Special Issue "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).

Special Issue Editors

Prof. Detlef Bockenhauer
E-Mail Website
Guest Editor
UCL Department of Renal Medicine, London, UK and Renal Unit, Great Ormond Street Hospital for Children, London, UK
Interests: inherited kidney diseases; tubulopathies; genetics; precision medicine; renal physiology
Prof. John Sayer
E-Mail Website
Guest Editor
Newcastle University, 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, 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 papers will be 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 1800 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 (1 paper)

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Review

Open AccessReview
The Molecular Genetics of Gordon Syndrome
Genes 2019, 10(12), 986; https://doi.org/10.3390/genes10120986 - 29 Nov 2019
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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