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Author Details

Simone Furini
Department of Medical Biotechnologies, University of Siena
2006
89
21
PMIDPaper TitleJournal TitlePublished Year
36732665Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.Eur J Hum Genet2024
36653516Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.Eur J Hum Genet2024
35881528Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.Braz J Psychiatry2023
37572667CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.Cell Rep Med2023
36512342Early Steps in C-Type Inactivation of the hERG Potassium Channel.J Chem Inf Model2023
36493725Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.EBioMedicine2023
36793121Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.J Hematol Oncol2023
36210549Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.Am J Med Genet A2023
34964709The polymorphism L412F in <i>TLR3</i> inhibits autophagy and is a marker of severe COVID-19 in males.Autophagy2022
35782384<i>SPTBN5</i>, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.Front Mol Neurosci2022
35690068Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.Cell Syst2022
35746657Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19.Viruses2022
35618891Host genetic basis of COVID-19: from methodologies to genes.Eur J Hum Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
34952932Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.Genes Immun2022
34889978Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.Hum Genet2022
34356170Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.Brain Sci2021
33650967Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.Elife2021
33921689Protective Role of a <i>TMPRSS2</i> Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.Genes (Basel)2021
33781913Safety and immunogenicity of ChAd63-KH vaccine in post-kala-azar dermal leishmaniasis patients in Sudan.Mol Ther2021
34948243New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.Int J Mol Sci2021
34399825SELP Asp603Asn and severe thrombosis in COVID-19 males.J Hematol Oncol2021
34249755Expression and Role of Heparan Sulfated Proteoglycans in Pancreatic Cancer.Front Oncol2021
34323472Ion Conduction Mechanism as a Fingerprint of Potassium Channels.J Am Chem Soc2021
34203982Severe COVID-19 in Hospitalized Carriers of Single <i>CFTR</i> Pathogenic Variants.J Pers Med2021
34143643Proton Pump Inhibitors Directly Block hERG-Potassium Channel and Independently Increase the Risk of QTc Prolongation in a Large Cohort of US Veterans.Circ Arrhythm Electrophysiol2021
32541681AAV-mediated FOXG1 gene editing in human Rett primary cells.Eur J Hum Genet2020
31754267New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.Eur J Hum Genet2020
31809048Insights into the Mechanisms of K<sup>+</sup> Permeation in K<sup>+</sup> Channels from Computer Simulations.J Chem Theory Comput2020
33054190Critical Assessment of Common Force Fields for Molecular Dynamics Simulations of Potassium Channels.J Chem Theory Comput2020
33295174Conduction and Gating Properties of the TRAAK Channel from Molecular Dynamics Simulations with Different Force Fields.J Chem Inf Model2020
33206719Clinical and molecular characterization of COVID-19 hospitalized patients.PLoS One2020
32673616Effect of anionic lipids on ion permeation through the KcsA K<sup>+</sup>-channel.Biochim Biophys Acta Biomembr2020
32244919From Bivariate to Multivariate Analysis of Cytometric Data: Overview of Computational Methods and Their Application in Vaccination Studies.Vaccines (Basel)2020
32332872High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.Eur J Hum Genet2020
31293614Identification via Numerical Computation of Transcriptional Determinants of a Cell Phenotype Decision Making.Front Genet2019
31351058Modulation of the potassium channel KcsA by anionic phospholipids: Role of arginines at the non-annular lipid binding sites.Biochim Biophys Acta Biomembr2019
28546520Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.Cancer Res Treat2018
29730163iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.Exp Cell Res2018
29578536Burden-driven feedback control of gene expression.Nat Methods2018
29600712Molecular Dynamics Simulations of Orai Reveal How the Third Transmembrane Segment Contributes to Hydration and Ca<sup>2+</sup> Selectivity in Calcium Release-Activated Calcium Channels.J Phys Chem B2018
29735669Ion-triggered selectivity in bacterial sodium channels.Proc Natl Acad Sci U S A2018
27749392Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.Clin Dysmorphol2017
28239411Reliable measurement of <i>E. coli</i> single cell fluorescence distribution using a standard microscope set-up.J Biol Eng2017
28418051A structural bioinformatics investigation on protein-DNA complexes delineates their modes of interaction.Mol Biosyst2017
26891818Computational studies of transport in ion channels using metadynamics.Biochim Biophys Acta2016
27586285Voltage-Gated Sodium Channels: Mechanistic Insights From Atomistic Molecular Dynamics Simulations.Curr Top Membr2016
27653480Energetics of Ion Permeation in an Open-Activated TRPV1 Channel.Biophys J2016
27623250Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.Mol Genet Metab2016
27558721Exploring the Dynamics of the TWIK-1 Channel.Biophys J2016
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Collaborators

Alessandra Renieri
University of Siena
Co-authored papers 33
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Co-authored papers 20
John Kenneth Baillie
Roslin Institute, University of Edinburgh
Co-authored papers 3
John Brent Richards
Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 2
Eva C Schulte
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital
Co-authored papers 2
Kerstin U Ludwig
Institute of Human Genetics, University of Bonn
Co-authored papers 2
Axel Schmidt
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 2
Robert Frithiof
Uppsala University
Co-authored papers 2
Guillaume Butler-Laporte
McGill University
Co-authored papers 2
Miklos Lipcsey
Uppsala University
Co-authored papers 2
Michael Hultstr??m
Uppsala University
Co-authored papers 2
Szymon Pula
Co-authored papers 1
Daniel M Jordan
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Noam D Beckmann
Icahn School of Medicine at Mount Sinai.
Co-authored papers 1
Antonio Salas
Instituto de Investigacion Sanitaria de Santiago
Co-authored papers 1
Timothy Sanders
David Geffen School of Medicine, University of California-Los Angeles
Co-authored papers 1
Nicole Simons
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Efren Sandoval
Co-authored papers 1
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Monnat Pongpanich
Chulalongkorn University
Co-authored papers 1
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Francisco Tanudjaja
Co-authored papers 1
Mateusz Sypniewski
MNM Bioscience Inc.
Co-authored papers 1
Yanara Marincevic-Zuniga
Uppsala University
Co-authored papers 1
Alexandre Bolze
The Rockefeller University
Co-authored papers 1
Shaun Dabe
Co-authored papers 1
Ebtehal A Alsolm
King Fahad Medical City and King Abdulaziz City for Science and Technology
Co-authored papers 1
Tatsuhiko Naito
Osaka University Graduate School of Medicine
Co-authored papers 1
Olaf Riess
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Release 1.2