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Serena Barozzi

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Articles

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene

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By Antonio Marzollo, Serena Barozzi, Muhammad Yousaf, Stefania Zampieri
| Wiley Online Library Verified
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description bjh19567-sup-0001-DataS1.docxWord 2007 document , 61.9 KB Data S1. REFERENCES 1, . Inherited thrombocytopenias: an updated guide for clinicians. Blood Rev. 2021; 48:100784. https://doi.org/10.1016/j.blre.2020.100784 2, . Cytochrome C -mediated apoptosis. Annu Rev Biochem. 2004; 73(1): 87–106. https://doi.org/10.1146/annurev.biochem.73.011303.073706 3, , , , , , et al.
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ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype

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By Melania Eva Zanchetta, Federica Isidori, Caterina Marconi, Serena Barozzi
| Wiley Online Library Verified
INTRODUCTION Inherited thrombocytopenia (IT) is a heterogeneous group of disorders characterized by reduced platelet count that may associate with additional clinical manifestations.1 More than 40 genes have so far been described as implicated in IT.2 Among these, mutation in α-actinin-1 (ACTN1) gene, encoding for a conserved and ubiquitous F-actin binding and cross-linking protein (α-actinin), causes a non-syndromic platelet disorder known as ACTN1-related thrombocytopenia (ACTN1-RT; Online...
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