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

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

ZCCHC8相关端粒生物学疾病的体细胞遗传拯救

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; Ba, Ibrahima; Nouri, Mina; Kermasson, Laëtitia; Chelbi, Malika; Bergot, Emmanuel; Leblanc, Thierry; Borie, Raphael; Philippot, Quentin; Antone, Elise; Prévot, Grégoire; Blanchard, Elodie; Keren, Boris; Lainey, Elodie; Catto, Marilia; Santana, Barbara; Chandrasekharappa, Settara C; Donovan, Frank X; Bazzo Catto, Luiz Fernando; Callebaut, Isabelle; Young, Neal S; Halfon-Domenech, Carine; Calado, Rodrigo T; Bertuch, Alison A; Gutierrez-Rodrigues, Fernanda; Kannengiesser, Caroline; Revy, Patrick

Danazol treatment for telomere biology disorders: long-term results of a phase 1/2 study

达那唑治疗端粒生物学疾病:一项 1/2 期研究的长期结果

Lee, Nicholas C; Gutierrez-Rodrigues, Fernanda; Shalhoub, Ruba; Machado, Tania; Lotter, Jennifer; Alemu, Lemlem; Raffo, Diego Quinones; Paul, Subrata; Kajigaya, Sachiko; Aubert, Geraldine; Wu, Colin O; Young, Neal S; Patel, Bhavisha A; Groarke, Emma M

Clonal Signatures of Telomere Biology Disorders

端粒生物学疾病的克隆特征

Arcuri, Luca; Groarke, Emma M; Savage, Sharon A; Gutierrez-Rodrigues, Fernanda

Clone wars: the expansion menace

克隆战争:扩张的威胁

Groarke, Emma M; Gutierrez-Rodrigues, Fernanda

Clinical and molecular features of immunodeficiency in patients with telomere biology disorders

端粒生物学障碍患者的免疫缺陷的临床和分子特征

Bazzo Catto, Luiz Fernando; Aggarwal, Nidhi; Shalhoub, Ruba; Ma, Xiaoyang; Darden, Ivana; Machado, Tania; Zhang, Yue; Redekar, Neelam R; Thongon, Natthakan; Colla, Simona; Aubert, Geraldine; Dunbar, Cynthia E; Wu, Colin O; Young, Neal S; Patel, Bhavisha A; Gutierrez-Rodrigues, Fernanda; Groarke, Emma M

A coding single nucleotide polymorphism in the interleukin-6 receptor enhances IL-6 signalling in CD4 T cells and predicts treatment response to tocilizumab in giant cell arteritis

白细胞介素-6受体编码单核苷酸多态性增强CD4 T细胞中IL-6信号传导,并可预测巨细胞动脉炎患者对托珠单抗的治疗反应。

Zorc, Robert; Redmond, Christopher; Sylvester, McKella; Maclean, Mary; Yamamoto de Almeida, Luciana; Quinn, Kaitlin A; Tomelleri, Alessandro; Campochiaro, Corrado; Dagna, Lorenzo; Gutierrez-Rodrigues, Fernanda; Wells, Kristina V; Rankin, Cameron; Hait, Sabrina Helmold; Palmer, Chloe; Corty, Robert; Bick, Alexander; Lambert, Kathi; Buckner, Jane H; O'Shea, John J; Park, Jin Kyun; Gadina, Massimo; Grayson, Peter C

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome

深入的转录组分析揭示了VEXAS综合征患者免疫反应功能障碍的全貌。

Hiroki Mizumaki # ,Shouguo Gao # ,Zhijie Wu ,Fernanda Gutierrez-Rodrigues ,Massimiliano Bissa ,Xingmin Feng ,Emma M Groarke ,Haoran Li ,Lemlem Alemu ,Diego Quinones Raffo ,Ivana Darden ,Sachiko Kajigaya ,Peter C Grayson ,Genoveffa Franchini ,Neal S Young ,Bhavisha A Patel

Complex somatic mutation landscape in myeloid cells in a patient with VEXAS syndrome: First Brazilian case report

VEXAS综合征患者髓系细胞中复杂的体细胞突变图谱:首例巴西病例报告

de Oliveira, Fabíola Reis; Lima, Adriane Souza; Faria, Carlos Roberto Jr; Quaresma, Thaise Oliveira; Mourani, Marcio M; Wichert-Ana, Lauro; Louzada, Paulo Jr; Gutierrez-Rodrigues, Fernanda; Young, Neal S; Calado, Rodrigo T

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

克隆图谱和端粒生物学疾病的临床结果:体细胞拯救和癌症突变

Gutierrez-Rodrigues, Fernanda; Groarke, Emma M; Thongon, Natthakan; Rodriguez-Sevilla, Juan Jose; Catto, Luiz Fernando B; Niewisch, Marena R; Shalhoub, Ruba; McReynolds, Lisa J; Clé, Diego V; Patel, Bhavisha A; Ma, Xiaoyang; Hironaka, Dalton; Donaires, Flávia S; Spitofsky, Nina; Santana, Barbara A; Lai, Tsung-Po; Alemu, Lemlem; Kajigaya, Sachiko; Darden, Ivana; Zhou, Weiyin; Browne, Paul V; Paul, Subrata; Lack, Justin; Young, David J; DiNardo, Courtney D; Aviv, Abraham; Ma, Feiyang; De Oliveira, Michel Michels; de Azambuja, Ana Paula; Dunbar, Cynthia E; Olszewska, Malgorzata; Olivier, Emmanuel; Papapetrou, Eirini P; Giri, Neelam; Alter, Blanche P; Bonfim, Carmem; Wu, Colin O; Garcia-Manero, Guillermo; Savage, Sharon A; Young, Neal S; Colla, Simona; Calado, Rodrigo T

Clonal haematopoiesis across the age spectrum of vasculitis patients with Takayasu's arteritis, ANCA-associated vasculitis and giant cell arteritis

克隆性造血在患有大动脉炎、ANCA相关性血管炎和巨细胞动脉炎的血管炎患者年龄段中的分布

Gutierrez-Rodrigues, Fernanda; Wells, Kristina V; Jones, Adrianna I; Hironaka, Dalton; Rankin, Cameron; Gadina, Massimo; Sikora, Keith A; Alemu, Lemlem; Calado, Rodrigo T; Quinn, Kaitlin A; Patel, Bhavisha; Young, Neal S; Grayson, Peter C