日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

针对特定先天性免疫缺陷群体,对人类表型本体进行整理和扩展

Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A A; Elfeky, Reem; Trück, Johannes; Rivière, Jacques G; van der Burg, Mirjam; Gattorno, Marco; Seidel, Markus G; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; de Vries, Esther; Robinson, Peter N; van Gijn, Marielle; Boztug, Kaan