Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives

por Vetrini, Francesco, Ng, Philip
Publicado em 2010

Helper-Dependent Adenoviral Vectors

por Rosewell, Amanda, Vetrini, Francesco, Ng, Philip
Publicado em 2011

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

por Vetrini, Francesco, Auricchio, Alberto, Du, Jinyan, Angeletti, Barbara, Fisher, David E., Ballabio, Andrea, Marigo, Valeria
Publicado em 2004

Vasoactive Intestinal Peptide Increases Hepatic Transduction and Reduces Innate Immune Response Following Administration of Helper-dependent Ad

por Vetrini, Francesco, Brunetti-Pierri, Nicola, Palmer, Donna J, Bertin, Terry, Grove, Nathan C, Finegold, Milton J, Ng, Philip
Publicado em 2010

SR-A and SREC-I Are Kupffer and Endothelial Cell Receptors for Helper-dependent Adenoviral Vectors

por Piccolo, Pasquale, Vetrini, Francesco, Mithbaokar, Pratibha, Grove, Nathan C, Bertin, Terry, Palmer, Donna, Ng, Philip, Brunetti-Pierri, Nicola
Publicado em 2013

Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer

por Khare, Reeti, May, Shannon M, Vetrini, Francesco, Weaver, Eric A, Palmer, Donna, Rosewell, Amanda, Grove, Nathan, Ng, Philip, Barry, Michael A
Publicado em 2011

Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells

por Prill, Jan-Michael, Espenlaub, Sigrid, Samen, Ulrike, Engler, Tatjana, Schmidt, Erika, Vetrini, Francesco, Rosewell, Amanda, Grove, Nathan, Palmer, Donna, Ng, Philip, Kochanek, Stefan, Kreppel, Florian
Publicado em 2011

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

por Settembre, Carmine, Zoncu, Roberto, Medina, Diego L, Vetrini, Francesco, Erdin, Serkan, Erdin, SerpilUckac, Huynh, Tuong, Ferron, Mathieu, Karsenty, Gerard, Vellard, Michel C, Facchinetti, Valeria, Sabatini, David M, Ballabio, Andrea
Publicado em 2012

TFEB Links Autophagy to Lysosomal Biogenesis

por Settembre, Carmine, Di Malta, Chiara, Polito, Vinicia Assunta, Arencibia, Moises Garcia, Vetrini, Francesco, Erdin, Serkan, Erdin, Serpil Uckac, Huynh, Tuong, Medina, Diego, Colella, Pasqualina, Sardiello, Marco, Rubinsztein, David C., Ballabio, Andrea
Publicado em 2011

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

por Pastore, Nunzia, Blomenkamp, Keith, Annunziata, Fabio, Piccolo, Pasquale, Mithbaokar, Pratibha, Maria Sepe, Rosa, Vetrini, Francesco, Palmer, Donna, Ng, Philip, Polishchuk, Elena, Iacobacci, Simona, Polishchuk, Roman, Teckman, Jeffrey, Ballabio, Andrea, Brunetti-Pierri, Nicola
Publicado em 2013

Two De Novo Novel Mutations in One SHANK3 Allele in a Patient with Autism and Moderate Intellectual Disability

por Zhu, Wenmiao, Li, Jianli, Chen, Stella, Zhang, Jinglan, Vetrini, Francesco, Braxton, Alicia, Eng, Christine M, Yang, Yaping, Xia, Fan, Keller, Kory L., Okinaka-Hu, Leila, Lee, Chung, Holder, J. Lloyd, Bi, Weimin
Publicado no Am J Med Genet A (2018)

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

por Shibao, Cyndya A., Joos, Karen, Phillips, John A., Cogan, Joy, Newman, John H., Hamid, Rizwan, Meiler, Jens, Capra, John, Sheehan, Jonathan, Vetrini, Francesco, Yang, Yaping, Black, Bonnie, Diedrich, André, Roberston, David, Biaggioni, Italo
Publicado no Neurology (2021)

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

por Settembre, Carmine, De Cegli, Rossella, Mansueto, Gelsomina, Saha, Pradip K., Vetrini, Francesco, Visvikis, Orane, Huynh, Tuong, Carissimo, Annamaria, Palmer, Donna, Klisch, Tiemo Jürgen, Wollenberg, Amanda C., Di Bernardo, Diego, Chan, Lawrence, Irazoqui, Javier E., Ballabio, Andrea
Publicado em 2013

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

por Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Publicado no Genome Med (2018)

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

por Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghani, Asha, Chandarana, Jignesh, Ding, Yan, Holtzman, Judy, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Hanchard, Neil A., Harel, Tamar, Rosenfeld, Jill A., Belmont, John W., Lupski, James R., Yang, Yaping
Publicado no Am J Hum Genet (2016)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

por Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Publicado no Hum Mutat (2018)

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

por Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin
Publicado no Genome Med (2019)

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

por Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel
Publicado no Hum Genet (2017)

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

por Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping
Publicado no Am J Hum Genet (2017)

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

por Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Publicado no Ann Clin Transl Neurol (2018)