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Pathogenetic Mechanism of Hereditary Anemia
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Pathogenetic Mechanism of Hereditary Anemia

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (28 February 2021) | Viewed by 8625

Special Issue Editors

Dr. Roberta Russo

E-Mail Website
Guest Editor
1. Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples, 80136 Napoli, Italy
2. CEINGE, Biotecnologie Avanzate, 80145 Napoli, Italy
Interests: congenital dyserythropoietic anemias; erythropoiesis; abnormal erythropoiesis; hereditary anemias; molecular genetics; genomics of hereditary anemias
Special Issues, Collections and Topics in MDPI journals
Dr. Immacolata Andolfo

E-Mail Website
Guest Editor
Dip. di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy
Interests: red blood cell membrane defects; iron metabolism; molecular genetics; hereditary anemias; cell signaling; pathophysiologic mechanisms of hereditary anemias; dehydrated hereditary stomatocytosis; PIEZO1
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Anemia affects 1.6 billion people worldwide, about 10% of these individuals are affected by rare anemias of which 80% are hereditary. Hereditary anemias embrace a wide and heterogeneous group of disorders with high clinical and genetic heterogeneity. In recent years, major progress in the understanding of the genetic basis and pathophysiology of hereditary anemias have been achieved. Nevertheless, the pathophysiology of most of the hereditary anemias is poorly understood and, in addition, the responsible gene has not yet been identified for all of them.

This Special Issue on “Molecular Genetics and Pathophysiology of Hereditary Anemias” will include a selection of original papers and reviews focused on genetics and genomics, as well as cellular and molecular mechanisms of red blood cell physiology and pathology. The special issue will focus on hereditary anemias, in particular red blood cell membrane structural defects, red blood cell membrane transport defects, defects of erythropoiesis, enzyme defects, anemias related to iron metabolism defects; diagnostic approaches, epigenetics, functional genomics, genome editing, generation of cellular and animal models for red blood cell diseases, gene expression profiling of erythroid cells, and description of new pathophysiologic mechanisms.

Dr. Roberta Russo
Dr. Immacolata Andolfo
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • Hereditary anemias
  • Genetics of hereditary anemias
  • Functional genomics
  • Next-generation sequencing
  • Red blood cell membrane structural defects
  • Red blood cell membrane transport defects
  • Erythropoiesis
  • Abnormal erythropoiesis
  • Pathophysiologic mechanisms
  • Iron metabolism regulation
  • Pathophysiology of iron metabolism
  • Cell signaling
  • Genome editing

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Published Papers (2 papers)

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13 pages, 1643 KiB  
Article
Orphan Nuclear Receptor ERRγ Is a Transcriptional Regulator of CB1 Receptor-Mediated TFR2 Gene Expression in Hepatocytes
by Bo-Eun Kim, Byungyoon Choi, Woo-Ram Park, Yu-Ji Kim, In-Young Kim, Yoon Seok Jung, Yong-Hoon Kim, Chul-Ho Lee, Hueng-Sik Choi and Don-Kyu Kim
Int. J. Mol. Sci. 2021, 22(11), 6021; https://doi.org/10.3390/ijms22116021 - 2 Jun 2021
Cited by 2 | Viewed by 3110
Abstract
Orphan nuclear receptor estrogen-related receptor γ (ERRγ) is an important transcription factor modulating gene transcription involved in endocrine control of liver metabolism. Transferrin receptor 2 (TFR2), a carrier protein for transferrin, is involved in hepatic iron overload in alcoholic liver disease (ALD). However, [...] Read more.
Orphan nuclear receptor estrogen-related receptor γ (ERRγ) is an important transcription factor modulating gene transcription involved in endocrine control of liver metabolism. Transferrin receptor 2 (TFR2), a carrier protein for transferrin, is involved in hepatic iron overload in alcoholic liver disease (ALD). However, TFR2 gene transcriptional regulation in hepatocytes remains largely unknown. In this study, we described a detailed molecular mechanism of hepatic TFR2 gene expression involving ERRγ in response to an endocannabinoid 2-arachidonoylglycerol (2-AG). Treatment with 2-AG and arachidonyl-2′-chloroethylamide, a selective cannabinoid receptor type 1 (CB1) receptor agonist, increased ERRγ and TFR2 expression in hepatocytes. Overexpression of ERRγ was sufficient to induce TFR2 expression in both human and mouse hepatocytes. In addition, ERRγ knockdown significantly decreased 2-AG or alcohol-mediated TFR2 gene expression in cultured hepatocytes and mouse livers. Finally, deletion and mutation analysis of the TFR2 gene promoter demonstrated that ERRγ directly modulated TFR2 gene transcription via binding to an ERR-response element. This was further confirmed by chromatin immunoprecipitation assay. Taken together, these results reveal a previously unrecognized role of ERRγ in the transcriptional regulation of TFR2 gene expression in response to alcohol. Full article
(This article belongs to the Special Issue Pathogenetic Mechanism of Hereditary Anemia)
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13 pages, 345 KiB  
Review
Pathomechanisms of Immunological Disturbances in β-Thalassemia
by Anna Gluba-Brzózka, Beata Franczyk, Magdalena Rysz-Górzyńska, Robert Rokicki, Małgorzata Koziarska-Rościszewska and Jacek Rysz
Int. J. Mol. Sci. 2021, 22(18), 9677; https://doi.org/10.3390/ijms22189677 - 7 Sep 2021
Cited by 23 | Viewed by 4556
Abstract
Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis. Patients with β-thalassemia display variable clinical severity which ranges from asymptomatic features to severe transfusion-dependent anemia and [...] Read more.
Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis. Patients with β-thalassemia display variable clinical severity which ranges from asymptomatic features to severe transfusion-dependent anemia and complications in multiple organs. They not only are at increased risk of blood-borne infections resulting from multiple transfusions, but they also show enhanced susceptibility to infections as a consequence of coexistent immune deficiency. Enhanced susceptibility to infections in β-thalassemia patients is associated with the interplay of several complex biological processes. β-thalassemia-related abnormalities of the innate immune system include decreased levels of complement, properdin, and lysozyme, reduced absorption and phagocytic ability of polymorphonuclear neutrophils, disturbed chemotaxis, and altered intracellular metabolism processes. According to available literature data, immunological abnormalities observed in patients with thalassemia can be caused by both the disease itself as well as therapies. The most important factors promoting such alterations involve iron overload, phenotypical and functional abnormalities of immune system cells resulting from chronic inflammation oxidative stress, multiple blood transfusion, iron chelation therapy, and splenectomy. Unravelling the mechanisms underlying immune deficiency in β-thalassemia patients may enable the designing of appropriate therapies for this group of patients. Full article
(This article belongs to the Special Issue Pathogenetic Mechanism of Hereditary Anemia)
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