Microsoft word - pubs terrinoni.doc

Pubblications
1. Yis Uluc; Terrinoni Allesandro. 2012. Sjogren-Larsson syndrome: report of monozygote
twins and a case with a novel mutation. TURKISH JOURNAL OF PEDIATRICS: 54,1: 64-66 2. Vernole, P., Muzi, A., Volpi, A., Terrinoni, A., Dorio, A. S., Tentori, L., Shah, G. M. &
Graziani, G. 2011. Common fragile sites in colon cancer cell lines: Role of mismatch repair, RAD51 and poly(ADP-ribose) polymerase-1. Mutation Research (3.903), 712, 40-48. 3. Terrinoni, A., Pagani, I. S., Zucchi, I., Chiaravalli, A. M., Serra, V., Rovera, F., Sirchia, S.,
Dionigi, G., Miozzo, M., Frattini, A., Ferrari, A., Capella, C., Pasquali, F., Curto, F. L., Albertini, A., Melino, G. & Porta, G. 2011. OTX1 expression in breast cancer is regulated by p53. Oncogene (7.135). 4. Serra, V., Castori, M., Paradisi, M., Bui, L., Melino, G. & Terrinoni, A. 2011. Functional
characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. American Journal of Medical Genetics Part A (2.404), 155A, 3104-3109. 5. Rufini, S., Lena, A. M., Cadot, B., Mele, S., Amelio, I., Terrinoni, A., Desideri, A., Melino,
G. & Candi, E. 2011. The sterile alpha-motif (SAM) domain of p63 binds in vitro monoasialoganglioside (GM1) micelles. Biochemical Pharmacology (4.254), 82, 1262-1268. 6. Pagani, I. S., Terrinoni, A., Marenghi, L., Zucchi, I., Chiaravalli, A. M., Serra, V., Rovera,
F., Sirchia, S., Dionigi, G., Miozzo, M., Frattini, A., Ferrari, A., Capella, C., Pasquali, F., Lo Curto, F., Albertini, A., Melino, G. & Porta, G. 2011. The mammary gland and the homeobox gene otx1 (vol 16, pg S53, 2010). Breast Journal (1.61), 17, 568-568. 7. Browne, G., Cipollone, R., Lena, A. M., Serra, V., Zhou, H., van Bokhoven, H., Dotsch, V., Merico, D., Mantovani, R., Terrinoni, A., Knight, R. A., Candi, E. & Melino, G. 2011.
Differential altered stability and transcriptional activity of DeltaNp63 mutants in distinct
ectodermal dysplasias. Journal of Cell Science (6.144), 124, 2200-2207.
8. Terrinoni, A., Codispoti, A., Serra, V., Didona, B., Bruno, E., Nistico, R., Giustizieri, M.,
Alessandrini, M., Campione, E. & Melino, G. 2010. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. Biochemical and Biophysical Research Communications (2.548), 394, 909-914. 9. Terrinoni, A., Codispoti, A., Serra, V., Bruno, E., Didona, B., Paradisi, M., Nistico, S.,
Campione, E., Napolitano, B., Diluvio, L. & Melino, G. 2010. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochemical and Biophysical Research Communications (2.548), 395, 25-30. 10. Keller, M. A., Watschinger, K., Golderer, G., Maglione, M., Sarg, B., Lindner, H. H., Werner-Felmayer, G., Terrinoni, A., Wanders, R. J. & Werner, E. R. 2010. Monitoring of
fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.
Journal of Lipid Research (4.917), 51, 1554-1559.
11. Wen, Y., Liu, Y., Xu, Y., Zhao, Y., Hua, R., Wang, K., Sun, M., Li, Y., Yang, S., Zhang, X. J., Kruse, R., Cichon, S., Betz, R. C., Nothen, M. M., van Steensel, M. A., van Geel, M.,
Steijlen, P. M., Hohl, D., Huber, M., Dunnill, G. S., Kennedy, C., Messenger, A., Munro, C.
S., Terrinoni, A., Hovnanian, A., Bodemer, C., de Prost, Y., Paller, A. S., Irvine, A. D.,
Sinclair, R., Green, J., Shang, D., Liu, Q., Luo, Y., Jiang, L., Chen, H. D., Lo, W. H.,
McLean, W. H., He, C. D. & Zhang, X. 2009. Loss-of-function mutations of an inhibitory
upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Nat Genet, 41, 228-233.
12. Vernole, P., Muzi, A., Volpi, A., Dorio, A. S., Terrinoni, A., Shah, G. M. & Graziani, G.
2009. Inhibition of homologous recombination by treatment with BVDU (brivudin) or by RAD51 silencing increases chromosomal damage induced by bleomycin in mismatch repair-deficient tumour cells. Mutation Research (3.903), 664, 39-47. 13. Menghini, R., Casagrande, V., Cardellini, M., Martelli, E., Terrinoni, A., Amati, F., Vasa-
Nicotera, M., Ippoliti, A., Novelli, G., Melino, G., Lauro, R. & Federici, M. 2009. MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1. Circulation (14.816), 120, 1524-1532. 14. Diluvio, L., Campione, E., Paterno, E. J., Orlandi, A., Terrinoni, A. & Chimenti, S. 2009.
Peculiar clinical and dermoscopic remission pattern following imiquimod therapy of basal cell carcinoma in seborrhoeic areas of the face. J Dermatolog Treat, 20, 124-129. 15. Codispoti, A., Colombo, E., Zocchi, L., Serra, V., Pertusi, G., Leigheb, G., Tiberio, R., Bornacina, G., Zuccoli, R., Ramponi, A., Campione, E., Melino, G. & Terrinoni, A. 2009.
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W
transgrediens expression. European Journal of Dermatology (2.251), 19, 114-118.
16. Candi, E., McLean, W. H., Didona, B., Terrinoni, A. & Melino, G. 2009. Cornification
Diseases (Skin Cell Death). (Ed. by ELS). 17. Campione, E., Diluvio, L., Paterno, E. J., Di Marcantonio, D., Francesconi, A., Terrinoni,
A., Orlandi, A. & Chimenti, S. 2009. Kaposi's sarcoma in a patient treated with imatinib mesylate for chronic myeloid leukemia. Clinical Therapeutics (3.25), 31, 2565-2569. 18. Zocchi, L., Bourdon, J. C., Codispoti, A., Knight, R., Lane, D. P., Melino, G. & Terrinoni,
A. 2008. Scotin: A new p63 target gene expressed during epidermal differentiation. Biochemical and Biophysical Research Communications (2.548), 367, 271-276. 19. Candi, E., Cipollone, R., Codispoti, A., Melino, G. & Terrinoni, A. 2008. Transcriptional
study of p63alpha mutants found in ectodermal dysplasia syndromes. Journal of Investigative Dermatology (5.543), 128, S128-S128. 20. Zocchi, L., Terrinoni, A., Candi, E., Ahvazi, B., Bagetta, G., Corasaniti, M. T., Lena, A. M.
& Melino, G. 2007. Identification of transglutaminase 3 splicing isoforms. Journal of Investigative Dermatology (5.543), 127, 1791-1794. 21. Terrinoni, A., Codispoti, A., Paradisi, M., Didona, B. & Melino, G. 2007. Functional
characterization of different Connexin 26 mutants identified in KID Syndrome patients: impairment of membrane trafficking and connexon assembly. Journal of Investigative Dermatology (5.543), 127, S83-S83. 22. Porzio, O., Massa, O., Cunsolo, V., Colombo, C., Malaponti, M., Bertuzzi, F., Hansen, T., Johansen, A., Pedersen, O., Meschi, F., Terrinoni, A., Melino, G., Federici, M., Decarlo,
N., Menicagli, M., Campani, D., Marchetti, P., Ferdaoussi, M., Froguel, P., Federici, G.,
Vaxillaire, M. & Barbetti, F. 2007. Missense mutations in the TGM2 gene encoding
transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief
no. 982. Online. Human Mutation (6.887), 28, 1150.
23. Nucci, C., Gasperi, V., Tartaglione, R., Cerulli, A., Terrinoni, A., Bari, M., De Simone, C.,
Agro, A. F., Morrone, L. A., Corasaniti, M. T., Bagetta, G. & Maccarrone, M. 2007. Involvement of the endocannabinoid system in retinal damage after high intraocular pressure-induced ischemia in rats. Investigative Ophthalmology & Visual Science (3.431), 48, 2997-3004. 24. Didona, B., Codispoti, A., Bertini, E., Rizzo, W. B., Carney, G., Zambruno, G., Dionisi- Vici, C., Paradisi, M., Pedicelli, C., Melino, G. & Terrinoni, A. 2007. Novel and recurrent
ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome. Journal of Human
Genetics (2.547), 52, 865-870.
25. Candi, E., Rufini, A., Terrinoni, A., Giamboi-Miraglia, A., Lena, A. M., Mantovani, R.,
Knight, R. & Melino, G. 2007. DeltaNp63 regulates thymic development through enhanced expression of FgfR2 and Jag2. Proceedings of the National Academy of Sciences of the United States of America (9.432), 104, 11999-12004. 26. Campione, E., Terrinoni, A., Orlandi, A., Codispoti, A., Melino, G., Bianchi, L., Mazzotta,
A., Garaci, F. G., Ludovici, A. & Chimenti, S. 2007. Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene. Journal of Investigative Dermatology (5.543), 127, 2271-2273. 27. Terrinoni, A., Didona, B., Codispoti, A., Zocchi, L. & Melino, G. 2006. The novel
Connexinx 26 Gly11Glu heterozygous mutation is responsible of a case of KID Syndrome, via the impairment of membrane trafficking and connexon assembly. Journal of Investigative Dermatology (5.543), 126, 81-81. 28. Ponassi, R., Terrinoni, A., Chikh, A., Rufini, A., Lena, A. M., Sayan, B. S., Melino, G. &
Candi, E. 2006. p63 and p73, members of the p53 gene family, transactivate PKCdelta. Biochemical Pharmacology (4.254), 72, 1417-1422. 29. Didona, B., Terrinoni, A., Zocchi, L., Codispoti, A. & Melino, G. 2006. A keratin K1
somatic deletion cause a patchy plantar epidermolytic naevus. Journal of Investigative Dermatology (5.543), 126, 84-84. 30. Candi, E., Terrinoni, A., Rufini, A., Chikh, A., Lena, A. M., Suzuki, Y., Sayan, B. S.,
Knight, R. A. & Melino, G. 2006. p63 is upstream of IKK alpha in epidermal development. Journal of Cell Science (6.144), 119, 4617-4622. 31. Candi, E., Rufini, A., Terrinoni, A., Dinsdale, D., Ranalli, M., Paradisi, A., De Laurenzi,
V., Spagnoli, L. G., Catani, M. V., Ramadan, S., Knight, R. A. & Melino, G. 2006. Differential roles of p63 isoforms in epidermal development: selective genetic complementation in p63 null mice. Cell Death and Differentiation (8.24), 13, 1037-1047. 32. Barcaroli, D., Bongiorno-Borbone, L., Terrinoni, A., Hofmann, T. G., Rossi, M., Knight,
R. A., Matera, A. G., Melino, G. & De Laurenzi, V. 2006. FLASH is required for histone transcription and S-phase progression. Proceedings of the National Academy of Sciences of the United States of America (9.432), 103, 14808-14812. 33. van Steensel, M. A., Cassidy, A. J., Steijlen, P. M., van der Velden, J., Morley, S. M., Terrinoni, A., Candi, E. & McLean, W. 2005. Homozygous missense mutations in
transglutaminase 5 cause acral peeling skin syndrome. Journal of Investigative Dermatology
(5.543), 124, A83-A83.
34. Terrinoni, A. & Melino, G. 2005. Recessive EKV. Journal of Investigative Dermatology
35. Ramadan, S., Terrinoni, A., Catani, M. V., Sayan, A. E., Knight, R. A., Mueller, M.,
Krammer, P. H., Melino, G. & Candi, E. 2005. p73 induces apoptosis by different mechanisms. Biochemical and Biophysical Research Communications (2.548), 331, 713-717. 36. Gressner, O., Schilling, T., Lorenz, K., Schulze Schleithoff, E., Koch, A., Schulze- Bergkamen, H., Lena, A. M., Candi, E., Terrinoni, A., Catani, M. V., Oren, M., Melino, G.,
Krammer, P. H., Stremmel, W. & Muller, M. 2005. TAp63alpha induces apoptosis by
activating signaling via death receptors and mitochondria. EMBO Journal (8.993), 24, 2458-
2471.
37. Cassidy, A. J., van Steensel, M. A., Steijlen, P. M., van Geel, M., van der Velden, J., Morley, S. M., Terrinoni, A., Melino, G., Candi, E. & McLean, W. H. 2005. A
homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity
and causes acral peeling skin syndrome. In: American Journal of Human Genetics (12.303),
pp. 909-917.
38. Terron-Kwiatkowski, A., Terrinoni, A., Didona, B., Melino, G., Atherton, D. J., Irvine, A.
D. & McLean, W. H. 2004. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. British Journal of Dermatology (4.26), 150, 1096-1103. 39. Terrinoni, A., Ranalli, M., Cadot, B., Leta, A., Bagetta, G., Vousden, K. H. & Melino, G.
2004. p73-alpha is capable of inducing scotin and ER stress. Oncogene (7.135), 23, 3721-3725. 40. Terrinoni, A., Leta, A., Pedicelli, C., Candi, E., Ranalli, M., Puddu, P., Paradis, M.,
Angelo, C., Bagetta, G. & Melino, G. 2004. A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. Journal of Investigative Dermatology (5.543), 122, 837-839. 41. Terrinoni, A., Cocuroccia, B., Gubinelli, E., Zambruno, G., Candi, E., Melino, G. &
Girolomoni, G. 2004. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. European Journal of Dermatology (2.251), 14, 375-378. 42. Rossi, M., Sayan, A. E., Terrinoni, A., Melino, G. & Knight, R. A. 2004. Mechanism of
induction of apoptosis by p73 and its relevance to neuroblastoma biology. Ann N Y Acad Sci, 1028, 143-149. 43. Porzio, O., Massa, O., Cunsolo, V., Hansen, T., Hattersley, A. T., Njolstad, P. R., Terrinoni, A., Melino, G., Federici, M., Marchetti, P., Colombo, C., Federici, G. &
Barbetti, F. 2004. Mutations of transglutaminase 2 and early onset Type 2 diabetes.
Diabetologia (6.551), 47, A137-A138.
44. Munarriz, E., Barcaroli, D., Stephanou, A., Townsend, P. A., Maisse, C., Terrinoni, A.,
Neale, M. H., Martin, S. J., Latchman, D. S., Knight, R. A., Melino, G. & De Laurenzi, V. 2004. PIAS-1 is a checkpoint regulator which affects exit from G1 and G2 by sumoylation of p73. Molecular and Cellular Biology (6.057), 24, 10593-10610. 45. Candi, E., Paradisi, A., Terrinoni, A., Pietroni, V., Oddi, S., Cadot, B., Jogini, V.,
Meiyappan, M., Clardy, J., Finazzi-Agro, A. & Melino, G. 2004. Transglutaminase 5 is regulated by guanine-adenine nucleotides. Biochemical Journal (5.155), 381, 313-319. 46. Billon, N., Terrinoni, A., Jolicoeur, C., McCarthy, A., Richardson, W. D., Melino, G. &
Raff, M. 2004. Roles for p53 and p73 during oligodendrocyte development. Development (7.194), 131, 1211-1220. 47. Marulli, G. C., Campione, E., Chimenti, M. S., Terrinoni, A., Melino, G. & Bianchi, L.
2003. Type I lamellar ichthyosis improved by tazarotene 0.1% gel. Clinical and Experimental Dermatology (1.55), 28, 391-393. 48. Pucci, B., Claudio, P. P., Masciullo, V., Bellincampi, L., Terrinoni, A., Khalili, K., Melino,
G. & Giordano, A. 2002. pRb2/p130 promotes radiation-induced cell death in the glioblastoma cell line HJC12 by p73 upregulation and Bcl-2 downregulation. Oncogene (7.135), 21, 5897-5905. 49. Candi, E., Paradisi, A., Terrinoni, A., Cadot, B., Rufini, A., Puddu, P. & Melino, G. 2002.
Role of transglutaminase 5 in epidermis. Minerva Biotecnologica (0.268), 14, 155-158. 50. Candi, E., Oddi, S., Paradisi, A., Terrinoni, A., Ranalli, M., Teofoli, P., Citro, G., Scarpato,
S., Puddu, P. & Melino, G. 2002. Expression of transglutaminase 5 in normal and pathologic human epidermis. Journal of Investigative Dermatology (5.543), 119, 670-677. 51. Bernassola, F., Federici, M., Corazzari, M., Terrinoni, A., Hribal, M. L., De Laurenzi, V.,
Ranalli, M., Massa, O., Sesti, G., McLean, W. H., Citro, G., Barbetti, F. & Melino, G. 2002. Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB Journal (6.401), 16, 1371-1378. 52. Terrinoni, A., Smith, F. J., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D.,
David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G. & McLean, W. H. 2001. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. Journal of Investigative Dermatology (5.543), 117, 1391-1396. 53. Terrinoni, A., Rugg, E. L., Lane, E. B., Melino, G., Felix, D. H., Munro, C. S. & McLean,
W. H. 2001. A novel mutation in the keratin 13 gene causing oral white sponge nevus. Journal of Dental Research (3.458), 80, 919-923. 54. Terrinoni, A., Dell'Arciprete, R., Fornaro, M., Stella, M. & Alberti, S. 2001. Cyclin D1
gene contains a cryptic promoter that is functional in human cancer cells. Genes Chromosomes Cancer, 31, 209-220. 55. Candi, E., Oddi, S., Terrinoni, A., Paradisi, A., Ranalli, M., Finazzi-Agro, A. & Melino, G.
2001. Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro. Journal of Biological Chemistry (5.328), 276, 35014-35023. 56. Vernole, P., Terrinoni, A., Didona, B., De Laurenzi, V., Rossi, P., Melino, G. & Grimaldi,
P. 2000. An SRY-negative XX male with Huriez syndrome. Clinical Genetics (3.304), 57, 61-66. 57. Terron, A., Terrinoni, A., Melino, G., Atherton, D. J., Irvine, A. D. & McLean, W. H. I.
2000. Keratin 1 mutation I479T leads to a phenotype closely resembling the keratin 9 disorder epidermolytic palmoplantar keratoderma. Journal of Medical Genetics (5.751), 37, S23-S23. 58. Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J., McLean, W.
H. & Melino, G. 2000. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. Journal of Investigative Dermatology (5.543), 114, 1136-1140. 59. Terrinoni, A., Candi, E., Oddi, S., Gobello, T., Camaione, D. B., Mazzanti, C., Zambruno,
G., Knight, R. & Melino, G. 2000. A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. Journal of Investigative Dermatology (5.543), 114, 388-391. 60. Richard, G., Brown, N., Smith, L. E., Terrinoni, A., Melino, G., Mackie, R. M., Bale, S. J.
& Uitto, J. 2000. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Human Genetics (4.523), 106, 321-329. 61. De Laurenzi, V., Rossi, A., Terrinoni, A., Barcaroli, D., Levrero, M., Costanzo, A., Knight,
R. A., Guerrieri, P. & Melino, G. 2000. p63 and p73 transactivate differentiation gene promoters in human keratinocytes. Biochemical and Biophysical Research Communications (2.548), 273, 342-346. 62. De Laurenzi, V. D., Catani, M. V., Terrinoni, A., Corazzari, M., Melino, G., Costanzo, A.,
Levrero, M. & Knight, R. A. 1999. Additional complexity in p73: induction by mitogens in lymphoid cells and identification of two new splicing variants epsilon and zeta. Cell Death and Differentiation (8.24), 6, 389-390. 63. Melino, G., De Laurenzi, V., Catani, M. V., Terrinoni, A., Ciani, B., Candi, E., Marekov,
L. & Steinert, P. M. 1998. The cornified envelope: a model of cell death in the skin. Results Probl Cell Differ, 24, 175-212. 64. Junakovic, N., Terrinoni, A., Di Franco, C., Vieira, C. & Loevenbruck, C. 1998.
Accumulation of transposable elements in the heterochromatin and on the Y chromosome of Drosophila simulans and Drosophila melanogaster. Journal of Molecular Evolution (2.323), 46, 661-668. 65. De Laurenzi, V., Costanzo, A., Barcaroli, D., Terrinoni, A., Falco, M., Annicchiarico-
Petruzzelli, M., Levrero, M. & Melino, G. 1998. Two new p73 splice variants, gamma and delta, with different transcriptional activity. Journal of Experimental Medicine (14.505), 188, 1763-1768. 66. Chalvet, F., di Franco, C., Terrinoni, A., Pelisson, A., Junakovic, N. & Bucheton, A. 1998.
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. Journal of Molecular Evolution (2.323), 46, 437-441. 67. Terrinoni, A., Franco, C. D., Dimitri, P. & Junakovic, N. 1997. Intragenomic distribution
and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: non-LTR retrotransposon. Journal of Molecular Evolution (2.323), 45, 145-153. 68. Mostaccioli, S., De Laurenzi, V., Terrinoni, A., Richard, G., Didona, B., Cavalieri, R. &
Melino, G. 1997. White sponge nevus is caused by mutation in mucosal keratins. European Journal of Dermatology (2.251), 7, 405-408. 69. Junakovic, N., Di Franco, C. & Terrinoni, A. 1997. 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. Genetica (2.092), 100, 149-154. 70. Di Franco, C., Terrinoni, A., Dimitri, P. & Junakovic, N. 1997. Intragenomic distribution
and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: elements with inverted repeats Bari 1, hobo, and pogo. Journal of Molecular Evolution (2.323), 45, 247-252. 71. Di Franco, C., Terrinoni, A., Galuppi, D. & Junakovic, N. 1995. DNA extraction from
single Drosophila flies. Drosophila Information Service, 76, 172-174.

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