Bibliografie - Associazione Italiana Sindrome EEC

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1) Di Iorio E, Barbaro V, Ruzza A, Ponzin D, Pellegrini G, De Luca M. Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9523-8.

2) Di Iorio E, Barbaro V, Ferrari S, Ortolani C, De Luca M, Pellegrini G. Q-FIHC: quantification of fluorescence immunohistochemistry to analyse p63 isoforms and cell cycle phases in human limbal stem cells. Microsc Res Tech. 2006;69(12):983-91.

3) Barbaro V, Testa A, Di Iorio E, Mavilio F, Pellegrini G, De Luca M. C/EBPdelta regulates cell cycle and self-renewal of human limbal stem cells. J Cell Biol. 2007 Jun 18;177(6):1037-49.

4) Mavilio F, Pellegrini G, Ferrari S, Di Nunzio F, Di Iorio E, Recchia A, Maruggi G, Ferrari G, Provasi E, Bonini C, Capurro S, Conti A, Magnoni C, Giannetti A, De Luca M. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12(12):1397-402.

5) Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol. 1996;5(2):115-27.

6) Nardi AC, Ferreira U, Netto Júnior NR, Magna LA, Rodini ES, Richieri-Costa A. Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. Am J Med Genet. 1992;44(6):803-6.

7) Obel N, Hansen B, Black FT. Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). Clin Genet. 1993;43(3):146-9.

8) Käsmann B, Ruprecht KW.Ocular manifestations in a father and son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol. 1997;235(8):512-6.

9) Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999;99(2):143-53.

10) Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle. 2007;6(3):262-8.

11) van Bokhoven H, Brunner HG. Splitting p63. Am J Hum Genet. 2002 Jul;71(1):1-13.

12) van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001;69(3):481-92.

13) Lohrum MA, Vousden KH. Regulation and function of the p53-related proteins: same family, different rules. Trends Cell Biol. 2000;10(5):197-202.

14) Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999;398(6729):708-13.

15) Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999;398(6729):714-8.

16) Yang A, et al. Nature (London). 2000;404:99-103.

17) Yang A, McKeon F. P63 and P73: P53 mimics, menaces and more. Nat Rev Mol Cell Biol. 2000 Dec;1(3):199-207.

18) Willoughby C, et al FRCOphth Lecturer in Ophthalmology

19) Thurfjell N, Coates PJ, Uusitalo T, Mahani D, Dabelsteen E, Dahlqvist A, Sjöström B, Roos G, Nylander K. Complex p63 mRNA isoform expression patterns in squamous cell carcinoma of the head and neck. Int J Oncol. 2004 Jul;25(1):27-35.

20) Hickerson RP, Smith FJ, Reeves RE, Contag CH, Leake D, Leachman SA, Milstone LM, McLean WH, Kaspar RL. Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol. 2008 Mar;128(3):594-605.

21) Miller VM, Xia H, Marrs GL, Gouvion CM, Lee G, Davidson BL, Paulson HL. Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7195-200.

22) Parolin C, Dorfman T, Palú G, Göttlinger H, Sodroski J. Analysis in human immunodeficiency virus type 1 vectors of cis-acting sequences that affect gene transfer into human lymphocytes. J Virol. 1994 Jun;68(6):3888-95.

23) Palù G. Combined strategies for gene therapy of AIDS. Gene Ther. 1997 Mar;4(3):179-80.

24) Pizzato M, Franchin E, Calvi P, Boschetto R, Colombo M, Ferrini S, Palù G. Production and characterization of a bicistronic Moloney-based retroviral vector expressing human interleukin 2 and herpes simplex virus thymidine kinase for gene therapy of cancer. Gene Ther. 1998;5(7):1003-7.

25) Palù G, Cavaggioni A, Calvi P, Franchin E, Pizzato M, Boschetto R, Parolin C, Chilosi M, Ferrini S, Zanusso A, Colombo F. Gene therapy of glioblastoma multiforme via combined expression of suicide and cytokine genes: a pilot study in humans. Gene Ther. 1999;6(3):330-7.

26) Giaretta I, Madeo D, Bonaguro R, Cappellari A, Rodeghiero F, Giorgio P. A comparative evaluation of gene transfer into blood cells using the same retroviral backbone for independent expression of the EGFP and deltaLNGFR marker genes. Haematologica. 2000;85(7):680-9.

27) Palù G, Bonaguro R, Gnatta E, Franchin E, Barzon L. Gene therapy of brain and endocrine tumors. Croat Med J. 2001;42(4):473-7.

28) Barzon L, Bonaguro R, Castagliuolo I, Chilosi M, Gnatta E, Parolin C, Boscaro M, Palù G. Transcriptionally targeted retroviral vector for combined suicide and immunomodulating gene therapy of thyroid cancer. J Clin Endocrinol Metab. 2002;87(11):5304-11.

29) Barzon L, Bonaguro R, Castagliuolo I, Chilosi M, Franchin E, Del Vecchio C, Giaretta I, Boscaro M, Palù G. Gene therapy of thyroid cancer via retrovirally-driven combined expression of human interleukin-2 and herpes simplex virus thymidine kinase. Eur J Endocrinol. 2003;148(1):73-80.

30) Barzon L, Stefani AL, Pacenti M, Palù G. Versatility of gene therapy vectors through viruses. Expert Opin Biol Ther. 2005;5(5):639-62.

31) Di Nunzio F, Maruggi G, Ferrari S, Di Iorio E, Poletti V, Garcia M, Del Rio M, De Luca M, Larcher F, Pellegrini G, Mavilio F. Correction of Laminin-5 Deficiency in Human Epidermal Stem Cells by Transcriptionally Targeted Lentiviral Vectors. Mol Ther. 2008 Sep 23.

32) Builles N, Bechetoille N, Justin V, André V, Barbaro V, Di Iorio E, Auxenfans C, Hulmes DJ, Damour O. Development of a hemicornea from human primary cell cultures for pharmacotoxicology testing. Cell Biol Toxicol. 2007;23(4):279-92.

33) Fire, A. RNA triggered gene silencing. Tig. 1999;15:358-363.

34) Fire, A.; Xu, S.; Montgomery, M.K.; Kostas, S.A.; Driver, S.E. And Mello, C.C. Potent and specific genetic interference by double stranded RNA in Caenorhabditis elegans, Nature. 1998;391(6669):806-811.

35) Caplen NJ, Taylor JP, Statham VS, Tanaka F, Fire A, Morgan RA. Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum Mol Genet. 2002;11(2):175-84

36) Caplen NJ. A new approach to the inhibition of gene expression. Trends Biotechnol. 2002;20(2):49-51.

35) Gonzalez-Alegre P, Miller VM, Davidson BL, Paulson HL. Toward therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA. Ann Neurol. 2003;53(6):781-7.

36) Abdelgany A, Wood M, Beeson D. Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. Hum Mol Genet. 2003;12(20):2637-44.

37) Kawasaki H, Wadhwa R, Taira K. World of small RNAs: from ribozymes to siRNA and miRNA. Differentiation. 2004 Mar;72(2-3):58-64.

38) Robb GB, Brown KM, Khurana J, Rana TM. Specific and potent RNAi in the nucleus of human cells. Nat Struct Mol Biol. 2005;12(2):133-7.

39) Lee, H., and D. Kimelman. A dominant-negative form of p63 is required for epidermal proliferation in zebrafish. Dev Cell. 2002. 2:607-16.

40) Bakkers, J., M. Hild, C. Kramer, M. Furutani-Seiki, and M. Hammerschmidt. Zebrafish DeltaNp63 is a direct target of Bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm. Dev Cell. 2002.2:617-27.

41) Hibi K, Trink B, Patturajan M, Westra WH, Caballero OL, Hill DE, RatovitskiEA, Jen J, Sidransky D. AIS is an oncogene amplified in squamous cell carcinoma. Proc Natl Acad Sci U S A. 2000;97(10):5462-7.

42) Senoo M, Pinto F, Crum CP, McKeon F. p63 Is essential for the proliferative potential of stem cells in stratified epithelia. Cell. 2007;129(3):523-36.

43) Nylander K, Vojtesek B, Nenutil R, Lindgren B, Roos G, Zhanxiang W, Sjöström B, Dahlqvist A, Coates PJ. Differential expression of p63 isoforms in normal tissues and neoplastic cells. J Pathol. 2002;198(4):417-27.

48) Epstein SP, Wolosin JM, Asbell PA.
P63 expression levels in side population and low light scattering ocular surface epithelial cells. Trans Am Ophthalmol Soc. 2005;103:187-99

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