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

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

134种生殖系PU.1变异体及其携带者的无丙种球蛋白血症患者

Knox, Ainsley V C; Cominsky, Lauren Y; Sun, Di; Cruz Cabrera, Emylette; Nolan, Brian E; Ofray, Edann; Benetti, Elisa; Visconti, Camilla; Barzaghi, Federica; Rosenzweig, Sergio D; Lawrence, Monica G; Sullivan, Kathleen E; Yoon, Samuel; Rachimi, Suzanna; Padem, Nurcicek; Conboy, Erin; Stojanovic, Maja; Petrovic, Gordana; Pasic, Srdjan; Church, Joseph; Ferdman, Ronald M; Candotti, Fabio; Arlabosse, Tiphaine; Theodoropoulou, Katerina; Dutmer, Cullen M; Maródi, László; Szücs, Gabriella; Broides, Arnon; Nahum, Amit; Levy, Jacov; Kettunen, Kaisa; Daddali, Ravindra; Seppänen, Mikko; Vänttinen, Markku; Martelius, Timi; Grönholm, Juha; Peri, Matilde; Azzari, Chiara; Ricci, Silvia; Ojaimi, Samar; Edwards, Emily S J; van Zelm, Menno C; Sun, Jinqiao; Abolhassani, Hassan; Pan-Hammarström, Qiang; Hakonarson, Hakon; Mayr, Daniel; Boztug, Kaan; Boisson, Bertrand; Casanova, Jean-Laurent; Le Coz, Carole; Poon, Gregory M K; Romberg, Neil

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 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami

一名患有阿拉扎米综合征的2岁儿童,新近发现免疫缺陷、脑室周围结节性异位症和卒中;阿拉扎米综合征表型的拓展

Fauntleroy-Love, Kristin D; Wilson, Theodore E; Padem, Nurcicek; Golomb, Meredith R

Schistosoma mansoni Egg-Secreted Antigens Activate Hepatocellular Carcinoma-Associated Transcription Factors c-Jun and STAT3 in Hamster and Human Hepatocytes

曼氏血吸虫卵分泌抗原激活仓鼠和人肝细胞中的肝细胞癌相关转录因子c-Jun和STAT3

Roderfeld, Martin; Padem, Sevinc; Lichtenberger, Jakob; Quack, Thomas; Weiskirchen, Ralf; Longerich, Thomas; Schramm, Gabriele; Churin, Yuri; Irungbam, Karuna; Tschuschner, Annette; Windhorst, Anita; Grevelding, Christoph G; Roeb, Elke

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

杂合 FOXN1 变异导致 TREC 水平低和严重 T 细胞淋巴细胞减少,揭示了 FOXN1 在支持早期胸腺生成中的关键作用

Marita Bosticardo, Yasuhiro Yamazaki, Jennifer Cowan, Giuliana Giardino, Cristina Corsino, Giulia Scalia, Rosaria Prencipe, Melanie Ruffner, David A Hill, Inga Sakovich, Irma Yemialyanava, Jonathan S Tam, Nurcicek Padem, Melissa E Elder, John W Sleasman, Elena Perez, Hana Niebur, Christine M Seroogy