Xeroderma pigmentosum

Por Lehmann, Alan R, McGibbon, David, Stefanini, Miria
Publicado em 2011

Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH

Por Santagati, Fabio, Botta, Elena, Stefanini, Miria, Pedrini, Antonia M.
Publicado em 2001

Rac3-induced Neuritogenesis Requires Binding to Neurabin I

Por Orioli, Donata, Colaluca, Ivan N., Stefanini, Miria, Riva, Silvano, Dotti, Carlos G., Peverali, Fiorenzo A.
Publicado em 2006

DNA nucleotide excision repair-dependent signaling to checkpoint activation

Por Marini, Federica, Nardo, Tiziana, Giannattasio, Michele, Minuzzo, Mario, Stefanini, Miria, Plevani, Paolo, Falconi, Marco Muzi
Publicado em 2006

In Vivo Destabilization and Functional Defects of the Xeroderma Pigmentosum C Protein Caused by a Pathogenic Missense Mutation

Por Yasuda, Gentaro, Nishi, Ryotaro, Watanabe, Eriko, Mori, Toshio, Iwai, Shigenori, Orioli, Donata, Stefanini, Miria, Hanaoka, Fumio, Sugasawa, Kaoru
Publicado em 2007

Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant

Por Queimado, Lurdes, Rao, Malini, Schultz, Roger A., Koonin, Eugene V., Aravind, L., Nardo, Tiziana, Stefanini, Miria, Friedberg, Errol C.
Publicado em 2001

Relationship of the Xeroderma Pigmentosum Group E DNA Repair Defect to the Chromatin and DNA Binding Proteins UV-DDB and Replication Protein A

Por Rapić Otrin, Vesna, Kuraoka, Isao, Nardo, Tiziana, McLenigan, Mary, Eker, A. P. M., Stefanini, Miria, Levine, Arthur S., Wood, Richard D.
Publicado em 1998

Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack

Por Oksenych, Valentyn, Zhovmer, Alexander, Ziani, Salim, Mari, Pierre-Olivier, Eberova, Jitka, Nardo, Tiziana, Stefanini, Miria, Giglia-Mari, Giuseppina, Egly, Jean-Marc, Coin, Frédéric
Publicado em 2013

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Por Nardo, Tiziana, Oneda, Roberta, Spivak, Graciela, Vaz, Bruno, Mortier, Laurent, Thomas, Pierre, Orioli, Donata, Laugel, Vincent, Stary, Anne, Hanawalt, Philip C., Sarasin, Alain, Stefanini, Miria
Publicado em 2009

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome

Por Berneburg, Mark, Lowe, Jillian E., Nardo, Tiziana, Araújo, Sofia, Fousteri, Maria I., Green, Michael H.L., Krutmann, Jean, Wood, Richard D., Stefanini, Miria, Lehmann, Alan R.
Publicado em 2000

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

Por Arseni, Lavinia, Lanzafame, Manuela, Compe, Emmanuel, Fortugno, Paola, Afonso-Barroso, António, Peverali, Fiorenzo A., Lehmann, Alan R., Zambruno, Giovanna, Egly, Jean-Marc, Stefanini, Miria, Orioli, Donata
Publicado no Proc Natl Acad Sci U S A (2015)

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene

Por Taylor, Elaine M., Broughton, Bernard C., Botta, Elena, Stefanini, Miria, Sarasin, Alain, Jaspers, Nicolaas G. J., Fawcett, Heather, Harcourt, Susan A., Arlett, Colin F., Lehmann, Alan R.
Publicado em 1997

Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Por Theron, Therina, Fousteri, Maria I., Volker, Marcel, Harries, Lorna W., Botta, Elena, Stefanini, Miria, Fujimoto, Mitsuo, Andressoo, Jaan-Olle, Mitchell, Jay, Jaspers, Nicolaas G. J., McDaniel, Lisa D., Mullenders, Leon H., Lehmann, Alan R.
Publicado em 2005

New functions of XPC in the protection of human skin cells from oxidative damage

Por D'Errico, Mariarosaria, Parlanti, Eleonora, Teson, Massimo, de Jesus, Bruno M Bernardes, Degan, Paolo, Calcagnile, Angelo, Jaruga, Pawel, Bjørås, Magnar, Crescenzi, Marco, Pedrini, Antonia M, Egly, Jean-Marc, Zambruno, Giovanna, Stefanini, Miria, Dizdaroglu, Miral, Dogliotti, Eugenia
Publicado em 2006

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

Por Kuschal, Christiane, Botta, Elena, Orioli, Donata, Digiovanna, John J., Seneca, Sara, Keymolen, Kathelijn, Tamura, Deborah, Heller, Elizabeth, Khan, Sikandar G., Caligiuri, Giuseppina, Lanzafame, Manuela, Nardo, Tiziana, Ricotti, Roberta, Peverali, Fiorenzo A., Stephens, Robert, Zhao, Yongmei, Lehmann, Alan R., Baranello, Laura, Levens, David, Kraemer, Kenneth H., Stefanini, Miria
Publicado no Am J Hum Genet (2016)

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Por Kashiyama, Kazuya, Nakazawa, Yuka, Pilz, Daniela T., Guo, Chaowan, Shimada, Mayuko, Sasaki, Kensaku, Fawcett, Heather, Wing, Jonathan F., Lewin, Susan O., Carr, Lucinda, Li, Tao-Sheng, Yoshiura, Koh-ichiro, Utani, Atsushi, Hirano, Akiyoshi, Yamashita, Shunichi, Greenblatt, Danielle, Nardo, Tiziana, Stefanini, Miria, McGibbon, David, Sarkany, Robert, Fassihi, Hiva, Takahashi, Yoshito, Nagayama, Yuji, Mitsutake, Norisato, Lehmann, Alan R., Ogi, Tomoo
Publicado em 2013

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Por Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, Morley, Ana M. S., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.
Publicado no Proc Natl Acad Sci U S A (2016)