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View article: Hematopoietic stem cell transplantation in 746 children with osteopetrosis: A study of the inborn errors working party of the EBMT
Hematopoietic stem cell transplantation in 746 children with osteopetrosis: A study of the inborn errors working party of the EBMT Open
Introduction Osteopetrosis (OP) is a group of rare inherited conditions characterized by dysfunctional osteoclasts, leading to hypocalcemia, cytopenia, bone fractures, compression of cranial nerves and vision loss. Hematopoietic stem cell …
View article: OMIP‐116: A 39‐Color Full Spectrum Flow Cytometric Panel to Deeply Characterize Human Thymopoiesis
OMIP‐116: A 39‐Color Full Spectrum Flow Cytometric Panel to Deeply Characterize Human Thymopoiesis Open
We report the development of a 39‐color (43‐parameter) full spectrum flow cytometry panel designed and optimized to deeply characterize the intrathymic development of human conventional and unconventional T cells. The panel was designed us…
View article: Anomalous Water Fluorescence Induced by Solutes
Anomalous Water Fluorescence Induced by Solutes Open
The origin of recently reported anomalous fluorescence emissions from aqueous solutions of nonaromatic solutes remains elusive. To determine whether the solute nature influences the fluorescence characteristics and to identify a potential …
View article: P-137 Validation of a novel artificial intelligence (AI) model assessing retrospective oocyte images to predict blastocyst PGT-A outcomes
P-137 Validation of a novel artificial intelligence (AI) model assessing retrospective oocyte images to predict blastocyst PGT-A outcomes Open
Study question Can a non-invasive image analysis AI (Ploidy) model predict the likelihood that a mature oocyte will develop into a euploid blastocyst from previously unseen data? Summary answer The Ploidy AI model assesses oocyte images fr…
View article: In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking
In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking Open
Lentiviral vector (LV)-mediated ex vivo gene therapy for haematopoietic stem and progenitor cells (HSPCs) has delivered on the promise of a 'one-and-done' treatment for several genetic diseases1. However, ex vivo manipulation and patient c…
View article: WASp activity in macrophages prevents mechano-induced inflammation by protecting the nuclear envelope
WASp activity in macrophages prevents mechano-induced inflammation by protecting the nuclear envelope Open
Mutations in the immune-specific actin regulator WASp induce a proinflammatory state in myeloid cells, whose underlying causes remain poorly defined. Here, we applied microfabricated tools that mimic tissue mechanical forces to explore the…
View article: A p38 MAPK-ROS axis fuels proliferation stress and DNA damage during CRISPR-Cas9 gene editing in hematopoietic stem and progenitor cells
A p38 MAPK-ROS axis fuels proliferation stress and DNA damage during CRISPR-Cas9 gene editing in hematopoietic stem and progenitor cells Open
Ex vivo activation is a prerequisite to reaching adequate levels of gene editing by homology-directed repair (HDR) for hematopoietic stem and progenitor cell (HSPC)-based clinical applications. Here, we show that shortening culture time mi…
View article: Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning
Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning Open
Introduction Autosomal recessive osteopetrosis (ARO) is a rare genetic disease, characterized by increased bone density due to defective osteoclast function. Most of the cases are due to TCIRG1 gene mutation, leading to severe bone phenoty…
View article: <i>Pneumocystis murina</i> lesions in lungs of experimentally infected Cd40l<sup>–/–</sup> mice
<i>Pneumocystis murina</i> lesions in lungs of experimentally infected Cd40l<sup>–/–</sup> mice Open
The Cd40l –/– mouse is a well-established model of X-linked hyper-immunoglobulin M (IgM) syndrome, an immunodeficiency disorder of human beings characterized by the lack of expression of the CD40 ligand (CD40L) on activated T-cells, predis…
View article: Between export-led growth and administrative Keynesianism: Italy’s two-tiered growth regime
Between export-led growth and administrative Keynesianism: Italy’s two-tiered growth regime Open
Comparative political economy scholarship struggles to categorise Italy’s model of capitalism between a mixed-market economy and a hybrid, stagnant economic system. To enhance our understanding of the Italian political economy, this articl…
View article: Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs Open
Thymic epithelial tumors (TETs) are rare mediastinal cancers originating from the thymus, classified in two main histotypes: thymoma and thymic carcinoma (TC). TETs affect a primary lymphoid organ playing a critical role in keeping T-cell …
View article: Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency Open
Recombination activating genes ( RAGs ) are tightly regulated during lymphoid differentiation, and their mutations cause a spectrum of severe immunological disorders. Hematopoietic stem and progenitor cell (HSPC) transplantation is the tre…
View article: Embryonic lymphocytes contribute to a genetic form of autoimmune inflammation
Embryonic lymphocytes contribute to a genetic form of autoimmune inflammation Open
Omenn Syndrome (OS) is a rare hematological disorder, caused by hypomorphic mutations in genes involved in B-/T-cell receptor (BCR/TCR) rearrangement that result in impaired lymphocyte development and immunodeficiency. Notwithstanding, few…
View article: Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations Open
Introduction Recombination activating genes ( RAG ) 1 and 2 defects are the most frequent form of severe combined immunodeficiency (SCID). Patients with residual RAG activity have a spectrum of clinical manifestations ranging from Omenn sy…
View article: EFSA Pilot Project on NAMs for the hazard assessment of nanofibers. Lot 2: ‘Exploring the use of gut‐on‐a‐chip models for risk assessments of nanofibers’
EFSA Pilot Project on NAMs for the hazard assessment of nanofibers. Lot 2: ‘Exploring the use of gut‐on‐a‐chip models for risk assessments of nanofibers’ Open
The present project aimed to improve our understanding of potential effect of nanocellulose (NC) ingestion on human health, addressing some key objectives set by the European Food Safety Authority (EFSA). In particular, the use and improve…
View article: P1405: IN-DEPTH GENOME INTEGRITY EVALUATION AND GMP-COMPLIANT MANUFACTURING OF HDR GENE EDITED CD4+ T CELLS FOR THE TREATMENT OF HYPER IGM 1
P1405: IN-DEPTH GENOME INTEGRITY EVALUATION AND GMP-COMPLIANT MANUFACTURING OF HDR GENE EDITED CD4+ T CELLS FOR THE TREATMENT OF HYPER IGM 1 Open
Topic: 25. Gene therapy, cellular immunotherapy and vaccination - Clinical Background: We have been developing a treatment for Hyper IgM 1, a combined immunodeficiency caused by mutations in the X-linked CD40LG gene, by homology driven rec…
View article: A novel peptide ‘T14’ reflects age and photo-aging in human skin
A novel peptide ‘T14’ reflects age and photo-aging in human skin Open
T14 is a 14mer peptide derived from the C-terminus of acetylcholinesterase (AChE). Once cleaved, it is independently bioactive of the parent molecule and enhances calcium influx in different cell types, in a range of scenarios: it binds to…
View article: Social investment, labour market participation and public debt sustainability: An empirical analysis of European countries
Social investment, labour market participation and public debt sustainability: An empirical analysis of European countries Open
This article explores the role of SI Stock, Flow and Buffer policies by shedding light on their relationships with active labour market participation and public debt sustainability for a panel of 22 European countries from 1997 to 2018. We…
View article: Correcting inborn errors of immunity: From viral mediated gene addition to gene editing
Correcting inborn errors of immunity: From viral mediated gene addition to gene editing Open
Allogeneic hematopoietic stem cell transplantation is an effective treatment to cure inborn errors of immunity. Remarkable progress has been achieved thanks to the development and optimization of effective combination of advanced condition…
View article: Fluorescence of KCl Aqueous Solution: A Possible Spectroscopic Signature of Nucleation
Fluorescence of KCl Aqueous Solution: A Possible Spectroscopic Signature of Nucleation Open
Ion pairing in water solutions alters both the water hydrogen-bond network and ion solvation, modifying the dynamics and properties of electrolyte water solutions. Here, we report an anomalous intrinsic fluorescence of KCl aqueous solution…
View article: A sequential patent search approach combining semantics and artificial intelligence to identify initial State-of-the-Art documents
A sequential patent search approach combining semantics and artificial intelligence to identify initial State-of-the-Art documents Open
The classic search in patent literature using keywords and patent classes is increasingly supplemented by novel search techniques, which apply semantic search concepts or artificial intelligence. Hypothetically, a combination of semantics …