• 13 Citations
  • 1 h-Index
20172019
If you made any changes in Pure these will be visible here soon.

Research Output 2017 2019

  • 13 Citations
  • 1 h-Index
  • 4 Article
Filter
Article
2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Premature Aging
Cell Aging
Histones
Chromatin
DNA Packaging
1 Citation (Scopus)

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

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. & 30 others, Conti, F., Merli, P., Pastore, A., Levi Mortera, S., 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., Rosti, V., Bracaglia, C., Palma, P., Finocchi, A., Locatelli, F., Cancrini, C., Aiuti, A., De Benedetti, F. & Tartaglia, M., Dec 2 2019, In : The Journal of experimental medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

Open Access
2018

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins
2017
12 Citations (Scopus)

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Pannone, L., Bocchinfuso, G., Flex, E., Rossi, C., Baldassarre, G., Lissewski, C., Pantaleoni, F., Consoli, F., Lepri, F., Magliozzi, M., Anselmi, M., Delle Vigne, S., Sorge, G., Karaer, K., Cuturilo, G., Sartorio, A., Tinschert, S., Accadia, M., Digilio, M. C., Zampino, G. & 9 others, De Luca, A., Cavé, H., Zenker, M., Gelb, B. D., Dallapiccola, B., Stella, L., Ferrero, G. B., Martinelli, S. & Tartaglia, M., Apr 2017, In : Human Mutation. 38, 4, p. 451-459 9 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Codon
Mutation
SH2 Domain-Containing Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases