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

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells

RAG2功能减退缺陷促进自身反应性B细胞的选择

Thouvenel, Christopher D; Tipton, Christopher M; Yamazaki, Yasuhiro; Zhang, Ting-Ting; Rylaarsdam, Stacey; Hom, Jennifer R; Snead, Catherine; Zhu, Chengsong; Li, Quan-Zhen; Lee, Yu Nee; Kawai, Tomoki; Haque, Neshatul; Zimmermann, Michael T; Ponnan, Sivasankaran Munusamy; Jackson, Shaun W; James, Rich G; Sanz, Ignacio; Notarangelo, Luigi D; Torgerson, Troy R; Ochs, Hans D; Rawlings, David J; Allenspach, Eric J

CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications

通过完整编码序列替换对 RAG2 基因座进行 CRISPR-Cas9 工程改造,以用于治疗应用

Daniel Allen #, Orli Knop #, Bryan Itkowitz #, Nechama Kalter, Michael Rosenberg, Ortal Iancu, Katia Beider, Yu Nee Lee, Arnon Nagler, Raz Somech, Ayal Hendel

Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses

TRG 和 IGH 库分析显示 Wiskott-Aldrich 综合征 (WAS) 患者 γδT 细胞和 B 细胞活化不足

Dahlia Palevski, Amos Simon, Atar Lev, Raz Somech, Yu Nee Lee

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK

LCK 新型无义突变导致的联合免疫缺陷

Baerbel Keller, Shlomit Kfir-Erenfeld, Paul Matusewicz, Frederike Hartl, Atar Lev, Yu Nee Lee, Amos J Simon, Tali Stauber, Orly Elpeleg, Raz Somech #, Polina Stepensky #, Susana Minguet #, Burkhart Schraven #, Klaus Warnatz #

An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia

白细胞介素-7受体α在人类B细胞前体白血病发展中的指导作用

Ifat Geron #, Angela Maria Savino #, Hila Fishman, Noa Tal, John Brown, Virginia A Turati, Chela James, Jolanda Sarno, Michal Hameiri-Grossman, Yu Nee Lee, Avigail Rein, Hillary Maniriho, Yehudit Birger, Anna Zemlyansky, Inna Muler, Kara L Davis, Victoria Marcu-Malina, Nicole Mattson, Oren Parnas, R

Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs

利用CRISPR基因组编辑技术对人类造血干细胞进行多重HDR疾病和SCID矫正建模

Ortal Iancu ,Daniel Allen ,Orli Knop ,Yonathan Zehavi ,Dor Breier ,Adaya Arbiv ,Atar Lev ,Yu Nee Lee ,Katia Beider ,Arnon Nagler ,Raz Somech ,Ayal Hendel

Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

一种与重症联合免疫缺陷、小头畸形以及T细胞和B细胞受体库异常相关的新型NHEJ1致病变异

Frizinsky, Shirly; Rechavi, Erez; Barel, Ortal; Lee, Yu Nee; Simon, Amos J; Lev, Atar; Stauber, Tali; Adam, Etai; Somech, Raz

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

人类遗传性 SLP76 缺乏会导致严重的联合免疫缺陷、中性粒细胞和血小板缺陷

Atar Lev, Yu Nee Lee, Guangping Sun, Enas Hallumi, Amos J Simon, Keren S Zrihen, Shiran Levy, Tal Beit Halevi, Maria Papazian, Neta Shwartz, Ido Somekh, Sarina Levy-Mendelovich, Baruch Wolach, Ronit Gavrieli, Helly Vernitsky, Ortal Barel, Elisheva Javasky, Tali Stauber, Chi A Ma, Yuan Zhang, Ninette

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

CD137 缺陷会导致免疫失调,并易导致淋巴瘤发生。

Somekh, Ido; Thian, Marini; Medgyesi, David; Gülez, Nesrin; Magg, Thomas; Gallón Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M; Özer, Erdener; Akcal, Ömer; Conca, Raffaele; Patiroglu, Türkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia Milena; Franco, José Luis; Hauck, Fabian; Somech, Raz; Klein, Christoph; Boztug, Kaan