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Genes
Special Issues
Inherited Blood Disorders: From Molecular Mechanisms to Diagnostic Tools
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Inherited Blood Disorders: From Molecular Mechanisms to Diagnostic Tools

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (5 March 2025) | Viewed by 1469

Special Issue Editors

Dr. Behnaz Pezeshkpoor

E-Mail Website
Guest Editor
Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, 53127 Bonn, Germany
Interests: hemophilia; inherited blood disorders
Dr. Lawrence E. Goldfinger

E-Mail Website
Guest Editor
Department Of Medicine, Division of Hematology, Cardeza Foundation for Hematologic Research, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
Interests: molecular cell biology; platelet; microRNAs; hemostasis and thrombosis; thromboinflammation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hemostasis is a complex and tightly regulated system that attempts to maintain a homeostatic balance to permit normal blood flow, without bleeding or thrombosis. Hemostasis reflects the subtle balance between procoagulant and anticoagulant factors in the pathways of primary hemostasis, secondary hemostasis, and fibrinolysis. Advances in both molecular genetic analysis and laboratory tests for the diagnosis of blood disorders facilitate both the management and treatment of patients.

We invite submissions to this Special Issue which focus on inherited bleeding disorders. From unraveling molecular intricacies to advancing diagnostic methodologies, this Special Issue aims to explore the comprehensive landscape of these conditions. Whether the paper delves into pathogenic mechanisms or discusses innovative diagnostic approaches, we welcome contributions which shed light on various aspects of inherited blood disorders. Join us in unraveling the complexities and exploring the advances in diagnosis and understanding in this crucial field.

Dr. Behnaz Pezeshkpoor
Dr. Lawrence E. Goldfinger
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics
  • inherited platelet disorders
  • coagulation factor deficiencies
  • genetics
  • diagnostic tests for congenital bleeding disorders
  • management of congenital bleeding disorders
  • pathogenic mechanisms
  • thrombosis

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Published Papers (1 paper)

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8 pages, 803 KiB  
Brief Report
Roles of miR-223 in Platelet Function and High On-Treatment Platelet Reactivity: A Brief Report and Review
by Shayan Askari and Lawrence E. Goldfinger
Genes 2025, 16(3), 312; https://doi.org/10.3390/genes16030312 - 6 Mar 2025
Viewed by 843
Abstract
Background: Platelets are highly enriched in microRNAs (miRNAs), which are genomically encoded 19–25 nucleotide non-coding RNAs that target complementary mRNAs through total or near-total base pairing. MiR-223 is among the most abundant miRNAs in human and murine platelets, but despite ongoing investigations in [...] Read more.
Background: Platelets are highly enriched in microRNAs (miRNAs), which are genomically encoded 19–25 nucleotide non-coding RNAs that target complementary mRNAs through total or near-total base pairing. MiR-223 is among the most abundant miRNAs in human and murine platelets, but despite ongoing investigations in recent years, miR-223 roles in platelet physiology and its putative roles in high on-treatment platelet reactivity (HTPR) remain controversial, as studies showed varying findings. Objectives: In the current hybrid review/report, we aim to compare studies that investigated miR-223 in platelet function and HTPR. Additionally, we briefly report our own findings on murine miR-223-deficient platelets. Methods: We have thoroughly searched the literature and found three studies that investigated the roles of miR-223 in platelet function by utilizing miR-223 global knockout mice, and three studies that explored the association between miR-223 and residual platelet reactivity by measuring miR-223 levels in platelets of patients treated with clopidogrel for cardiac artery disease. We assessed platelet function in response to different agonists and evaluated P2y12 levels in male and female miR-223-deficient platelets. Results: Integrin activation and α granule secretion were similar between WT and KO platelets in response to all agonists in platelets from both female and male mice, although both genotypes showed elevated thrombin response in females compared to males. Conclusions: In all studies, including ours, taken together, miR-233 appears to play a modest role in platelet function and development of HTPR. Full article
(This article belongs to the Special Issue Inherited Blood Disorders: From Molecular Mechanisms to Diagnostic Tools)
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