Search

Your search keyword '"Carisey, A. F."' showing total 6 results
Start Over Author "Carisey, A. F." Publisher rockefeller university press
6 results on '"Carisey, A. F."'

1. Sonic Hedgehog activates prostaglandin signaling to stabilize primary cilium length

Author

Ansari, Shariq S., primary, Dillard, Miriam E., additional, Zhang, Yan, additional, Austria, Mary Ashley, additional, Boatwright, Naoko, additional, Shelton, Elaine L., additional, Stewart, Daniel P., additional, Johnson, Amanda, additional, Wang, Christina E., additional, Young, Brandon M., additional, Rankovic, Zoran, additional, Hansen, Baranda S., additional, Pruett-Miller, Shondra M., additional, Carisey, Alexandre F., additional, Schuetz, John D., additional, Robinson, Camenzind G., additional, and Ogden, Stacey K., additional

Published
2024
Full Text
View/download PDF

2. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Author

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., Locatelli F. (ORCID:0000-0002-7976-3654), Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.

Published
2019

3. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Author

Lam, Michael T., primary, Coppola, Simona, additional, Krumbach, Oliver H.F., additional, Prencipe, Giusi, additional, Insalaco, Antonella, additional, Cifaldi, Cristina, additional, Brigida, Immacolata, additional, Zara, Erika, additional, Scala, Serena, additional, Di Cesare, Silvia, additional, Martinelli, Simone, additional, Di Rocco, Martina, additional, Pascarella, Antonia, additional, Niceta, Marcello, additional, Pantaleoni, Francesca, additional, Ciolfi, Andrea, additional, Netter, Petra, additional, Carisey, Alexandre F., additional, Diehl, Michael, additional, Akbarzadeh, Mohammad, additional, Conti, Francesca, additional, Merli, Pietro, additional, Pastore, Anna, additional, Levi Mortera, Stefano, additional, Camerini, Serena, additional, Farina, Luciapia, additional, Buchholzer, Marcel, additional, Pannone, Luca, additional, Cao, Tram N., additional, Coban-Akdemir, Zeynep H., additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Gibbs, Richard A., additional, Basso-Ricci, Luca, additional, Chiriaco, Maria, additional, Dvorsky, Radovan, additional, Putignani, Lorenza, additional, Carsetti, Rita, additional, Janning, Petra, additional, Stray-Pedersen, Asbjorg, additional, Erichsen, Hans Christian, additional, Horne, AnnaCarin, additional, Bryceson, Yenan T., additional, Torralba-Raga, Lamberto, additional, Ramme, Kim, additional, Rosti, Vittorio, additional, Bracaglia, Claudia, additional, Messia, Virginia, additional, Palma, Paolo, additional, Finocchi, Andrea, additional, Locatelli, Franco, additional, Chinn, Ivan K., additional, Lupski, James R., additional, Mace, Emily M., additional, Cancrini, Caterina, additional, Aiuti, Alessandro, additional, Ahmadian, Mohammad R., additional, Orange, Jordan S., additional, De Benedetti, Fabrizio, additional, and Tartaglia, Marco, additional

Published
2019
Full Text
View/download PDF

6. NK cells converge lytic granules to promote cytotoxicity and prevent bystander killing.

Author

Hsiang-Ting Hsu, Mace, Emily M., Carisey, Alexandre F., Viswanath, Dixita I., Christakou, Athanasia E., Wiklund, Martin, Önfelt, Björn, and Orange, Jordan S.

Subjects
*CELL-mediated cytotoxicity, *KILLER cells, *LYSOSOMES
Abstract

Natural killer (NK) cell activation triggers sequential cellular events leading to destruction of diseased cells. We previously identified lytic granule convergence, a dynein- and integrin signal-dependent movement of lysosome-related organelles to the microtubule-organizing center, as an early step in the cell biological process underlying NK cell cytotoxicity. Why lytic granules converge during NK cell cytotoxicity, however, remains unclear. We experimentally controlled the availability of human ligands to regulate NK cell signaling and promote granule convergence with either directed or nondirected degranulation. By the use of acoustic trap microscopy, we generated specific effector-target cell arrangements to define the impact of the two modes of degranulation. NK cells with converged granules had greater targeted and less nonspecific "bystander" killing. Additionally, NK cells in which dynein was inhibited or integrin blocked under physiological conditions demonstrated increased nondirected degranulation and bystander killing. Thus, NK cells converge lytic granules and thereby improve the efficiency of targeted killing and prevent collateral damage to neighboring healthy cells. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results