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Stem Cell Research|November 8, 2019
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 geneStefania Masneri, Gaetana Lanzi, Rosalba Monica Ferraro, et al.
Blood|July 31, 2004
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlationYinzhu Jin, Cinzia Mazza, Jacinda R Christie, et al.
Human Molecular Genetics|September 7, 2013
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasiaLeslie E Rogler, Brian Kosmyna, David Moskowitz, et al.
Journal of Alzheimer'S Disease : JAD|April 11, 2022
Differences Between Plasma and Cerebrospinal Fluid p-tau181 and p-tau231 in Early Alzheimer's DiseaseAndrea Pilotto, Marta Parigi, Giulio Bonzi, et al.
Stem Cell Reviews and Reports|August 21, 2024
Progesterone receptor is constitutively expressed in induced Pluripotent Stem Cells (iPSCs)Michele Manganelli, Elena Laura Mazzoldi, Rosalba Monica Ferraro, et al.
The Journal of Allergy and Clinical Immunology|January 30, 2010
Defect of regulatory T cells in patients with Omenn syndromeBarbara Cassani, Pietro Luigi Poliani, Daniele Moratto, et al.
The Journal of Allergy and Clinical Immunology|April 29, 2015
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiencyKerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, et al.
Journal of Clinical Immunology|April 5, 2024
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor RuxolitinibLaura Dotta, Francesca Todaro, Manuela Baronio, et al.
The Journal of Allergy and Clinical Immunology|February 9, 2018
Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammationLucia Sereni, Maria Carmina Castiello, Francesco Marangoni, et al.
Immunological Reviews|January 22, 2005
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patientsSilvia Giliani, Luigi Mori, Geneviève de Saint Basile, et al.
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