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Open AccessAn RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian population. A unique therapeutic drug for FRDA, the antioxidant Omaveloxolone, has been ...
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Open AccessCorrection: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Open AccessCOVID-19 annual update: a narrative review
Three and a half years after the pandemic outbreak, now that WHO has formally declared that the emergency is over, COVID-19 is still a significant global issue. Here, we focus on recent developments in genetic...
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Open AccessRare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15–20% of cases ...
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Open AccessIndole-3-carbinol in vitro antiviral activity against SARS-Cov-2 virus and in vivo toxicity
The effects of indole-3-carbinol (I3C) compound have been described deeply as antitumor drug in multiple cancers. Herein, I3C compound was tested for toxicity and antiviral activity against SARS-CoV-2 infectio...
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Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
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Open AccessJ’Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing
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Open AccessCOVID-19 2022 update: transition of the pandemic to the endemic phase
COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics an...
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Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
SARS-CoV-2 infections display tremendous interindividual variability, ranging from asymptomatic infections to life-threatening disease. Inborn errors of, and autoantibodies directed against, type I interferons...
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Open AccessEffects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies
Mechanical unloading in microgravity is thought to induce tissue degeneration by various mechanisms, including the inhibition of regenerative stem cell differentiation. In this work, we investigate the effects...
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Open AccessBreast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso
Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with...
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Open AccessCorrection to: Update on human genetic susceptibility to COVID-19: susceptibility to virus and response
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Open AccessUpdate on human genetic susceptibility to COVID-19: susceptibility to virus and response
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Open AccessThromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia
While vaccination is the single most effective intervention to drastically reduce severe disease and death following SARS-CoV-2 infection, as shown in UK and Israel, some serious concerns have been raised for ...
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Open AccessCOVID-19 one year into the pandemic: from genetics and genomics to therapy, vaccination, and policy
COVID-19 has engulfed the world and it will accompany us all for some time to come. Here, we review the current state at the milestone of 1 year into the pandemic, as declared by the WHO (World Health Organiza...
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Open AccessInhibition of HECT E3 ligases as potential therapy for COVID-19
SARS-CoV-2 is responsible for the ongoing world-wide pandemic which has already taken more than two million lives. Effective treatments are urgently needed. The enzymatic activity of the HECT-E3 ligase family ...
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Open AccessCOVID-19 update: the first 6 months of the pandemic
The COVID-19 pandemic is swee** the world and will feature prominently in all our lives for months and most likely for years to come. We review here the current state 6 months into the declared pandemic. Spe...
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Open AccessImproving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised c...
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Open AccessAnalysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients
Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East respiratory syndrome ( ...
