Nature Search

Type-zero copper proteins

Copper-containing proteins can be classified into types 1 and 2, depending on their functional or spectroscopic properties. Now, a protein that fits neither type has been built using a scaffold made from the protein Pseudomonas aeruginosa azurin.

Kyle M. Lancaster
Serena DeBeer George
Harry B. Gray
Research01 Nov 2009
Nature Chemistry

Volume: 1, P: 711-715
Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy

Scala et al. show that mobilized peripheral blood hematopoietic stem/progenitor cells are more enriched in repopulating stem cells than bone marrow. Moreover, the quantity and type of infused subsets correlated with gene therapy outcome in humans.

Serena Scala
Francesca Ferrua
Alessandro Aiuti
ResearchOpen Access27 May 2023
Nature Communications

Volume: 14, P: 1-18
In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking

In vivo gene delivery to haematopoietic stem and progenitor cells in newborn mice using engineered lentiviral vectors shows promise as an effective treatment for genetic diseases.

Michela Milani
Anna Fabiano
Luigi Naldini
ResearchOpen Access28 May 2025
Nature

Volume: 643, P: 1097-1106
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Mechanisms of hematopoietic clonal dominance in VEXAS syndrome

Analyses of single-cell transcriptomic data from patients with VEXAS syndrome combined with xenotransplantation experiments in a mouse model of the disease provide insights on the mechanisms of clonal dominance of mutated cells leading to bone marrow failure

Raffaella Molteni
Martina Fiumara
Samuele Ferrari
ResearchOpen Access07 Apr 2025
Nature Medicine

Volume: 31, P: 1911-1924
Long-term lineage commitment in haematopoietic stem cell gene therapy

Haematopoietic stem cell (HSC) clonogenic activity, lineage output, lineage commitment and somatic mutation rates are influenced by the underlying disease, patient age, extent of genetic defect correction and hematopoietic stress imposed by the inherited disease, suggesting HSC adaptation.

Andrea Calabria
Giulio Spinozzi
Eugenio Montini
ResearchOpen Access23 Oct 2024
Nature

Volume: 636, P: 162-171
Selective inhibitors of the FK506-binding protein 51 by induced fit

Inhibitors of FKBP51 with antidepressive activity are selective over the related FKBP52 and bind FKBP51 by an induced-fit mechanism that causes a conformational change. The analogous conformational change in FKBP52 generates a strained conformation.

Steffen Gaali
Alexander Kirschner
Felix Hausch
Research01 Dec 2014
Nature Chemical Biology

Volume: 11, P: 33-37
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID

Leukaemia development has been reported as an associated risk of haematopoietic stem cell gene therapy (HSPC-GT) using retroviral vectors in different diseases. Here, the authors show a case of T-cell acute lymphoid leukaemia in a patient with Adenosine Deaminase-deficient Severe Combined Immunodeficiency (ADA-SCID) treated with retroviral gene therapy.

Daniela Cesana
Maria Pia Cicalese
Alessandro Aiuti
ResearchOpen Access30 Apr 2024
Nature Communications

Volume: 15, P: 1-18
Oncogene-induced senescence in hematopoietic progenitors features myeloid restricted hematopoiesis, chronic inflammation and histiocytosis

BRAF-MAPK activating mutations are reported in histiocytoses—hematological neoplasms with widespread pro-inflammatory myeloid cells. Here, the authors show that an activating mutant BRAF in haematopoietic stem and progenitor cells causes an oncogene-induced senescence response leading to myeloid restricted haematopoiesis, inflammation and histiocytosis.

Riccardo Biavasco
Emanuele Lettera
Eugenio Montini
ResearchOpen Access27 Jul 2021
Nature Communications

Volume: 12, P: 1-18
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
Dynamics of genetically engineered hematopoietic stem and progenitor cells after autologous transplantation in humans

In vivo tracking of hematopoietic stem and progenitor cells in humans treated with lentiviral gene therapy unveils the resilience of hematopoietic stem cells and the long-term survival of lymphoid-biased precursors.

Serena Scala
Luca Basso-Ricci
Luca Biasco
Research01 Oct 2018
Nature Medicine

Volume: 24, P: 1683-1690
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Sweeter and stronger: enhancing sweetness and stability of the single chain monellin MNEI through molecular design

Serena Leone
Andrea Pica
Delia Picone
ResearchOpen Access23 Sept 2016
Scientific Reports

Volume: 6, P: 1-10
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

Marcello Scala
Nancy C. P. Leong
Long N. Nguyen
Research25 Mar 2025
European Journal of Human Genetics

P: 1-9
Immature forms of low density granulocytes are increased in acute myeloid leukemia and myelodysplastic syndromes

Angela Bertolini
Francesca Picone
Valentina Giudice
ResearchOpen Access13 Mar 2025
Scientific Reports

Volume: 15, P: 1-14
Cellular and transcriptional dynamics of human neutrophils at steady state and upon stress

Recent studies suggest that neutrophils can exhibit substantial function diversity. Here, Ostuni and colleagues perform immunophenotyping and transcriptome analysis to characterize the heterogeneity of human neutrophils, both under steady state and upon stress-induced conditions.

Elisa Montaldo
Eleonora Lusito
Renato Ostuni
Research22 Sept 2022
Nature Immunology

Volume: 23, P: 1470-1483
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

Monica Traverso
Serena Baratto
Marcello Scala
Research04 Jan 2024
European Journal of Human Genetics

Volume: 32, P: 342-349
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Iris Scala
Barbara Granese
Generoso Andria
Research01 Jul 2006
Genetics in Medicine

Volume: 8, P: 409-416
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Sergio Daga
Chiara Fallerini
Elisa Frullanti
ResearchOpen Access17 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 745-759
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti
Rossella Tita
Anna Maria Pinto
ResearchOpen Access17 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1602-1614
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Francesca Minnai
Filippo Biscarini
Francesca Colombo
ResearchOpen Access06 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
An explainable model of host genetic interactions linked to COVID-19 severity

A multifaceted computational strategy identifies 16 genetic variants contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing dataset of a cohort of Italian patients.

Anthony Onoja
Nicola Picchiotti
Francesco Raimondi
ResearchOpen Access26 Oct 2022
Communications Biology

Volume: 5, P: 1-14
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

Stefania Mantovani
Sergio Daga
Alessandra Renieri
ResearchOpen Access24 Dec 2021
Genes & Immunity

Volume: 23, P: 51-56

Search

Type-zero copper proteins

Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy

In vivo haemopoietic stem cell gene therapy enabled by postnatal trafficking

Mapping the human genetic architecture of COVID-19

Mechanisms of hematopoietic clonal dominance in VEXAS syndrome

Long-term lineage commitment in haematopoietic stem cell gene therapy

Selective inhibitors of the FK506-binding protein 51 by induced fit

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID

Oncogene-induced senescence in hematopoietic progenitors features myeloid restricted hematopoiesis, chronic inflammation and histiocytosis

Whole-genome sequencing reveals host factors underlying critical COVID-19

Dynamics of genetically engineered hematopoietic stem and progenitor cells after autologous transplantation in humans

Genetic mechanisms of critical illness in COVID-19

Sweeter and stronger: enhancing sweetness and stability of the single chain monellin MNEI through molecular design

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

Immature forms of low density granulocytes are increased in acute myeloid leukemia and myelodysplastic syndromes

Cellular and transcriptional dynamics of human neutrophils at steady state and upon stress

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

A first update on mapping the human genetic architecture of COVID-19

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

An explainable model of host genetic interactions linked to COVID-19 severity

Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

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