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Biomedicines
Special Issues
Genetic Research on Kidney Diseases
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Genetic Research on Kidney Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 2725

Special Issue Editors

Prof. Dr. Katarina Vukojević

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Guest Editor
Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2, 21000 Split, Croatia
Interests: kidney development; congenital anomalies of kidney; next-generation sequencing; chronic kidney diseases; precision medicine; diabetic nephropathy
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Natalija Filipović

E-Mail Website
Guest Editor
Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2, 21000 Split, Croatia
Interests: microvascular and macrovascular complications of diabetes; diabetic nephropathy; renal physiology and pathology; gene expression during embryonic and foetal development; kidneys and urinary system
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue “Genetic Research on Kidney Diseases” invites contributions both of original articles and reviews dedicated to improving the knowledge on genetic background of kidney disorders, focusing on topics such as congenital anomalies of kidney, diabetic nephropathy, chronic kidney disease, and end-stage renal disease. Next-generation sequencing has strongly enhanced developments in genetics such as diagnostic potential for patients with kidney genetic disorders that underlie congenital kidneys anomalies, chronic kidney disease, including diabetic nephropathy and end-stage renal disease. Today’s challenges are focused on implementation of these methods in clinical procedures, to improve genetic counseling and management as well to enhance precision medicine opportunities in this field. The aim of this special issue is to provide novel findings and summarize available data on genetic background of kidney disorders in order to improve kidney genetic diagnostics in clinical practice.

Prof. Dr. Katarina Vukojević
Prof. Dr. Natalija Filipović
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. Biomedicines 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

  • kidney
  • next-generation sequencing
  • genome-wide association study
  • kidney development
  • congenital anomalies of kidney
  • chronic kidney diseases
  • precision medicine
  • genetic variants
  • risk variants
  • diabetic nephropathy

Published Papers (2 papers)

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Research

12 pages, 1013 KiB  
Article
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis
by Sara Marcos González, Emilio Rodrigo Calabia, Ignacio Varela, Michal Červienka, Javier Freire Salinas and José Javier Gómez Román
Biomedicines 2023, 11(6), 1764; https://doi.org/10.3390/biomedicines11061764 - 20 Jun 2023
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Abstract
(1) Background: Focal and segmental glomerulosclerosis (FSGS) is a pattern of injury that results from podocyte loss in the setting of a wide variety of injurious mechanisms. These include both acquired and genetic as well as primary and secondary causes, or a combination [...] Read more.
(1) Background: Focal and segmental glomerulosclerosis (FSGS) is a pattern of injury that results from podocyte loss in the setting of a wide variety of injurious mechanisms. These include both acquired and genetic as well as primary and secondary causes, or a combination thereof, without optimal therapy, and a high rate of patients develop end-stage renal disease (ESRD). Genetic studies have helped improve the global understanding of FSGS syndrome; thus, we hypothesize that patients with primary FSGS may have underlying alterations in adhesion molecules or extracellular matrix glycoproteins related to previously unreported mutations that may be studied through next-generation sequencing (NGS). (2) Methods: We developed an NGS panel with 29 genes related to adhesion and extracellular matrix glycoproteins. DNA was extracted from twenty-three FSGS patients diagnosed by renal biopsy; (3) Results: The average number of accumulated variants in FSGS patients was high. We describe the missense variant ITGB3c.1199G>A, which is considered pathogenic; in addition, we discovered the nonsense variant CDH1c.499G>T, which lacks a Reference SNP (rs) Report and is considered likely pathogenic. (4) Conclusions: To the best of our knowledge, this is the first account of a high rate of change in extracellular matrix glycoproteins and adhesion molecules in individuals with adult-onset FSGS. The combined effect of all these variations may result in a genotype that is vulnerable to the pathogenesis of glomerulopathy. Full article
(This article belongs to the Special Issue Genetic Research on Kidney Diseases)
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19 pages, 36121 KiB  
Article
Disturbances in Switching between Canonical and Non-Canonical Wnt Signaling Characterize Developing and Postnatal Kidneys of Dab1−/− (yotari) Mice
by Ilija Perutina, Nela Kelam, Mirko Maglica, Anita Racetin, Marin Ogorevc, Natalija Filipović, Yu Katsuyama, Josip Mišković and Katarina Vukojević
Biomedicines 2023, 11(5), 1321; https://doi.org/10.3390/biomedicines11051321 - 28 Apr 2023
Cited by 1 | Viewed by 1356
Abstract
This study aims to determine the protein expression patterns of acetylated α-tubulin, inversin, dishevelled-1, Wnt5a/b, and β-catenin in developing (E13.5 and E15.5) and early postnatal (P4 and P14) kidneys of Dab1−/− (yotari) mice, their role in regulating the Wnt [...] Read more.
This study aims to determine the protein expression patterns of acetylated α-tubulin, inversin, dishevelled-1, Wnt5a/b, and β-catenin in developing (E13.5 and E15.5) and early postnatal (P4 and P14) kidneys of Dab1−/− (yotari) mice, their role in regulating the Wnt signaling pathway, and the possible relation to congenital anomalies of kidney and urinary tract (CAKUT). The analysis of target protein co-expression, observed in the renal vesicles/immature glomeruli, ampullae/collecting ducts, convoluted tubules, metanephric mesenchyme of developing kidneys, but proximal convoluted tubules, distal convoluted tubules and glomeruli of postnatal kidneys, was performed using double immunofluorescence and semi-quantitative methods. The overall expression of acetylated α-tubulin and inversin during normal kidney development increases with higher expression in yotari mice as the kidney acquires mature morphology. An increase in β-catenin and cytosolic DVL-1 levels, indicating a switch from non-canonical to canonical Wnt signaling, is found in the postnatal kidney of yotari mice. In contrast, healthy mouse kidney expresses inversin and Wnt5a/b in the postnatal period, thus activating non-canonical Wnt signaling. Target protein expression patterns in kidney development and the early postnatal period observed in this study could indicate that switching between canonical and non-canonical Wnt signaling is crucial for normal nephrogenesis, while the defective Dab1 gene product in yotari mice may promote CAKUT due to interfering with this process. Full article
(This article belongs to the Special Issue Genetic Research on Kidney Diseases)
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