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Articles by Frédéric Ebstein
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder
Abstract Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 unrelated families.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
doi: https://doi.org/10.1101/2023.06.13.23290941 Abstract Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism.
Inhibition of FGF23 is a therapeutic strategy to target hematopoietic stem cell niche defects in β-thalassemia
Abstract Clinical evidence highlights a relationship between the blood and the bone, but the underlying mechanism linking these two tissues is not fully elucidated. Here, we used β-thalassemia as a model of congenital anemia with bone and bone marrow (BM) niche defects. We demonstrate that fibroblast growth factor 23 (FGF23) is increased in patients and mice with β-thalassemia because erythropoietin induces FGF23 overproduction in bone and BM erythroid cells via ERK1/2 and STAT5 pathways.
Gene-edited and -engineered stem cell platform drives immunotherapy for brain metastatic melanomas
Abstract Oncolytic virus therapy has shown activity against primary melanomas; however, its efficacy in brain metastases remains challenging, mainly because of the delivery and immunosuppressive nature of tumors in the brain. To address this challenge, we first established PTEN-deficient melanoma brain metastasis mouse models and characterized them to be more immunosuppressive compared with primary melanoma, mimicking the clinical settings.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Information & Authors Information Published In Science Translational Medicine Volume 15 | Issue 698 May 2023 Copyright Copyright © 2023 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. This is an article distributed under the terms of the Science Journals Default License.
Constitutive IL-1RA production by modified immune cells protects against IL-1-mediated inflammatory disorders
Information & Authors Information Published In Science Translational Medicine Volume 15 | Issue 698 May 2023 Copyright Copyright © 2023 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. This is an article distributed under the terms of the Science Journals Default License.
Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement
Malignant atrophic papulosis is a rare, thrombo-obliterative vasculopathy, with either a cutaneous benign presentation or a systemic severe presentation, predominantly affecting the gastrointestinal tract, lungs, and CNS. 1 Theodoridis A Konstantinidou A Makrantonaki E Zouboulis CC Malignant and benign forms of atrophic papulosis (Köhlmeier-Degos disease): systemic involvement determines the prognosis.
SIGLEC1 (CD169) as a potential diagnostical screening marker for monogenic interferonopathies
LETTER TO THE EDITOR Banu Orak Pediatric Pneumology, Immunology and Critical Care Medicine, Charité – Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany Contribution: Data curation (lead), Formal analysis (lead), Investigation (lead), Writing - original draft (lead) Search for more papers by this author Gonza Ngoumou Pediatric Pneumology, Immunology and Critical Care Medicine, Charité –...
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