Pinotti M - Search Results

1

Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.

Chollet ME, Andersen E, Skarpen E, Myklebust CF, Koehler C, Morth JP, Chuansumrit A, Pinotti M, Bernardi F, Thiede B, Sandset PM, Skretting G. Chollet ME, et al. Among authors: pinotti m. Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):660-667. doi: 10.1016/j.bbadis.2017.12.016. Epub 2017 Dec 12. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29246447 Free article.

2

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, Casonato A, Girolami A, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Hum Genet. 1992 Jul;89(5):497-502. doi: 10.1007/BF00219173. Hum Genet. 1992. PMID: 1634227

3

PCR detection of a repeat polymorphism within the F7 gene.

Marchetti G, Gemmati D, Patracchini P, Pinotti M, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Nucleic Acids Res. 1991 Aug 25;19(16):4570. doi: 10.1093/nar/19.16.4570-a. Nucleic Acids Res. 1991. PMID: 1886792 Free PMC article.

4

Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

Marchetti G, Castaman G, Pinotti M, Lunghi B, Di Iasio MG, Ruggieri M, Rodeghiero F, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Br J Haematol. 1995 Aug;90(4):910-5. doi: 10.1111/j.1365-2141.1995.tb05214.x. Br J Haematol. 1995. PMID: 7669671

5

Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

Bernardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G. Bernardi F, et al. Among authors: pinotti m. Hum Mol Genet. 1994 Jul;3(7):1175-7. doi: 10.1093/hmg/3.7.1175. Hum Mol Genet. 1994. PMID: 7981691 No abstract available.

6

Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

Bernardi F, Liney DL, Patracchini P, Gemmati D, Legnani C, Arcieri P, Pinotti M, Redaelli R, Ballerini G, Pemberton S, et al. Bernardi F, et al. Among authors: pinotti m. Br J Haematol. 1994 Mar;86(3):610-8. doi: 10.1111/j.1365-2141.1994.tb04793.x. Br J Haematol. 1994. PMID: 8043443

7

Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma.

Bernardi F, Marchetti G, Pinotti M, Arcieri P, Baroncini C, Papacchini M, Zepponi E, Ursicino N, Chiarotti F, Mariani G. Bernardi F, et al. Among authors: pinotti m. Arterioscler Thromb Vasc Biol. 1996 Jan;16(1):72-6. Arterioscler Thromb Vasc Biol. 1996. PMID: 8548429

8

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

Bernardi F, Castaman G, Pinotti M, Ferraresi P, Di Iasio MG, Lunghi B, Rodeghiero F, Marchetti G. Bernardi F, et al. Among authors: pinotti m. Hum Mutat. 1996;8(2):108-15. doi: 10.1002/(SICI)1098-1004(1996)8:2<108::AID-HUMU2>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8844208

9

Contribution of factor VII genotype to activated FVII levels. Differences in genotype frequencies between northern and southern European populations.

Bernardi F, Arcieri P, Bertina RM, Chiarotti F, Corral J, Pinotti M, Prydz H, Samama M, Sandset PM, Strom R, Garcia VV, Mariani G. Bernardi F, et al. Among authors: pinotti m. Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):2548-53. doi: 10.1161/01.atv.17.11.2548. Arterioscler Thromb Vasc Biol. 1997. PMID: 9409226

10

Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.

Pinotti M, Toso R, Redaelli R, Berrettini M, Marchetti G, Bernardi F. Pinotti M, et al. Blood. 1998 Sep 1;92(5):1646-51. Blood. 1998. PMID: 9716592 Free article.

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