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A Molecular Perspective on the Genetics of Kidney Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 July 2024 | Viewed by 918

Special Issue Editors


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Guest Editor
NOVA Medical School—Faculdade de Ciências Médicas, Universidade de Lisboa, Lisboa, Portugal
Interests: inherited kidney diseases; disorders of transepithelial transport; kidney inflammation; dysmetabolism; phenotype evaluation (clinical); human molecular genetics (sequencing and/or genotyping)

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Guest Editor
Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Interests: cancer mechanisms; epigenetics; ncRNAs; CYP450; renal genetic diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Unravelling the genetic and genomic basis of kidney diseases has not only fostered our ability to personalize kidney medicine, with a particular focus in the genetic diagnosis of inherited kidney disorders, but has also set up the groundwork for a molecular characterization of the pathogenesis of both rare inherited phenotypes as well common diseases and traits in which heritability plays a role. With the current call, the Editorial Board aims to collect examples of how research in genetics and genomics has leveraged precision kidney care. We hope that the authors, with their unique expertise in the field, will embrace the challenge and contribute to the current issue’s success.

Dr. Joaquim Calado
Prof. Dr. José Rueff
Guest Editors

Manuscript Submission Information

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Keywords

  • kidney
  • genetics
  • solute transport
  • genomics
  • inflammation
  • dysmetabolism

Published Papers (1 paper)

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Research

14 pages, 9051 KiB  
Article
Carbonic Anhydrase 2 Deletion Delays the Growth of Kidney Cysts Whereas Foxi1 Deletion Completely Abrogates Cystogenesis in TSC
by Sharon Barone, Kamyar Zahedi, Marybeth Brooks and Manoocher Soleimani
Int. J. Mol. Sci. 2024, 25(9), 4772; https://doi.org/10.3390/ijms25094772 - 27 Apr 2024
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Abstract
Tuberous sclerosis complex (TSC) presents with renal cysts and benign tumors, which eventually lead to kidney failure. The factors promoting kidney cyst formation in TSC are poorly understood. Inactivation of carbonic anhydrase 2 (Car2) significantly reduced, whereas, deletion of Foxi1 completely abrogated [...] Read more.
Tuberous sclerosis complex (TSC) presents with renal cysts and benign tumors, which eventually lead to kidney failure. The factors promoting kidney cyst formation in TSC are poorly understood. Inactivation of carbonic anhydrase 2 (Car2) significantly reduced, whereas, deletion of Foxi1 completely abrogated the cyst burden in Tsc1 KO mice. In these studies, we contrasted the ontogeny of cyst burden in Tsc1/Car2 dKO mice vs. Tsc1/Foxi1 dKO mice. Compared to Tsc1 KO, the Tsc1/Car2 dKO mice showed few small cysts at 47 days of age. However, by 110 days, the kidneys showed frequent and large cysts with overwhelming numbers of A-intercalated cells in their linings. The magnitude of cyst burden in Tsc1/Car2 dKO mice correlated with the expression levels of Foxi1 and was proportional to mTORC1 activation. This is in stark contrast to Tsc1/Foxi1 dKO mice, which showed a remarkable absence of kidney cysts at both 47 and 110 days of age. RNA-seq data pointed to profound upregulation of Foxi1 and kidney-collecting duct-specific H+-ATPase subunits in 110-day-old Tsc1/Car2 dKO mice. We conclude that Car2 inactivation temporarily decreases the kidney cyst burden in Tsc1 KO mice but the cysts increase with advancing age, along with enhanced Foxi1 expression. Full article
(This article belongs to the Special Issue A Molecular Perspective on the Genetics of Kidney Diseases)
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