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

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

磷酸葡萄糖变位酶-3缺乏症的扩展临床表型和长期预后

Wang, Chen; Patel, Meera; Urban, Amanda; Nelson, Celeste G; DiMaggio, Thomas; Heller, Theo; Cowen, Edward W; Kong, Heidi H; Kenney, Heather A; Santangeli, Enrico; Wang, Yanhan; Toribio-Dionicio, Crhistian; Akar-Ghibril, Nicole; Adeli, Mehdi; Gonzalez, Corina E; Holland, Steven M; Notarangelo, Luigi D; Milner, Joshua D; Lyons, Jonathan J; Freeman, Alexandra F

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

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Isolation of single neuronal nuclei by phospho‐tau accumulation in Alzheimer’s disease brain

阿尔茨海默病脑组织中磷酸化tau蛋白积累导致单个神经元核的分离

Moore, Ian N; Lamirande, Elaine W; Paskel, Myeisha; Donahue, Danielle; Kenney, Heather; Qin, Jing; Subbarao, Kanta; Habich, Annegret; van Tol, Bastiaan G J; Nemy, Milan; Firbank, Michael J; Taylor, John‐Paul; Westman, Eric; Ferreira, Daniel; Jin, Bowen; Naik, Samuel; Kirkham, Samantha L; Qian, Xuyu; Zhou, Zinan; Oakley, Derek; Frosch, Matt P; Hyman, Bradley T T; Huang, August Yue; Miller, Michael B

Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency

区分哮喘和支气管扩张症中的真伪:一名成人发病型 RAG1 缺陷患者的病程轨迹

Chitty Lopez, Maria; Yilmaz, Melis; Diaz-Cabrera, Natalie M; Saco, Tara; Ishmael, Leah; Sotoudeh, Shannon; Bindernagel, Constance; Ujhazi, Boglarka; Gordon, Sumai; Potts, David Evan; Danziger, Roger; Bosticardo, Marita; Kenney, Heather; Illes, Peter; Lee, Sena; Harris, Megan; Cuellar-Rodriguez, Jennifer; Patel, Kapil N; Csomos, Krisztian; Dimitrova, Dimana; Kanakry, Jennifer A; Notarangelo, Luigi D; Walter, Jolan E

Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757]

对“扩展 PAX1 缺陷型 SCID 和 CID 患者的临床和免疫表型”的更正 [临床免疫学 255 (2023) 109757]

Yakici, Nalan; Kreins, Alexandra Y; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Eke-Gungor, Hatice; Cea, Pablo A; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan; Bulutoglu, Alper; Bilgic-Eltan, Sevgi; Yorgun Altunbas, Melek; Bayram Catak, Feyza; Karakus, Ibrahim Serhat; Karatay, Emrah; Tekeoglu, Sidem Didar; Eser, Metin; Albayrak, Davut; Citli, Senol; Kiykim, Ayca; Karakoc-Aydiner, Elif; Ozen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazil; Notarangelo, Luigi D; Davies, E Graham; Baris, Safa

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

成人和儿童 COVID-19 中性粒细胞胞外陷阱失调的多中心分析

Carmona-Rivera, Carmelo; Zhang, Yu; Dobbs, Kerry; Markowitz, Tovah E; Dalgard, Clifton L; Oler, Andrew J; Claybaugh, Dillon R; Draper, Deborah; Truong, Meng; Delmonte, Ottavia M; Licciardi, Francesco; Ramenghi, Ugo; Crescenzio, Nicoletta; Imberti, Luisa; Sottini, Alessandra; Quaresima, Virginia; Fiorini, Chiara; Discepolo, Valentina; Lo Vecchio, Andrea; Guarino, Alfredo; Pierri, Luca; Catzola, Andrea; Biondi, Andrea; Bonfanti, Paolo; Poli Harlowe, Maria C; Espinosa, Yasmin; Astudillo, Camila; Rey-Jurado, Emma; Vial, Cecilia; de la Cruz, Javiera; Gonzalez, Ricardo; Pinera, Cecilia; Mays, Jacqueline W; Ng, Ashley; Platt, Andrew; Drolet, Beth; Moon, John; Cowen, Edward W; Kenney, Heather; Weber, Sarah E; Castagnoli, Riccardo; Magliocco, Mary; Stack, Michael A; Montealegre, Gina; Barron, Karyl; Fink, Danielle L; Kuhns, Douglas B; Hewitt, Stephen M; Arkin, Lisa M; Chertow, Daniel S; Su, Helen C; Notarangelo, Luigi D; Kaplan, Mariana J

Epididymal epithelium propels early sexual transmission of Zika virus in the absence of interferon signaling

附睾上皮在缺乏干扰素信号的情况下促进寨卡病毒的早期性传播

Pletnev, Alexander G; Maximova, Olga A; Liu, Guangping; Kenney, Heather; Nagata, Bianca M; Zagorodnyaya, Tatiana; Moore, Ian; Chumakov, Konstantin; Tsetsarkin, Konstantin A

Stable and Highly Immunogenic MicroRNA-Targeted Single-Dose Live Attenuated Vaccine Candidate against Tick-Borne Encephalitis Constructed Using Genetic Backbone of Langat Virus

利用朗加特病毒基因骨架构建的稳定且高免疫原性的靶向microRNA的单剂量减毒活疫苗候选株,用于预防蜱传脑炎

Tsetsarkin, Konstantin A; Maximova, Olga A; Liu, Guangping; Kenney, Heather; Teterina, Natalya L; Pletnev, Alexander G

Routes of Zika virus dissemination in the testis and epididymis of immunodeficient mice

寨卡病毒在免疫缺陷小鼠睾丸和附睾中的传播途径

Tsetsarkin, Konstantin A; Maximova, Olga A; Liu, Guangping; Kenney, Heather; Teterina, Natalia; Bloom, Marshall E; Grabowski, Jeffrey M; Mlera, Luwanika; Nagata, Bianca M; Moore, Ian; Martens, Craig; Amaro-Carambot, Emerito; Lamirande, Elaine W; Whitehead, Stephen S; Pletnev, Alexander G