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Genetics of Tubulopathies
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Genetics of Tubulopathies

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 (30 November 2019) | Viewed by 17354

Special Issue Editors

Prof. Dr. Detlef Bockenhauer

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Guest Editor
1. Department of Renal Medicine, University College London, London WC1E 6BT, UK
2. Renal Unit, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
Interests: inherited kidney diseases; tubulopathies; genetics; precision medicine; renal physiology
Prof. Dr. John Sayer

E-Mail Website
Guest Editor
Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne NE1 7RU, UK
Interests: cystic kidney disease; tubulopathies; ciliopathies; cilia; renal stone disease; end-stage renal failure
Prof. Dr. Rosa Vargas-Poussou

E-Mail Website
Guest Editor
Genetics Department, Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris 92380, France
Interests: tubulopathies; molecular genetics; physiopathology; clinical research; natural course

Special Issue Information

Dear Colleagues,

One of the key tasks of the kidney is homeostasis, the maintenance of the extracellular fluid in which all cells are bathed. Ensuring the proper composition and volume of this “milieu interieur” or internal environment is critical for the function of all cells. Homeostasis is mainly provided by the renal tubules and involves a large number of different transport proteins and regulators. Defects in these tubular transport processes are collectively referred to as tubulopathies. The associated clinical phenotype can vary enormously in severity: from minor abnormalities in urine composition, to kidney stones, hypertension, chronic kidney disease, or life-threatening acid-base and electrolyte abnormalities. Genetic investigations into these rare disorders have clarified the aetiology of most tubulopathies and provided tremendous insights into their underlying pathophysiology.

This Special Issue focuses on the genetics and genomics underlying the diseases of tubulopathy, to better understand the disease causes and mechanisms and to identify and develop better treatments. We are pleased to welcome submissions of reviews, research articles, and short communications focused on the genetics of this disease.

Prof. Detlef Bockenhauer
Prof. John Sayer
Prof. Dr. Rosa Vargas-Poussou
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

  • Tubulopathies
  • Homeostasis
  • Acidosis
  • Alkalosis
  • Electrolyte disorders
  • Blood pressure

Published Papers (3 papers)

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Review

30 pages, 1491 KiB  
Review
Claudins in Renal Physiology and Pathology
by Caroline Prot-Bertoye and Pascal Houillier
Genes 2020, 11(3), 290; https://doi.org/10.3390/genes11030290 - 10 Mar 2020
Cited by 29 | Viewed by 4549
Abstract
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So [...] Read more.
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described. Full article
(This article belongs to the Special Issue Genetics of Tubulopathies)
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22 pages, 340 KiB  
Review
Inherited Renal Tubulopathies—Challenges and Controversies
by Daniela Iancu and Emma Ashton
Genes 2020, 11(3), 277; https://doi.org/10.3390/genes11030277 - 5 Mar 2020
Cited by 7 | Viewed by 2997
Abstract
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic [...] Read more.
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes. Part of these difficulties can be overcome by gathering large patient cohorts and applying high-throughput sequencing techniques combined with experimental work to prove functional impact. This approach has led to the identification of a number of genes but also generated controversies about proper interpretation of variants. In this article, we will highlight these challenges and controversies. Full article
(This article belongs to the Special Issue Genetics of Tubulopathies)
18 pages, 997 KiB  
Review
The Molecular Genetics of Gordon Syndrome
by Holly Mabillard and John A. Sayer
Genes 2019, 10(12), 986; https://doi.org/10.3390/genes10120986 - 29 Nov 2019
Cited by 38 | Viewed by 9300
Abstract
Gordon syndrome is a rare inherited monogenic form of hypertension, which is associated with hyperkalaemia and metabolic acidosis. Since the recognition of this predominantly autosomal dominant condition in the 1960s, the study of families with Gordon syndrome has revealed four genes WNK1, [...] Read more.
Gordon syndrome is a rare inherited monogenic form of hypertension, which is associated with hyperkalaemia and metabolic acidosis. Since the recognition of this predominantly autosomal dominant condition in the 1960s, the study of families with Gordon syndrome has revealed four genes WNK1, WNK4, KLHL3, and CUL3 to be implicated in its pathogenesis after a phenotype–genotype correlation was realised. The encoded proteins Kelch-like 3 and Cullin 3 interact to form a ring-like complex to ubiquitinate WNK-kinase 4, which, in normal circumstances, interacts with the sodium chloride co-symporter (NCC), the epithelial sodium channel (ENaC), and the renal outer medullary potassium channel (ROMK) in an inhibitory manner to maintain normokalaemia and normotension. WNK-kinase 1 has an inhibitory action on WNK-kinase 4. Mutations in WNK1, WNK4, KLHL3, and CUL3 all result in the accumulation of WNK-kinase 4 and subsequent hypertension, hyperkalaemia, and metabolic acidosis. This review explains the clinical aspects, disease mechanisms, and molecular genetics of Gordon syndrome. Full article
(This article belongs to the Special Issue Genetics of Tubulopathies)
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