Marini JC - Search Results

1

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

Kang H, Jha S, Ivovic A, Fratzl-Zelman N, Deng Z, Mitra A, Cabral WA, Hanson EP, Lange E, Cowen EW, Katz J, Roschger P, Klaushofer K, Dale RK, Siegel RM, Bhattacharyya T, Marini JC. Kang H, et al. Among authors: marini jc. J Exp Med. 2020 May 4;217(5):e20191499. doi: 10.1084/jem.20191499. J Exp Med. 2020. PMID: 32232430 Free PMC article.

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

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. Cabral WA, et al. Among authors: marini jc. J Biol Chem. 2005 May 13;280(19):19259-69. doi: 10.1074/jbc.M414698200. Epub 2005 Feb 22. J Biol Chem. 2005. PMID: 15728585 Free article.

10

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.

Makareeva E, Cabral WA, Marini JC, Leikin S. Makareeva E, et al. Among authors: marini jc. J Biol Chem. 2006 Mar 10;281(10):6463-70. doi: 10.1074/jbc.M511830200. Epub 2006 Jan 5. J Biol Chem. 2006. PMID: 16407265 Free article.

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