Mottes M - Search Results

1

Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes.

Tenni R, Rossi A, Valli M, Mottes M, Pignatti PF, Cetta G. Tenni R, et al. Among authors: mottes m. Matrix. 1990 Mar;10(1):20-6. doi: 10.1016/s0934-8832(11)80133-2. Matrix. 1990. PMID: 2352509

2

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.

Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti PF, Cetta G. Mottes M, et al. Hum Genet. 1992 Jul;89(5):480-4. doi: 10.1007/BF00219169. Hum Genet. 1992. PMID: 1634225

3

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.

Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF. Valli M, et al. Among authors: mottes m. J Biol Chem. 1991 Jan 25;266(3):1872-8. J Biol Chem. 1991. PMID: 1988452 Free article.

The cysteine was localized within peptide alpha 1(I)CB8 between residues 170 and 200 of the triple helical domain using a chemical procedure with 2-nitro-5-thiocyanobenzoic acid (Tenni, R., Rossi, A., Valli, M., Mottes, M., Pignatti, P. F., and Cetta, G. (199 …

The cysteine was localized within peptide alpha 1(I)CB8 between residues 170 and 200 of the triple helical domain using a chemical procedure …

4

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: mottes m. 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.

5

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Forlino A, Zolezzi F, Valli M, Pignatti PF, Cetta G, Brunelli PC, Mottes M. Forlino A, et al. Among authors: mottes m. Hum Mol Genet. 1994 Dec;3(12):2201-6. doi: 10.1093/hmg/3.12.2201. Hum Mol Genet. 1994. PMID: 7881420

6

Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.

Valli M, Zolezzi F, Mottes M, Antoniazzi F, Stanzial F, Tenni R, Pignatti P, Cetta G. Valli M, et al. Among authors: mottes m. Eur J Biochem. 1993 Oct 1;217(1):77-82. doi: 10.1111/j.1432-1033.1993.tb18220.x. Eur J Biochem. 1993. PMID: 8223589 Free article.

7

Segregation analysis of dominant osteogenesis imperfecta in Italy.

Mottes M, Cugola L, Cappello N, Pignatti PF. Mottes M, et al. J Med Genet. 1990 Jun;27(6):367-70. doi: 10.1136/jmg.27.6.367. J Med Genet. 1990. PMID: 1972760 Free PMC article.

8

Haplotype frequencies of the collagen type-I genes in the Italian population.

Mottes M, Cugola L, Pignatti PF. Mottes M, et al. Hum Genet. 1989 Nov;83(4):369-72. doi: 10.1007/BF00291383. Hum Genet. 1989. PMID: 2572536

9

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

Gomez-Lira M, Sangalli A, Pignatti PF, Digilio MC, Giannotti A, Carnevale E, Mottes M. Gomez-Lira M, et al. Among authors: mottes m. J Med Genet. 1994 Dec;31(12):965-8. doi: 10.1136/jmg.31.12.965. J Med Genet. 1994. PMID: 7891382 Free PMC article.

10

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas CD, Cetta G, Pignatti PF. Mottes M, et al. Hum Genet. 1994 Jun;93(6):681-7. doi: 10.1007/BF00201570. Hum Genet. 1994. PMID: 8005592

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