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

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome

皮层神经元死亡的时空梯度导致连接酶4综合征敲入小鼠模型出现小头畸形

Melody P Lun ,Morgan L Shannon ,Sevgi Keles ,Ismail Reisli ,Nicole Luche ,Douglas Ryan ,Kelly Capuder ,Luigi D Notarangelo ,Maria K Lehtinen

Jak3 deficiency blocks innate lymphoid cell development

Jak3 缺乏阻碍先天淋巴细胞发育

M L Robinette, M Cella, J B Telliez, T K Ulland, A D Barrow, K Capuder, S Gilfillan, L-L Lin, L D Notarangelo, M Colonna

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

EXTL3 突变导致骨骼发育不良、免疫缺陷和发育迟缓

Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Pri

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome

N-WASP是Wiskott-Aldrich综合征中B细胞介导的自身免疫所必需的。

Volpi, Stefano; Santori, Elettra; Abernethy, Katrina; Mizui, Masayuki; Dahlberg, Carin I M; Recher, Mike; Capuder, Kelly; Csizmadia, Eva; Ryan, Douglas; Mathew, Divij; Tsokos, George C; Snapper, Scott; Westerberg, Lisa S; Thrasher, Adrian J; Candotti, Fabio; Notarangelo, Luigi D

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

RAG缺陷症中针对自身抗原和细胞因子的广谱抗体

Walter, Jolan E; Rosen, Lindsey B; Csomos, Krisztian; Rosenberg, Jacob M; Mathew, Divij; Keszei, Marton; Ujhazi, Boglarka; Chen, Karin; Lee, Yu Nee; Tirosh, Irit; Dobbs, Kerry; Al-Herz, Waleed; Cowan, Morton J; Puck, Jennifer; Bleesing, Jack J; Grimley, Michael S; Malech, Harry; De Ravin, Suk See; Gennery, Andrew R; Abraham, Roshini S; Joshi, Avni Y; Boyce, Thomas G; Butte, Manish J; Nadeau, Kari C; Balboni, Imelda; Sullivan, Kathleen E; Akhter, Javeed; Adeli, Mehdi; El-Feky, Reem A; El-Ghoneimy, Dalia H; Dbaibo, Ghassan; Wakim, Rima; Azzari, Chiara; Palma, Paolo; Cancrini, Caterina; Capuder, Kelly; Condino-Neto, Antonio; Costa-Carvalho, Beatriz T; Oliveira, Joao Bosco; Roifman, Chaim; Buchbinder, David; Kumanovics, Attila; Franco, Jose Luis; Niehues, Tim; Schuetz, Catharina; Kuijpers, Taco; Yee, Christina; Chou, Janet; Masaad, Michel J; Geha, Raif; Uzel, Gulbu; Gelman, Rebecca; Holland, Steven M; Recher, Mike; Utz, Paul J; Browne, Sarah K; Notarangelo, Luigi D

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes

利用 CRISPR/Cas9 诱导的小鼠合子诱变技术快速构建 RAG1 缺陷型新模型

Ott de Bruin, Lisa; Yang, Wei; Capuder, Kelly; Lee, Yu Nee; Antolini, Maddalena; Meyers, Robin; Gellert, Martin; Musunuru, Kiran; Manis, John; Notarangelo, Luigi

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

早期侵袭性感染患者的遗传性DOCK2缺陷

Dobbs, Kerry; Domínguez Conde, Cecilia; Zhang, Shen-Ying; Parolini, Silvia; Audry, Magali; Chou, Janet; Haapaniemi, Emma; Keles, Sevgi; Bilic, Ivan; Okada, Satoshi; Massaad, Michel J; Rounioja, Samuli; Alwahadneh, Adel M; Serwas, Nina K; Capuder, Kelly; Çiftçi, Ergin; Felgentreff, Kerstin; Ohsumi, Toshiro K; Pedergnana, Vincent; Boisson, Bertrand; Haskoloğlu, Şule; Ensari, Arzu; Schuster, Michael; Moretta, Alessandro; Itan, Yuval; Patrizi, Ornella; Rozenberg, Flore; Lebon, Pierre; Saarela, Janna; Knip, Mikael; Petrovski, Slavé; Goldstein, David B; Parrott, Roberta E; Savas, Berna; Schambach, Axel; Tabellini, Giovanna; Bock, Christoph; Chatila, Talal A; Comeau, Anne Marie; Geha, Raif S; Abel, Laurent; Buckley, Rebecca H; İkincioğulları, Aydan; Al-Herz, Waleed; Helminen, Merja; Doğu, Figen; Casanova, Jean-Laurent; Boztuğ, Kaan; Notarangelo, Luigi D