Forlino A - Search Results

1

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach.

Bianchi L, Gagliardi A, Gioia R, Besio R, Tani C, Landi C, Cipriano M, Gimigliano A, Rossi A, Marini JC, Forlino A, Bini L. Bianchi L, et al. Among authors: forlino a. J Proteomics. 2012 Aug 3;75(15):4717-33. doi: 10.1016/j.jprot.2012.01.038. Epub 2012 Feb 18. J Proteomics. 2012. PMID: 22846432 Free PMC article.

2

Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.

Valli M, Sangalli A, Rossi A, Mottes M, Forlino A, Tenni R, Pignatti PF, Cetta G. Valli M, et al. Among authors: forlino a. Eur J Biochem. 1993 Feb 1;211(3):415-9. doi: 10.1111/j.1432-1033.1993.tb17565.x. Eur J Biochem. 1993. PMID: 7679635 Free article.

3

Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta.

Cetta G, Rossi A, Tenni R, Valli M, Forlino A, Zanaboni G, Dyne K, Burgio GR. Cetta G, et al. Among authors: forlino a. Connect Tissue Res. 1993;29(1):41-9. doi: 10.3109/03008209309061965. Connect Tissue Res. 1993. PMID: 8339545

4

Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta.

Valli M, Rossi A, Forlino A, Tenni R, Cetta G. Valli M, et al. Among authors: forlino a. Matrix. 1993 Jul;13(4):275-80. doi: 10.1016/s0934-8832(11)80022-3. Matrix. 1993. PMID: 8412984

5

Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.

Dyne KM, Valli M, Forlino A, Mottes M, Kresse H, Cetta G. Dyne KM, et al. Among authors: forlino a. Am J Med Genet. 1996 May 3;63(1):161-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8723103 Review.

6

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: forlino a. 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.

7

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: forlino a. 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.

8

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. Biochem Mol Med. 1997 Oct;62(1):26-35. doi: 10.1006/bmme.1997.2620. Biochem Mol Med. 1997. PMID: 9367795

9

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: forlino a. 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

10

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. Matrix Biol. 1998 Dec;17(8-9):575-84. doi: 10.1016/s0945-053x(98)90109-3. Matrix Biol. 1998. PMID: 9923651

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