

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.

10

Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength.

Kozloff KM, Carden A, Bergwitz C, Forlino A, Uveges TE, Morris MD, Marini JC, Goldstein SA. Kozloff KM, et al. Among authors: marini jc. J Bone Miner Res. 2004 Apr;19(4):614-22. doi: 10.1359/JBMR.040111. Epub 2004 Jan 12. J Bone Miner Res. 2004. PMID: 15005849 Free article.

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