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31 results on '"Tammaro, Roberta"'

1. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

Author

Hannes, Laurens, Atzori, Marta, Goldenberg, Alice, Argente, Jesús, Attie-Bitach, Tania, Amiel, Jeanne, Attanasio, Catia, Braslavsky, Débora G., Bruel, Ange-Line, Castanet, Mireille, Dubourg, Christèle, Jacobs, An, Lyonnet, Stanislas, Martinez-Mayer, Julian, Pérez Millán, María Inés, Pezzella, Nunziana, Pelgrims, Elise, Aerden, Mio, Bauters, Marijke, Rochtus, Anne, Scaglia, Paula, Swillen, Ann, Sifrim, Alejandro, Tammaro, Roberta, Mau-Them, Frederic Tran, Odent, Sylvie, Thauvin-Robinet, Christel, Franco, Brunella, and Breckpot, Jeroen

Published
2024
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2. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, and Franco, Brunella

Published
2023
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3. Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma

Author

Carotenuto, Pietro, Romano, Alessia, Barbato, Anna, Quadrano, Paola, Brillante, Simona, Volpe, Mariagrazia, Ferrante, Luigi, Tammaro, Roberta, Morleo, Manuela, De Cegli, Rossella, Iuliano, Antonella, Testa, Marialuisa, Andreone, Fabrizio, Ciliberto, Gennaro, Clery, Eduardo, Troncone, Giancarlo, Palma, Giuseppe, Arra, Claudio, Barbieri, Antonio, Capone, Mariaelena, Madonna, Gabriele, Ascierto, Paolo A., Lanfrancone, Luisa, Indrieri, Alessia, and Franco, Brunella

Published
2022
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5. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

Author

Hannes, Laurens, primary, Atzori, Marta, additional, Goldenberg, Alice, additional, Argente, Jesús, additional, Attie-Bitach, Tania, additional, Amiel, Jeanne, additional, Attanasio, Catia, additional, Braslavsky, Débora G., additional, Bruel, Ange-Line, additional, Castanet, Mireille, additional, Dubourg, Christèle, additional, Jacobs, An, additional, Lyonnet, Stanislas, additional, Martinez-Mayer, Julian, additional, Pérez Millán, María Inés, additional, Pezzella, Nunziana, additional, Pelgrims, Elise, additional, Aerden, Mio, additional, Bauters, Marijke, additional, Rochtus, Anne, additional, Scaglia, Paula, additional, Swillen, Ann, additional, Sifrim, Alejandro, additional, Tammaro, Roberta, additional, Mau-Them, Frederic Tran, additional, Odent, Sylvie, additional, Thauvin-Robinet, Christel, additional, Franco, Brunella, additional, and Breckpot, Jeroen, additional

Published
2023
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6. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Morleo, Manuela, primary, Venditti, Rossella, additional, Theodorou, Evangelos, additional, Briere, Lauren C., additional, Rosello, Marion, additional, Tirozzi, Alfonsina, additional, Tammaro, Roberta, additional, Al-Badri, Nour, additional, High, Frances A., additional, Shi, Jiahai, additional, Putti, Elena, additional, Ferrante, Luigi, additional, Cetrangolo, Viviana, additional, Torella, Annalaura, additional, Walker, Melissa A., additional, Tenconi, Romano, additional, Iascone, Maria, additional, Mei, Davide, additional, Guerrini, Renzo, additional, van der Smagt, Jasper, additional, Kroes, Hester Y., additional, van Gassen, Koen L.I., additional, Bilal, Muhammad, additional, Umair, Muhammad, additional, Pingault, Veronica, additional, Attie-Bitach, Tania, additional, Amiel, Jeannine, additional, Ejaz, Resham, additional, Rodan, Lance, additional, Zollino, Marcella, additional, Agrawal, Pankaj B., additional, Del Bene, Filippo, additional, Nigro, Vincenzo, additional, Sweetser, David A., additional, Franco, Brunella, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Grajewski, Alana, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Kozuira, Mary, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John, additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips III, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Scott, C. Ron, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, Zuchner, Stephan, additional, Morleo, Manuela, additional, Spampanato, Carmine, additional, Pinelli, Michele, additional, Banfi, Sandro, additional, Varavallo, Alessandra, additional, Selicorni, Angelo, additional, Mariani, Milena, additional, Massimello, Marta, additional, Daolio, Cecilia, additional, Capra, Valeria, additional, Accogli, Andrea, additional, Scala, Marcello, additional, Leuzzi, Vincenzo, additional, Nardecchia, Francesca, additional, Galosi, Serena, additional, Mastrangelo, Mario, additional, Milani, Donatella, additional, Vitiello, Giuseppina, additional, Piluso, Giulio, additional, Romano, Corrado, additional, Failla, Pinella, additional, Greco, Donatella, additional, Pantaleoni, Chiara, additional, Ciaccio, Claudia, additional, D’Arrigo, Stefano, additional, Brunetti Pierri, Nicola, additional, Parenti, Giancarlo, additional, Coppola, Antonietta, additional, Mattina, Teresa, additional, Amenta, Simona, additional, Tummolo, Albina, additional, Santoro, Claudia, additional, Grandone, Anna, additional, De Brasi, Daniele, additional, Varone, Antonio, additional, Garavelli, Livia, additional, Marini, Carla, additional, Bigoni, Stefania, additional, Piscopo, Carmelo, additional, Trabacca, Antonio, additional, De Rinaldis, Marta, additional, and Peron, Angela, additional

Published
2023
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7. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Morleo, Manuela, Venditti, Rossella, Theodorou, Evangelos, Briere, Lauren C, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A, Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Torella, Annalaura, Walker, Melissa A, Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y, van Gassen, Koen L I, Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Zollino, Marcella, Agrawal, Pankaj B, Del Bene, Filippo, Nigro, Vincenzo, Sweetser, David A, Franco, Brunella, Morleo, Manuela, Venditti, Rossella, Theodorou, Evangelo, Briere, Lauren C, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A, Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Torella, Annalaura, Walker, Melissa A, Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y, van Gassen, Koen L I, Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Zollino, Marcella, Agrawal, Pankaj B, Del Bene, Filippo, Nigro, Vincenzo, Sweetser, David A, and Franco, Brunella

Subjects
PIP5K1C, developmental delay, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), de novo gain-of-function variant, zebrafish, endosome, phosphoinositide
Abstract

Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2. Here, we describe a neurodevelopmental disorder associated with an increase in the production of PI(4,5)P2 and with PI-signaling dysfunction. We identified three de novo heterozygous missense variants in PIP5K1C, which encodes an isoform of the phosphatidylinositol 4-phosphate 5-kinase (PIP5KIγ), in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. We provide evidence that the PIP5K1C variants result in an increase of the endosomal PI(4,5)P2 pool, giving rise to ectopic recruitment of filamentous actin at early endosomes (EEs) that in turn causes dysfunction in EE trafficking. In addition, we generated an invivo zebrafish model that recapitulates the disorder we describe with developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities, further demonstrating the pathogenic effect of the PIP5K1C variants.

Published
2023

8. miR‐181a/b downregulation exerts a protective action on mitochondrial disease models

Author

Indrieri, Alessia, Carrella, Sabrina, Romano, Alessia, Spaziano, Alessandra, Marrocco, Elena, Fernandez‐Vizarra, Erika, Barbato, Sara, Pizzo, Mariateresa, Ezhova, Yulia, Golia, Francesca M, Ciampi, Ludovica, Tammaro, Roberta, Henao‐Mejia, Jorge, Williams, Adam, Flavell, Richard A, De Leonibus, Elvira, Zeviani, Massimo, Surace, Enrico M, Banfi, Sandro, and Franco, Brunella

Published
2019
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10. Biallelic variants inCENPFcausing a phenotype distinct from Strømme syndrome

Author

Cappuccio, Gerarda, primary, Brillante, Simona, additional, Tammaro, Roberta, additional, Pinelli, Michele, additional, De Bernardi, Margherita Lucia, additional, Gensini, Maria Grazia, additional, Bijlsma, Emilia K., additional, Koopmann, Tamara T., additional, Hoffer, Mariette J. V., additional, McDonald, Kimberly, additional, Hendon, Laura G., additional, Douzgou, Sofia, additional, Deshpande, Charulata, additional, D'Arrigo, Stefano, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Franco, Brunella, additional, and Brunetti‐Pierri, Nicola, additional

Published
2022
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13. Drug Repurposing to Target the Apoptosome in MAPKi-Resistant Melanoma

Author

Carotenuto, Pietro, primary, Romano, Alessia, additional, Barbato, Anna, additional, Quadrano, Paola, additional, Brillante, Simona, additional, Volpe, Mariagrazia, additional, Ferrante, Luigi, additional, Tammaro, Roberta, additional, Morleo, Manuela, additional, De Cegli, Rossella, additional, Iuliano, Antonella, additional, Ciliberto, Gennaro, additional, Clery, Eduardo, additional, Troncone, Giancarlo, additional, Palma, Giuseppe, additional, Arra, Claudio, additional, Barbieri, Antonio, additional, Capone, Marieelena, additional, Madonna, Gabriele, additional, Ascierto, Paolo A., additional, Lanfrancone, Luisa, additional, Indrieri, Alessia, additional, and Franco, Brunella, additional

Published
2021
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14. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

Author

Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, and Brunetti‐Pierri, Nicola

Published
2022
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16. OC.9- MiR-181a and mir-181b downregulation protects from mitochondria-associated neurodegeneration by enhancing mitochondrial biogenesis and mitophagy

Author

Indrieri, Alessia, Carrella, Sabrina, Romano, Alessia, Spaziano, Alessandra, Golia, Francesca, Pizzo, Mariateresa, Tammaro, Roberta, Marrocco, Elena, Giordano, Nicola, Carboncino, Anna, Ciampi, Ludovica, Barbato, Sara, De Leonibus, Elvira, Surace, Enrico M., Banfi, Sandro, Franco, Brunella, Annual Meeting Of The Neapolitan Brain Group 8. <2018, and Naples>

Published
2019
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17. Biallelic variants in CENPFcausing a phenotype distinct from Strømme syndrome

Author

Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, and Brunetti‐Pierri, Nicola

Abstract

Biallelic loss‐of‐function (LoF) variants in CENPFgene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPFbiallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from −2.9 SDS to −5.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted‐V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Strømme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case‐series of individuals with biallelic CENPFvariants suggests the spectrum of clinical manifestations of the disorder that may be related to CENPFvariants is broad and can include phenotypes lacking the cardinal features of Strømme syndrome.

Published
2022
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19. The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

Author

Iaconis, Daniela, primary, Monti, Maria, additional, Renda, Mario, additional, van Koppen, Arianne, additional, Tammaro, Roberta, additional, Chiaravalli, Marco, additional, Cozzolino, Flora, additional, Pignata, Paola, additional, Crina, Claudia, additional, Pucci, Piero, additional, Boletta, Alessandra, additional, Belcastro, Vincenzo, additional, Giles, Rachel H., additional, Surace, Enrico Maria, additional, Gallo, Simone, additional, Pende, Mario, additional, and Franco, Brunella, additional

Published
2017
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21. The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

Author

Iaconis, Daniela, Monti, Maria, Renda, Mario, van Koppen, Arianne, Tammaro, Roberta, Chiaravalli, Marco, Cozzolino, Flora, Pignata, Paola, Crina, Claudia, Pucci, Piero, Boletta, Alessandra, Belcastro, Vincenzo, Giles, Rachel H, Maria Surace, Enrico, Gallo, Simone, Pende, Mario, Franco, Brunella, Iaconis, Daniela, Monti, Maria, Renda, Mario, van Koppen, Arianne, Tammaro, Roberta, Chiaravalli, Marco, Cozzolino, Flora, Pignata, Paola, Crina, Claudia, Pucci, Piero, Boletta, Alessandra, Belcastro, Vincenzo, Giles, Rachel H, Maria Surace, Enrico, Gallo, Simone, Pende, Mario, and Franco, Brunella

Published
2017

22. The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

Author

Pathologie Groep Goldschmeding, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Iaconis, Daniela, Monti, Maria, Renda, Mario, van Koppen, Arianne, Tammaro, Roberta, Chiaravalli, Marco, Cozzolino, Flora, Pignata, Paola, Crina, Claudia, Pucci, Piero, Boletta, Alessandra, Belcastro, Vincenzo, Giles, Rachel H, Maria Surace, Enrico, Gallo, Simone, Pende, Mario, Franco, Brunella, Pathologie Groep Goldschmeding, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Iaconis, Daniela, Monti, Maria, Renda, Mario, van Koppen, Arianne, Tammaro, Roberta, Chiaravalli, Marco, Cozzolino, Flora, Pignata, Paola, Crina, Claudia, Pucci, Piero, Boletta, Alessandra, Belcastro, Vincenzo, Giles, Rachel H, Maria Surace, Enrico, Gallo, Simone, Pende, Mario, and Franco, Brunella

Published
2017

23. Differential alternative splicing analysis links variation in ZRSR2to a novel type of oral-facial-digital syndrome

Author

Hannes, Laurens, Atzori, Marta, Goldenberg, Alice, Argente, Jesús, Attie-Bitach, Tania, Amiel, Jeanne, Attanasio, Catia, Braslavsky, Débora G., Bruel, Ange-Line, Castanet, Mireille, Dubourg, Christèle, Jacobs, An, Lyonnet, Stanislas, Martinez-Mayer, Julian, Pérez Millán, María Inés, Pezzella, Nunziana, Pelgrims, Elise, Aerden, Mio, Bauters, Marijke, Rochtus, Anne, Scaglia, Paula, Swillen, Ann, Sifrim, Alejandro, Tammaro, Roberta, Mau-Them, Frederic Tran, Odent, Sylvie, Thauvin-Robinet, Christel, Franco, Brunella, and Breckpot, Jeroen

Abstract

Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental disorders, caused by pathogenic variants in genes involved in primary cilia formation and function. We identified a previously undescribed type of OFD with brain anomalies, ranging from alobar holoprosencephaly to pituitary anomalies, in 6 unrelated families.

Published
2024
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28. Biallelic variants in CENPF causing a phenotype distinct from Stromme syndrome

Author

Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, Emilia K. Bijlsma, Tamara T. Koopmann, Mariette J. V. Hoffer, Kimberly McDonald, Laura G. Hendon, Sofia Douzgou, Charulata Deshpande, Stefano D'Arrigo, Annalaura Torella, Vincenzo Nigro, Brunella Franco, Nicola Brunetti‐Pierri, Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K, Koopmann, Tamara T, Hoffer, Mariette J V, Mcdonald, Kimberly, Hendon, Laura G, Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, and Brunetti-Pierri, Nicola

Subjects
Male, duodenal atresia, Stromme syndrome, Chromosomal Proteins, Non-Histone, Microfilament Proteins, Intestinal Atresia, CENPF, cilia, Eye Abnormalitie, Phenotype, Strømme syndrome, Intellectual Disability, Mutation, Microcephaly, Genetics, Humans, Female, anterior chamber defect, Eye Abnormalities, Genetics (clinical), Human
Abstract

Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Stromme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPF biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from -2.9 SDS to -5.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted-V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Stromme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case-series of individuals with biallelic CENPF variants suggests the spectrum of clinical manifestations of the disorder that may be related to CENPF variants is broad and can include phenotypes lacking the cardinal features of Stromme syndrome.

Published
2022

29. Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma

Author

Pietro Carotenuto, Alessia Romano, Anna Barbato, Paola Quadrano, Simona Brillante, Mariagrazia Volpe, Luigi Ferrante, Roberta Tammaro, Manuela Morleo, Rossella De Cegli, Antonella Iuliano, Marialuisa Testa, Fabrizio Andreone, Gennaro Ciliberto, Eduardo Clery, Giancarlo Troncone, Giuseppe Palma, Claudio Arra, Antonio Barbieri, Mariaelena Capone, Gabriele Madonna, Paolo A. Ascierto, Luisa Lanfrancone, Alessia Indrieri, Brunella Franco, Carotenuto, Pietro, Romano, Alessia, Barbato, Anna, Quadrano, Paola, Brillante, Simona, Volpe, Mariagrazia, Ferrante, Luigi, Tammaro, Roberta, Morleo, Manuela, De Cegli, Rossella, Iuliano, Antonella, Testa, Marialuisa, Andreone, Fabrizio, Ciliberto, Gennaro, Clery, Eduardo, Troncone, Giancarlo, Palma, Giuseppe, Arra, Claudio, Barbieri, Antonio, Capone, Mariaelena, Madonna, Gabriele, Ascierto, Paolo A, Lanfrancone, Luisa, Indrieri, Alessia, and Franco, Brunella

Subjects
Salvage Therapy, Microphthalmia-Associated Transcription Factor, Apoptosi, Protein Kinase Inhibitor, Apoptosis, melanoma drug resistance, MAPK inhibitors, drug repositioning, MITF, APAF-1, epigenetic drugs, apoptosome, drug repositioning, apoptosome-independent cell death, General Biochemistry, Genetics and Molecular Biology, Gene Expression Regulation, Neoplastic, Cell Line, Tumor, Humans, Protein Kinase Inhibitors, CP: Cancer, Melanoma, Human
Abstract

Melanoma is a deadly form of cancer characterized by remarkable therapy resistance. Analyzing the transcriptome of MAPK inhibitor sensitive- and resistant-melanoma, we discovered that APAF-1 is negatively regulated by MITF in resistant tumors. This study identifies the MITF/APAF-1 axis as a molecular driver of MAPK inhibitor resistance. A drug-repositioning screen identified quinacrine and methylbenzethonium as potent activators of apoptosis in a context that mimics drug resistance mediated by APAF-1 inactivation. The compounds showed anti-tumor activity in invitro and invivo models, linked to suppression of MITF function. Both drugs profoundly sensitize melanoma cells to MAPK inhibitors, regulating key signaling networks in melanoma, including the MITF/APAF-1 axis. Significant activity of the two compounds in inhibiting specific epigenetic modulators of MITF/APAF-1 expression, such as histone deacetylases, was observed. In summary, we demonstrate that targeting the MITF/APAF-1 axis may overcome resistance and could be exploited as a potential therapeutic approach to treat resistant melanoma.

Published
2022

30. Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

Author

Alessia Indrieri, Silvia Zucchelli, Roberta Tammaro, Stefano Gustincich, Claudia Grimaldi, Brunella Franco, Indrieri, Alessia, Grimaldi, Claudia, Zucchelli, Silvia, Tammaro, Roberta, Gustincich, Stefano, and Franco, Brunella

Subjects
0301 basic medicine, Oryzias, translation, Computational biology, Biology, Gene dosage, Article, 03 medical and health sciences, 0302 clinical medicine, Settore BIO/13 - Biologia Applicata, In vivo, Gene expression, widespread, Animals, Humans, Microphthalmos, Gene, Genetics, Regulation of gene expression, medaka, Biological Products, Multidisciplinary, RNA, Translation (biology), Genetic Diseases, X-Linked, Genetic Therapy, mutations, proteins, translation, proteins, microphthalmia, transcription, widespread, mutations, medaka, cells, Disease Models, Animal, 030104 developmental biology, Treatment Outcome, microphthalmia, Gene Expression Regulation, Skin Abnormalities, cells, RNA, Long Noncoding, transcription, Haploinsufficiency, 030217 neurology & neurosurgery
Abstract

Non-coding RNAs provide additional regulatory layers to gene expression as well as the potential to being exploited as therapeutic tools. Non-coding RNA-based therapeutic approaches have been attempted in dominant diseases, however their use for treatment of genetic diseases caused by insufficient gene dosage is currently more challenging. SINEUPs are long antisense non-coding RNAs that up-regulate translation in mammalian cells in a gene-specific manner, although, so far evidence of SINEUP efficacy has only been demonstrated in in vitro systems. We now show that synthetic SINEUPs effectively and specifically increase protein levels of a gene of interest in vivo. We demonstrated that SINEUPs rescue haploinsufficient gene dosage in a medakafish model of a human disorder leading to amelioration of the disease phenotype. Our results demonstrate that SINEUPs act through mechanisms conserved among vertebrates and that SINEUP technology can be successfully applied in vivo as a new research and therapeutic tool for gene-specific up-regulation of endogenous functional proteins.

Published
2016
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31. The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.

Author

Massa F, Tammaro R, Prado MA, Cesana M, Lee BH, Finley D, Franco B, and Morleo M

Subjects
Animals, Biomarkers, Cell Line, Deubiquitinating Enzymes genetics, Deubiquitinating Enzymes metabolism, Fibroblasts, Fluorescent Antibody Technique, Gene Expression Regulation, Mice, Mutation, Protein Transport, TRPP Cation Channels genetics, TRPP Cation Channels metabolism, Cilia metabolism, Hedgehog Proteins metabolism, Organogenesis genetics, Signal Transduction, Ubiquitin Thiolesterase genetics, Ubiquitin Thiolesterase metabolism
Abstract

Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis and when dysfunctional result in pleiotropic human genetic disorders called ciliopathies, characterized by overlapping phenotypes, such as renal and hepatic cysts, skeletal defects, retinal degeneration and central nervous system malformations. Primary cilia act as communication hubs to transfer extracellular signals into intracellular responses and are essential for Hedgehog (Hh) signal transduction in mammals. Despite the renewed interest in this ancient organelle of growing biomedical importance, the molecular mechanisms that trigger cilia formation, extension and ciliary signal transduction are still not fully understood. Here we provide, for the first time, evidence that the deubiquitinase ubiquitin-specific protease-14 (Usp14), a major regulator of the ubiquitin proteasome system (UPS), controls ciliogenesis, cilia elongation and Hh signal transduction. Moreover, we show that pharmacological inhibition of Usp14 positively affects Hh signal transduction in a model of autosomal dominant polycystic kidney disease. These findings provide new insight into the spectrum of action of UPS in cilia biology and may provide novel opportunities for therapeutic intervention in human conditions associated with ciliary dysfunction., (© The Author(s) 2018. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Published
2019
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