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From Genetic to Molecular Basis of Kidney Diseases
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From Genetic to Molecular Basis of Kidney Diseases

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 (25 August 2025) | Viewed by 7073

Special Issue Editor

Dr. Mariadelina Simeoni

E-Mail Website
Guest Editor
Nephrology and Dialysis Unit, Department of Translation Medical Sciences, University of Campania “LuigiVanvitelli”, 80131 Naples, Italy
Interests: chronic renal failure; molecular biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Kidney diseases are complex and require a translational research approach to be fully understood. As we delve deeper into the underlying mechanisms, we are on the verge of significant breakthroughs in diagnosis, treatment, and prevention. This Special Issue explores the latest research on the molecular and genetic aspects of kidney diseases, providing new insights and innovative approaches to address these health challenges.

From discovering new genetic mutations to understanding the molecular pathways that drive kidney diseases onset and progression, the articles in this Issue will highlight the remarkable progress being made in nephrology. By bridging the gap between basic science and clinical practice, we aim to foster a comprehensive understanding of kidney diseases that will lead to personalized medicine and targeted therapies.

We invite original papers, reviews, meta-analyses, and case series covering all aspects of chronic kidney disease (CKD), acute kidney injury (AKI), glomerulonephritis, rare renal diseases, and onconephrological implications in a translational manner for this exciting Special Issue.

Dr. Mariadelina Simeoni
Guest Editor

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

  • renal rare diseases
  • chronic kidney disease (CKD)
  • acute kidney injury (AKI)
  • glomerulonephritis
  • onconephrology
  • inherited glomerulopathies and tubulopathies
  • cardio-nephrology syndromes
  • neuro-nephrology syndromes
  • endocrine nephrology syndromes
  • Kidney transplantation 
  • Hemodialysis
  • Peritoneal dialysis

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Published Papers (3 papers)

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Research

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12 pages, 1258 KB  
Article
APOL1-Risk Genotype Induces Inflammatory and Hypoxic Gene Expression in Donor Kidneys
by Meghan Unes, Sree Kolli, Shaurya Mehta, Chandrashekhara Manithody, Jonathan Bruno, Krista L. Lentine, Ajay Jain, Mustafa Nazzal and Yasar Caliskan
Genes 2025, 16(9), 1078; https://doi.org/10.3390/genes16091078 - 15 Sep 2025
Viewed by 722
Abstract
Background/Objectives: APOL1 renal-risk variants (RRVs) are of increasing relevance to kidney disease and transplant outcomes. It is currently understood that the presence of RRVs in donors negatively impacts kidney allograft survival in an autosomal recessive pattern of inheritance. Less well known is the [...] Read more.
Background/Objectives: APOL1 renal-risk variants (RRVs) are of increasing relevance to kidney disease and transplant outcomes. It is currently understood that the presence of RRVs in donors negatively impacts kidney allograft survival in an autosomal recessive pattern of inheritance. Less well known is the interplay between ischemia and alternative allograft preservation methods, such as normothermic machine perfusion (NMP), on APOL1 gene expression. To investigate this, we examined the effects of APOL1 RRVs on APOL1 gene expression in ischemic donor kidneys and compared the differences in cytokine and APOL1 expression patterns between the alternative preservation methods, static cold storage (CS) and NMP. Methods: Non-utilized deceased donor kidney pairs from donors of African ancestry were procured from Mid-America Transplant after being deemed unsuitable for kidney transplant. Samples were collected from each donor kidney pair and DNA was extracted for APOL1 genotyping. APOL1 RRVs G1 (rs73885319) (rs60910145) and G2 (rs71785313) were identified by Sanger sequencing. From each pair, one kidney underwent 6 h NMP (n = 3) and the contralateral kidney 6 h of CS (n = 3) following the initial CS. Renal perfusion and biochemical, and histologic parameters were recorded. NMP was directly compared with CS using paired donor kidneys using NMP with allogeneic red blood cells, followed by assessment of perfusion, biochemical, and histologic parameters, in addition to gene expression. Results: Donor genotyping identified kidney pairs as heterozygous for the G1 RRV (G1/G0), homozygous for the G0 allele (G0/G0), and homozygous for the G2 RRV (G2/G2), respectively. All kidneys were successfully reperfused, with mRNA transcript levels of APOL1-related genes subsequently measured. Significant differences in APOL1 gene expression were observed among all three groups of kidneys. In paired kidneys from baseline to hour 6 of NMP, mRNA expression varied significantly between G1/G0 and G2/G2 homozygous pairs (p = 0.002) as well as between the G0/G0 and G2/G2 pairs (p = 0.002). APOL1 expression shifted by a significantly higher-fold change of 2.4 under NMP conditions in the G2/G2 genotype (p < 0.001). The inflammatory cytokine marker IFN-γ was also significantly upregulated in the G2/G2 genotype kidney, in both CS and NMP groups (p = 0.001). Other related genes such as KIM-1 were upregulated by a change of 3.9-fold in the NMP group for the G2/G2 kidney. Conclusion: Donor kidney pairs with the high-risk APOL1 genotype, especially G2/G2, show increased APOL1 expression and inflammation, particularly under NMP conditions. NMP enables detection of genotype-specific molecular changes in an ischemic reperfusion injury model, supporting its potential to improve donor kidney assessment before transplantation. Full article
(This article belongs to the Special Issue From Genetic to Molecular Basis of Kidney Diseases)
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Review

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11 pages, 1286 KB  
Review
Toxoplasma Gondii Replication During Belatacept Treatment in Kidney Transplantation: A Case Report and a Review of the Literature
by Raffaella Vigilante, Raafiah Izhar, Rossella Di Paola, Ananya De, Rosa Maria Pollastro, Giovanna Capolongo, Giulio Viceconte and Mariadelina Simeoni
Genes 2025, 16(4), 391; https://doi.org/10.3390/genes16040391 - 29 Mar 2025
Cited by 3 | Viewed by 1182
Abstract
Belatacept is a chimeric protein that acts as a selective blocker of T-lymphocyte co-stimulation. It has been proposed for the prevention of kidney transplant rejection. This paper reports a literature review on pharmacological characteristics of belatacept and genetic factors influencing its efficacy and [...] Read more.
Belatacept is a chimeric protein that acts as a selective blocker of T-lymphocyte co-stimulation. It has been proposed for the prevention of kidney transplant rejection. This paper reports a literature review on pharmacological characteristics of belatacept and genetic factors influencing its efficacy and safety profile. A severe case of neurotoxoplasmosis observed in a kidney transplant recipient (KTR) treated with belatacept is also described. It appears that the interference of belatacept on guanylate binding proteins (GBPs) expression in antigen-presenting cells (APC) cytoplasm could be involved in Toxoplasma gondii (Toxo-g) reactivation in seropositive KTRs. Additionally, genetic variations in immune regulatory genes encoding CTLA-4 and Blimp-1 may influence individual susceptibility to infection and immune modulation under belatacept therapy. In conclusion, we highlight the importance of drug avoidance and/or increased surveillance in Toxo-g IgG-positive KTR. We also retain that further studies on the host defense pathways involved in the surveillance of opportunistic pathogens in KTR are strongly desirable. Full article
(This article belongs to the Special Issue From Genetic to Molecular Basis of Kidney Diseases)
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35 pages, 768 KB  
Review
Congenital Anomalies of the Kidney and Urinary Tract in Down Syndrome: Prevalence, Phenotypes, Genetics and Clinical Management
by Mirela Leskur, Dario Leskur, Sandra Marijan, Luka Minarik and Bernarda Lozić
Genes 2025, 16(3), 245; https://doi.org/10.3390/genes16030245 - 20 Feb 2025
Viewed by 4848
Abstract
Down syndrome (DS), the most common survivable autosomal aneuploidy, is associated with a high prevalence of congenital anomalies of the kidney and urinary tract (CAKUT), significantly increasing the risk of chronic kidney disease (CKD). This review examines the diversity of CAKUT phenotypes reported [...] Read more.
Down syndrome (DS), the most common survivable autosomal aneuploidy, is associated with a high prevalence of congenital anomalies of the kidney and urinary tract (CAKUT), significantly increasing the risk of chronic kidney disease (CKD). This review examines the diversity of CAKUT phenotypes reported in individuals with DS, focusing on anomalies affecting the kidney, ureter, bladder, and urethra. According to available literature, hydronephrosis is the most common renal anomaly, often secondary to other CAKUT phenotypes, followed by renal hypoplasia and glomerulocystic disease. Furthermore, obstructive uropathies are also frequent but usually lack detailed characterization in the literature. Key features of CAKUT in DS, including reduced kidney size, renal cystic diseases, acquired glomerulopathies, reduced nephron number, and immature glomeruli heighten the risk of CKD. Also, early detection of lower urinary tract dysfunction (LUTD) is critical to prevent progressive upper urinary tract damage and CKD. Despite the prevalence of CAKUT in DS, reported between 0.22% and 21.16%, there is a lack of standardized diagnostic criteria, consistent terminology, and extended follow-up studies. Systematic screening from infancy, including regular renal monitoring via urinalysis and ultrasound, plays a critical role in the timely diagnosis and intervention of CAKUT. To further enhance diagnostic accuracy and develop effective therapeutic strategies, increased awareness and focused research into the genetic factors underlying these anomalies are essential. Moreover, a multidisciplinary approach is indispensable for managing CAKUT and its associated complications, ultimately ensuring better long-term outcomes and an improved quality of life for individuals with DS. Full article
(This article belongs to the Special Issue From Genetic to Molecular Basis of Kidney Diseases)
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