Marini JC - Search Results

1

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.

Fratzl-Zelman N, Roschger P, Kang H, Jha S, Roschger A, Blouin S, Deng Z, Cabral WA, Ivovic A, Katz J, Siegel RM, Klaushofer K, Fratzl P, Bhattacharyya T, Marini JC. Fratzl-Zelman N, et al. Among authors: marini jc. J Bone Miner Res. 2019 May;34(5):883-895. doi: 10.1002/jbmr.3656. Epub 2019 Jan 22. J Bone Miner Res. 2019. PMID: 30667555 Free PMC article. Clinical Trial.

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

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Dawson PA, Kelly TE, Marini JC. Dawson PA, et al. Among authors: marini jc. J Bone Miner Res. 1999 Mar;14(3):449-55. doi: 10.1359/jbmr.1999.14.3.449. J Bone Miner Res. 1999. PMID: 10027910 Free article.

4

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.

5

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

6

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.

7

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.

8

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.

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

253 results

Search Page

Filters