Nature Search

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
Activity-dependent expression of Channelrhodopsin at neuronal synapses

Changes to subsets of dendritic spines are thought to be important for memory formation. Here, the authors develop a hybrid RNA/protein tool that allows for optogenetic stimulation of single synapses that have been tagged in an activity-dependent manner

Francesco Gobbo
Laura Marchetti
Antonino Cattaneo
ResearchOpen Access20 Nov 2017
Nature Communications

Volume: 8, P: 1-14
Classification grid and evidence matrix for evaluating digital medical devices under the European union landscape

Magali Boers
Aude Rochereau
M. Marchetti
ResearchOpen Access24 May 2025
npj Digital Medicine

Volume: 8, P: 1-10
International nomenclature guidelines for the IL-1 family of cytokines and receptors

Joseph M. Gaballa
Jesper Falkesgaard Højen
Diana Boraschi
Correspondence18 Mar 2024
Nature Immunology

Volume: 25, P: 581-582
Caspase-3 triggers early synaptic dysfunction in a mouse model of Alzheimer's disease

In a mouse model of Alzheimer's disease, the authors find that early loss of AMPA receptors at synapses at onset of cognitive dysfunction is a result of activation of the phosphatase calcineurin by caspase-3. Inhibition of caspase activity rescued both synapse density and fear memory in this model.

Marcello D'Amelio
Virve Cavallucci
Francesco Cecconi
Research12 Dec 2010
Nature Neuroscience

Volume: 14, P: 69-76
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
Machine-learning-guided recognition of α and β cells from label-free infrared micrographs of living human islets of Langerhans

Fabio Azzarello
Francesco Carli
Francesco Cardarelli
ResearchOpen Access20 Jun 2024
Scientific Reports

Volume: 14, P: 1-12
Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations

Mutational signature analyses of de novo mutations in multi-child human families suggest that inaccurate DNA mismatch repair, DNA damage, and replication errors are major sources of age-related increases in germline mutations.

Habiballah Shojaeisaadi
Andrew Schoenrock
Francesco Marchetti
ResearchOpen Access06 Nov 2024
Communications Biology

Volume: 7, P: 1-12
Error-corrected next-generation sequencing to advance nonclinical genotoxicity and carcinogenicity testing

Error-corrected next-generation sequencing (ecNGS) is an emerging technology with the potential to revolutionize the field of genetic toxicology. Here, we present recommendations from an expert working group convened to discuss potential applications, advantages and challenges associated with implementing ecNGS in nonclinical safety studies.

Francesco Marchetti
Renato Cardoso
Sheroy Minocherhomji
Comments & Opinion16 Jan 2023
Nature Reviews Drug Discovery

Volume: 22, P: 165-166
Prognostic and predictive biomarkers for immunotherapy in advanced renal cell carcinoma

The approval of immunotherapy agents to treat patients with metastatic renal cell carcinoma revolutionized the therapeutic landscape for this disease, but a large number of patients still do not experience objective and durable response, and biomarkers to identify response to immunotherapy are urgently needed. In this Review, the authors describe strength and limitations of currently available prognostic and predictive biomarkers in metastatic renal cell carcinoma and discuss emerging promising biomarkers that deserve further investigation.

Matteo Rosellini
Andrea Marchetti
Francesco Massari
Reviews21 Nov 2022
Nature Reviews Urology

Volume: 20, P: 133-157
Two-photon all-optical neurophysiology for the dissection of larval zebrafish brain functional and effective connectivity

Two-photon light-sheet imaging and AOD-based optogenetic stimulation enable the detailed reconstruction of the left habenula functional connectivity in translucent larval zebrafish, offering a promising avenue towards brain function unraveling.

Lapo Turrini
Pietro Ricci
Francesco Saverio Pavone
ResearchOpen Access04 Oct 2024
Communications Biology

Volume: 7, P: 1-16
Author Correction: Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses

Jonatan Axelsson
Danielle LeBlanc
Carole Yauk
Amendments and CorrectionsOpen Access19 Dec 2024
Scientific Reports

Volume: 14, P: 1
Unveiling nanoscale optical signatures of cytokine-induced β-cell dysfunction

Licia Anna Pugliese
Valentina De Lorenzi
Francesco Cardarelli
ResearchOpen Access16 Aug 2023
Scientific Reports

Volume: 13, P: 1-14
Effects of urban-induced mutations on ecology, evolution and health

Pollution in urban areas causes higher rates of mutation than in unpolluted areas. This Perspective discusses the effects of these mutations on the health, evolutionary fitness and ecology of urban organisms.

Marc T. J. Johnson
Irtaqa Arif
Kristin M. Winchell
Reviews19 Apr 2024
Nature Ecology & Evolution

Volume: 8, P: 1074-1086
Catalysis and Structure of Zebrafish Urate Oxidase Provide Insights into the Origin of Hyperuricemia in Hominoids

Marialaura Marchetti
Anastasia Liuzzi
Riccardo Percudani
ResearchOpen Access06 Dec 2016
Scientific Reports

Volume: 6, P: 1-13
Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair

Francesco Marchetti
Jack Bishop
Andrew J. Wyrobek
ResearchOpen Access08 Jan 2015
Scientific Reports

Volume: 5, P: 1-7
Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses

Jonatan Axelsson
Danielle LeBlanc
Carole Yauk
ResearchOpen Access08 Oct 2024
Scientific Reports

Volume: 14, P: 1-15
Ambra1 regulates autophagy and development of the nervous system

The identification of the large protein Ambra-1, which regulates autophagy and plays a crucial role in embryogenesis is described. The absence of Ambra-1 function during development results in severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death.

Gian Maria Fimia
Anastassia Stoykova
Francesco Cecconi
Research24 Jun 2007
Nature

Volume: 447, P: 1121-1125
Chemically induced mutations in a MutaMouse reporter gene inform mechanisms underlying human cancer mutational signatures

Marc A. Beal, Matt J. Meier et al. use a transgenic rodent model with NGS to inform mutational signature analyses. They analyze lacZ mutations from the bone marrow of MutaMouse animals exposed to chemical mutagens. They report that lacZ sequencing generates chemical-specific mutation signatures observed in human cancers with established environmental causes.

Marc A. Beal
Matthew J. Meier
Francesco Marchetti
ResearchOpen Access14 Aug 2020
Communications Biology

Volume: 3, P: 1-11
Pregnancy disorders leading to very preterm birth influence neonatal outcomes: results of the population-based ACTION cohort study

Luigi Gagliardi
Franca Rusconi
Marina Cuttini
Research14 Mar 2013
Pediatric Research

Volume: 73, P: 794-801
A machine-learning parsimonious multivariable predictive model of mortality risk in patients with Covid-19

Rita Murri
Jacopo Lenkowicz
Lorenzo Zileri Dal Verme
ResearchOpen Access27 Oct 2021
Scientific Reports

Volume: 11, P: 1-10
Whole Genome Sequencing of the Mutamouse Model Reveals Strain- and Colony-Level Variation, and Genomic Features of the Transgene Integration Site

Matthew J. Meier
Marc A. Beal
Francesco Marchetti
ResearchOpen Access24 Sept 2019
Scientific Reports

Volume: 9, P: 1-15
Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring

Marc Beal et al. investigate the genomic consequences of paternal exposure to benzo(a)pyrene (BaP), a common carcinogenic pollutant found in car exhaust fumes, tobacco smoke and grilled meats. They find that mouse offspring from males exposed to BaP have more de novo mutations, suggesting BaP exposure in males is associated with adverse health outcomes in offspring.

Marc A. Beal
Matthew J. Meier
Carole L. Yauk
ResearchOpen Access20 Jun 2019
Communications Biology

Volume: 2, P: 1-10
Next generation sequencing of benzo(a)pyrene-induced lacZ mutants identifies a germ cell-specific mutation spectrum

Jason M. O’Brien
Marc A. Beal
Francesco Marchetti
ResearchOpen Access10 Nov 2016
Scientific Reports

Volume: 6, P: 1-10
Identification of small molecules affecting the interaction between human hemoglobin and Staphylococcus aureus IsdB hemophore

Monica Cozzi
Mariacristina Failla
Francesca Spyrakis
ResearchOpen Access09 Apr 2024
Scientific Reports

Volume: 14, P: 1-21
Single-cell imaging of α and β cell metabolic response to glucose in living human Langerhans islets

A combination of live imaging and immunofluorescence on donor islet cells uncover an anti-correlation of enzyme-bound NAD(P)H and insulin secretion power.

Fabio Azzarello
Luca Pesce
Francesco Cardarelli
ResearchOpen Access12 Nov 2022
Communications Biology

Volume: 5, P: 1-10
Insulin secretory granules labelled with phogrin-fluorescent proteins show alterations in size, mobility and responsiveness to glucose stimulation in living β-cells

Gianmarco Ferri
Luca Digiacomo
Francesco Cardarelli
ResearchOpen Access27 Feb 2019
Scientific Reports

Volume: 9, P: 1-12
Atorvastatin but Not Pravastatin Impairs Mitochondrial Function in Human Pancreatic Islets and Rat β-Cells. Direct Effect of Oxidative Stress

Francesca Urbano
Marco Bugliani
Salvatore Piro
ResearchOpen Access19 Sept 2017
Scientific Reports

Volume: 7, P: 1-17
Reduced miR-184-3p expression protects pancreatic β-cells from lipotoxic and proinflammatory apoptosis in type 2 diabetes via CRTC1 upregulation

Giuseppina E. Grieco
Noemi Brusco
Francesco Dotta
ResearchOpen Access29 Jul 2022
Cell Death Discovery

Volume: 8, P: 1-13
Correction: Corrigendum: Precursor and mature NGF live tracking: one versus many at a time in the axons

Teresa De Nadai
Laura Marchetti
Antonino Cattaneo
Amendments and CorrectionsOpen Access30 Mar 2016
Scientific Reports

Volume: 6, P: 1
Palmitate-induced lipotoxicity alters acetylation of multiple proteins in clonal β cells and human pancreatic islets

Federica Ciregia
Marco Bugliani
Piero Marchetti
ResearchOpen Access18 Oct 2017
Scientific Reports

Volume: 7, P: 1-12
The prognostic relevance of HER2-positivity gain in metastatic breast cancer in the ChangeHER trial

Laura Pizzuti
Maddalena Barba
Patrizia Vici
ResearchOpen Access02 Jul 2021
Scientific Reports

Volume: 11, P: 1-10
Multi-segment rupture of the 2016 Amatrice-Visso-Norcia seismic sequence (central Italy) constrained by the first high-quality catalog of Early Aftershocks

Luigi Improta
Diana Latorre
R. Di Maro
ResearchOpen Access06 May 2019
Scientific Reports

Volume: 9, P: 1-13
Precursor and mature NGF live tracking: one versus many at a time in the axons

Teresa De Nadai
Laura Marchetti
Antonino Cattaneo
ResearchOpen Access01 Feb 2016
Scientific Reports

Volume: 6, P: 1-12
Nanosensor dosimetry of mouse blood proteins after exposure to ionizing radiation

Dokyoon Kim
Francesco Marchetti
Shan X. Wang
ResearchOpen Access19 Jul 2013
Scientific Reports

Volume: 3, P: 1-8
Murine model of left ventricular diastolic dysfunction and electro-mechanical uncoupling following high-fat diet

Serena L’Abbate
Nicole Di Lascio
Claudia Kusmic
Research02 Dec 2019
International Journal of Obesity

Volume: 44, P: 1428-1439
Author Correction: Atorvastatin but Not Pravastatin Impairs Mitochondrial Function in Human Pancreatic Islets and Rat β-Cells. Direct Effect of Oxidative Stress

Francesca Urbano
Marco Bugliani
Salvatore Piro
Amendments and CorrectionsOpen Access10 Dec 2020
Scientific Reports

Volume: 10, P: 1-3
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet

Tiziano Barbui
Ayalew Tefferi
Giovanni Barosi
Reviews27 Feb 2018
Leukemia

Volume: 32, P: 1057-1069

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