Terrinoni A - Search Results

1

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).

Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S. Terrinoni A, et al. Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962. Int J Mol Sci. 2023. PMID: 37762265 Free PMC article.

2

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.

Terrinoni A, Leta A, Pedicelli C, Candi E, Ranalli M, Puddu P, Paradis M, Angelo C, Bagetta G, Melino G. Terrinoni A, et al. J Invest Dermatol. 2004 Mar;122(3):837-9. doi: 10.1111/j.0022-202X.2004.22311.x. J Invest Dermatol. 2004. PMID: 15086573 Free article. No abstract available.

3

Evidence for a host role in regulating the activity of transposable elements in Drosophila melanogaster: the case of the persistent instability of Bari 1 elements in Charolles stock.

Junakovic N, Di Franco C, Terrinoni A. Junakovic N, et al. Among authors: terrinoni a. Genetica. 1997;100(1-3):149-54. Genetica. 1997. PMID: 9440267

4

TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria.

Gressner O, Schilling T, Lorenz K, Schulze Schleithoff E, Koch A, Schulze-Bergkamen H, Lena AM, Candi E, Terrinoni A, Catani MV, Oren M, Melino G, Krammer PH, Stremmel W, Müller M. Gressner O, et al. Among authors: terrinoni a. EMBO J. 2005 Jul 6;24(13):2458-71. doi: 10.1038/sj.emboj.7600708. Epub 2005 Jun 9. EMBO J. 2005. PMID: 15944736 Free PMC article.

5

Accumulation of transposable elements in the heterochromatin and on the Y chromosome of Drosophila simulans and Drosophila melanogaster.

Junakovic N, Terrinoni A, Di Franco C, Vieira C, Loevenbruck C. Junakovic N, et al. Among authors: terrinoni a. J Mol Evol. 1998 Jun;46(6):661-8. doi: 10.1007/pl00006346. J Mol Evol. 1998. PMID: 9608048

6

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH. Terron-Kwiatkowski A, et al. Among authors: terrinoni a. Br J Dermatol. 2004 Jun;150(6):1096-103. doi: 10.1111/j.1365-2133.2004.05967.x. Br J Dermatol. 2004. PMID: 15214894

7

Roles for p53 and p73 during oligodendrocyte development.

Billon N, Terrinoni A, Jolicoeur C, McCarthy A, Richardson WD, Melino G, Raff M. Billon N, et al. Among authors: terrinoni a. Development. 2004 Mar;131(6):1211-20. doi: 10.1242/dev.01035. Epub 2004 Feb 11. Development. 2004. PMID: 14960496 Free article.

8

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. Cassidy AJ, et al. Among authors: terrinoni a. Am J Hum Genet. 2005 Dec;77(6):909-17. doi: 10.1086/497707. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380904 Free PMC article.

9

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Terrinoni A, et al. J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x. J Invest Dermatol. 2001. PMID: 11886499 Free article.

10

Potentially active copies of the gypsy retroelement are confined to the Y chromosome of some strains of Drosophila melanogaster possibly as the result of the female-specific effect of the flamenco gene.

Chalvet F, di Franco C, Terrinoni A, Pelisson A, Junakovic N, Bucheton A. Chalvet F, et al. Among authors: terrinoni a. J Mol Evol. 1998 Apr;46(4):437-41. doi: 10.1007/pl00006323. J Mol Evol. 1998. PMID: 9541538

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