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

Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function

TLR8功能获得性突变患者的临床特征、治疗和造血干细胞移植

Arnold, Danielle E; Kaviany, Saara; Aluri, Jahnavi; Calvo, Katherine R; Mehta, Sarah S; Tobin, Joshua M; Schuettpelz, Laura G; Saucier, Nermina; Schmitz, Elizabeth G; Murguía-Favela, Luis; Wright, Nicola A M; De Ravin, Suk See; Rao, V Koneti; Holland, Steven M; Bleesing, Jack J; Loughran, Thomas P Jr; Feith, David J; Powell, Jonathan; Ratan, Aakrosh; Warren, Julia T; Pai, Sung-Yun; Bednarski, Jeffrey J; Connelly, James A; Cooper, Megan A

Lymphedema in patients with X-linked severe combined immunodeficiency

X连锁重症联合免疫缺陷患者的淋巴水肿

Consonni, Filippo; De Ravin, Suk See; Vignes, Stephane; Courteille, Virginie; Cavazzana, Marina; Berteloot, Laureline; Fischer, Alain; Neven, Bénédicte

Custom CRISPR-Cas9 PAM variants via scalable engineering and machine learning

通过可扩展的工程和机器学习技术构建定制的 CRISPR-Cas9 PAM 变体

Silverstein, Rachel A; Kim, Nahye; Kroell, Ann-Sophie; Walton, Russell T; Delano, Justin; Butcher, Rossano M; Pacesa, Martin; Smith, Blaire K; Christie, Kathleen A; Ha, Leillani L; Meis, Ronald J; Clark, Aaron B; Spinner, Aviv D; Lazzarotto, Cicera R; Li, Yichao; Matsubara, Azusa; Urbina, Elizabeth O; Dahl, Gary A; Correia, Bruno E; Marks, Debora S; Tsai, Shengdar Q; Pinello, Luca; De Ravin, Suk See; Liu, Qin; Kleinstiver, Benjamin P

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

A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS).

磷脂酰肌醇 3-激酶调节亚基 1 (PIK3R1) 中的一种新型移码突变会导致免疫缺陷和肌萎缩侧索硬化症 (ALS)

Calco Brice, Sweeney Colin L, Steiner Joseph, Wang Tongguang, Markowitz Tovah E, Paul Subrata, Palicha Bianca, Dinges Sara, Yoo Kelsey, Henderson Lisa, McDonald Valerie, De Ravin Suk See, Greenberg Benjamin, Zerbe Christa S, Notarangelo Luigi D, Holland Steven M, Nath Avindra, Safavi Farinaz

Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques

CRISPR/HDR 编辑与慢病毒转导对恒河猴造血干细胞长期移植和克隆动态的影响

Lee, Byung-Chul; Gin, Ashley; Wu, Chuanfeng; Singh, Komudi; Grice, Max; Mortlock, Ryland; Abraham, Diana; Fan, Xing; Zhou, Yifan; AlJanahi, Aisha; Choi, Uimook; DeRavin, Suk See; Shin, Taehoon; Hong, Sogun; Dunbar, Cynthia E

Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques

CRISPR/HDR 编辑与慢病毒转导对恒河猴造血干细胞长期移植和克隆动态的影响

Byung-Chul Lee ,Ashley Gin ,Chuanfeng Wu ,Komudi Singh ,Max Grice ,Ryland Mortlock ,Diana Abraham ,Xing Fan ,Yifan Zhou ,Aisha AlJanahi ,Uimook Choi ,Suk See DeRavin ,Taehoon Shin ,Sogun Hong ,Cynthia E Dunbar

High-fidelity PAMless base editing of hematopoietic stem cells to treat chronic granulomatous disease

利用高保真无PAM碱基编辑技术对造血干细胞进行治疗慢性肉芽肿病

Bzhilyanskaya, Vera; Ma, Linyuan; Liu, Siyuan; Fox, Lauren R; Whittaker, Madelynn N; Meis, Ronald J; Choi, Uimook; Lawson, Amanda; Ma, Michelle; Theobald, Narda; Burkett, Sandra; Sweeney, Colin L; Lazzarotto, Cicera R; Tsai, Shengdar Q; Lack, Justin B; Wu, Xiaolin; Dahl, Gary A; Malech, Harry L; Kleinstiver, Benjamin P; De Ravin, Suk See

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients

移植严重联合免疫缺陷症 (SCID) 患者的迟发型肠道病毒感染与肝炎 (EVAH)

Quentin Riller, Jacques Fourgeaud, Julie Bruneau, Suk See De Ravin, Grace Smith, Mathieu Fusaro, Samy Meriem, Aude Magerus, Marine Luka, Ghaith Abdessalem, Ludovic Lhermitte, Anne Jamet, Emmanuelle Six, Alessandra Magnani, Martin Castelle, Romain Lévy, Mathilde M Lecuit, Benjamin Fournier, Sarah Win

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease

慢性肉芽肿病患者的肠道微生物组和代谢组特征

Chandrasekaran, Prabha; Han, Yu; Zerbe, Christa S; Heller, Theo; DeRavin, Suk See; Kreuzberg, Samantha A; Marciano, Beatriz E; Siu, Yik; Jones, Drew R; Abraham, Roshini S; Stephens, Michael C; Tsou, Amy M; Snapper, Scott; Conlan, Sean; Subramanian, Poorani; Quinones, Mariam; Grou, Caroline; Calderon, Virginie; Deming, Clayton; Leiding, Jennifer W; Arnold, Danielle E; Logan, Brent R; Griffith, Linda M; Petrovic, Aleksandra; Mousallem, Talal I; Kapoor, Neena; Heimall, Jennifer R; Barnum, Jessie L; Kapadia, Malika; Wright, Nicola; Rayes, Ahmad; Chandra, Sharat; Broglie, Larisa A; Chellapandian, Deepak; Deal, Christin L; Grunebaum, Eyal; Lim, Stephanie Si; Mallhi, Kanwaldeep; Marsh, Rebecca A; Murguia-Favela, Luis; Parikh, Suhag; Touzot, Fabien; Cowan, Morton J; Dvorak, Christopher C; Haddad, Elie; Kohn, Donald B; Notarangelo, Luigi D; Pai, Sung-Yun; Puck, Jennifer M; Pulsipher, Michael A; Torgerson, Troy R; Kang, Elizabeth M; Malech, Harry L; Segre, Julia A; Bryant, Clare E; Holland, Steven M; Falcone, Emilia Liana