Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

Autor: Guy Helman, Parand Zarekiani, Samantha A.M. Tromp, Ashley Andrews, Lorenzo D. Botto, Joshua L. Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith‐Hicks, Giovanna Vaula, Michèl A.A.P Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J. Taft, Cas Simons, Marianna Bugiani, Taco W. Kuijpers, Marjo S. van der Knaap

Publikováno v: Annals of Neurology, 92, 5, pp. 895-901
Annals of Neurology, 92(5), 895-901. John Wiley and Sons Inc.
Annals of Neurology, 92, 895-901
Helman, G, Zarekiani, P, Tromp, S A M, Andrews, A, Botto, L D, Bonkowsky, J L, Chassevent, A, Giorgio, E, Pippucci, T, Wei, S, Smith-Hicks, C, Vaula, G, Willemsen, M A A P, Schimmel, M, Vollert, K, Shimizu, F, Kanda, T, Lynch, M, Roscioli, T, Taft, R J, Simons, C, Bugiani, M, Kuijpers, T W & van der Knaap, M S 2022, ' Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy ', Annals of Neurology, vol. 92, no. 5, pp. 895-901 . https://doi.org/10.1002/ana.26477
Annals of neurology, 92(5), 895-901. John Wiley and Sons Inc.

Item does not contain fulltext NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91eeaa027fc44539ee7a9a7b49de19d
https://repository.ubn.ru.nl/handle/2066/287942