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

MicroRNA dysregulation in ataxia telangiectasia

毛细血管扩张性共济失调中的microRNA失调

Emilia Cirillo # ,Antonietta Tarallo # ,Elisabetta Toriello ,Annamaria Carissimo ,Giuliana Giardino ,Antonio De Rosa ,Carla Damiano ,Annarosa Soresina ,Raffaele Badolato ,Rosa Maria Dellepiane ,Lucia A Baselli ,Maria Carrabba ,Giovanna Fabio ,Patrizia Bertolini ,Davide Montin ,Francesca Conti ,Roberta Romano ,Elisa Pozzi ,Giulio Ferrero ,Roberta Roncarati ,Manuela Ferracin ,Alfredo Brusco ,Giancarlo Parenti # ,Claudio Pignata #

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency

基于 iPSC 的 ICF 综合征亚型 2 的新型模型重现了 ZBTB24 缺乏症的分子表型

Vincenzo Lullo, Francesco Cecere, Saveria Batti, Sara Allegretti, Barbara Morone, Salvatore Fioriniello, Laura Pisapia, Rita Genesio, Floriana Della Ragione, Giuliana Giardino, Claudio Pignata, Andrea Riccio, Maria R Matarazzo #, Maria Strazzullo #

Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi)

生长激素受体 (Ghr) 6ω 伪外显子激活:严重生长激素不敏感 (Ghi) 的新原因

Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo, Emanuele Miraglia Del Giudice, Adalgisa Festa, Stefania Palumbo, Donatella Capalbo, Mariacarolina Salerno, Claudio Pignata, Martin O Savage, Katharina Schilbach, Martin Bidlingmaier, Vivian Hwa, Louise A Metherell, A

CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations

患有特定 TRIM37 突变的 Mulibrey 患者的 CD4+ T 细胞缺陷

Sara Bruzzaniti, Emilia Cirillo, Rosaria Prencipe, Giuliana Giardino, Maria Teresa Lepore, Federica Garziano, Francesco Perna, Claudio Procaccini, Luigi Mascolo, Cristina Pagano, Valentina Fattorusso, Enza Mozzillo, Maurizio Bifulco, Giuseppe Matarese, Adriana Franzese, Claudio Pignata, Mario Galgan

Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels

六名 IgM 水平极高的患者的临床、免疫学和功能特征

Vera Gallo, Emilia Cirillo, Rosaria Prencipe, Alessio Lepore, Luigi Del Vecchio, Giulia Scalia, Vincenzo Martinelli, Gigliola Di Matteo, Carol Saunders, Anne Durandy, Viviana Moschese, Antonio Leonardi, Giuliana Giardino, Claudio Pignata

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

免疫失调多发性内分泌病性肠病 X-连锁中和抗干扰素-α 抗细胞因子自身抗体

Jacob M Rosenberg, Maria E Maccari, Federica Barzaghi, Eric J Allenspach, Claudio Pignata, Giovanna Weber, Troy R Torgerson, Paul J Utz, Rosa Bacchetta

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation

人类 B 细胞活化的高内涵流式细胞术和转录组生物标志物分析

Christian Hennig, Claudia Ilginus, Kaan Boztug, Julia Skokowa, Laszlo Marodi, Anna Szaflarska, Mareike Sass, Claudio Pignata, Sara Sebnem Kilic, Isabel Caragol, Ulrich Baumann, Christoph Klein, Karl Welte, Gesine Hansen

Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation

人类 FOXN1 缺陷与 αβ 双阴性和 FoxP3+ T 细胞扩增有关,而这些扩增在胸腺移植后会受到明显调节

Adriana S Albuquerque, José G Marques, Susana L Silva, Dario Ligeiro, Blythe H Devlin, Jacques Dutrieux, Rémi Cheynier, Claudio Pignata, Rui M M Victorino, M Louise Markert, Ana E Sousa

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

首次应用胸腺移植治疗FOXN1缺陷(裸鼠/SCID):附2例报告

M Louise Markert, José G Marques, Bénédicte Neven, Blythe H Devlin, Elizabeth A McCarthy, Ivan K Chinn, Adriana S Albuquerque, Susana L Silva, Claudio Pignata, Geneviève de Saint Basile, Rui M Victorino, Capucine Picard, Marianne Debre, Nizar Mahlaoui, Alain Fischer, Ana E Sousa