Forlino A - Search Results

1

Zebrafish Tric-b is required for skeletal development and bone cells differentiation.

Tonelli F, Leoni L, Daponte V, Gioia R, Cotti S, Fiedler IAK, Larianova D, Willaert A, Coucke PJ, Villani S, Busse B, Besio R, Rossi A, Witten PE, Forlino A. Tonelli F, et al. Among authors: forlino a. Front Endocrinol (Lausanne). 2023 Jan 23;14:1002914. doi: 10.3389/fendo.2023.1002914. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36755921 Free PMC article.

2

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. 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.

3

Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils.

Raspanti M, Viola M, Forlino A, Tenni R, Gruppi C, Tira ME. Raspanti M, et al. Among authors: forlino a. J Struct Biol. 2008 Oct;164(1):134-9. doi: 10.1016/j.jsb.2008.07.001. Epub 2008 Jul 10. J Struct Biol. 2008. PMID: 18664384

4

Current and emerging treatments for the management of osteogenesis imperfecta.

Monti E, Mottes M, Fraschini P, Brunelli P, Forlino A, Venturi G, Doro F, Perlini S, Cavarzere P, Antoniazzi F. Monti E, et al. Among authors: forlino a. Ther Clin Risk Manag. 2010 Sep 7;6:367-81. doi: 10.2147/tcrm.s5932. Ther Clin Risk Manag. 2010. PMID: 20856683 Free PMC article.

5

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: forlino a. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.

6

Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency.

Di Rocco M, Fantasia AR, Taro M, Loy A, Forlino A, Martini A. Di Rocco M, et al. Among authors: forlino a. J Inherit Metab Dis. 2007 Oct;30(5):814. doi: 10.1007/s10545-007-0496-z. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570078

7

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

8

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.

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

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, Cetta G. Forlino A, et al. Hum Genet. 2002 Oct;111(4-5):314-22. doi: 10.1007/s00439-002-0792-5. Epub 2002 Aug 14. Hum Genet. 2002. PMID: 12384772

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