Marini JC - Search Results

1

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC. Cabral WA, et al. Among authors: marini jc. PLoS Genet. 2014 Jun 26;10(6):e1004465. doi: 10.1371/journal.pgen.1004465. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24968150 Free PMC article.

2

Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

Marini JC, Lewis MB, Chen K. Marini JC, et al. Am J Med Genet. 1993 Jan 15;45(2):241-5. doi: 10.1002/ajmg.1320450217. Am J Med Genet. 1993. PMID: 8456809

3

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

4

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

5

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.

6

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.

7

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

8

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.

9

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.

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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