Jeroen de Baaij

Butyrate reduces cellular magnesium absorption independently of metabolic regulation in Caco-2 human colon cells

3 Nov 202210 Jan 2023

Digestion of dietary fibers by gut bacteria has been shown to stimulate intestinal mineral absorption [e.g., calcium (Ca2+) and magnesium (Mg2+)]. Although it has been suggested that local pH and…

Publications

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

27 Oct 20229 Jan 2023

Background - Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which encodes the Na+-Cl− cotransporter (NCC). In…

Publications

SLC41A1 knockout mice display normal magnesium homeostasis

19 Oct 20229 Jan 2023

Transcellular Mg2+ reabsorption in the distal convoluted tubule (DCT) of the kidneys plays an important role in maintaining systemic Mg2+ homeostasis. SLC41A1 is a Na+/Mg2+ exchanger that mediates Mg2+ efflux from cells and is…

News

PhD Degree for Gijs Franken

5 Oct 20229 Jul 2024

Gijs Franken successfully defended his thesis entitled 'On the origin and function of renal magnesium transport'. Outline of this thesis Magnesium is an important mineral that plays a crucial role in many…

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Jeroen de Baaij receives ENW-M grant to study the role of magnesium in cell metabolism

13 Sep 20229 Jul 2024

Jeroen de Baaij received an ENW-M grant of 350.000 euros to study the role of magnesium in cell metabolism. The grant allows his team study the basics of energy homeostasis in the cell…

Publications

The genetic spectrum of Gitelman(-like) syndromes

1 Sep 202210 Jan 2023

Purpose of review Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene,…

Publications

Magnesium increases insulin-dependent glucose uptake in adipocytes

25 Aug 202210 Jan 2023

Background: Type 2 diabetes (T2D) is characterized by a decreased insulin sensitivity. Magnesium (Mg2+) deficiency is common in people with T2D. However, the molecular consequences of low Mg2+ levels on insulin sensitivity…

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ENW-XS Grant for Pieter Leermakers

21 Jul 20229 Jan 2023

Two researchers from the Radboudumc receive a grant from the NWO within the Open Competition of the Exact and Natural Sciences. Pieter Leermakers, who studies the kidneys will receive an…

Publications

Structural and functional comparison of magnesium transporters throughout evolution

12 Jul 202210 Jan 2023

Magnesium (Mg2+) is the most prevalent divalent intracellular cation. As co-factor in many enzymatic reactions, Mg2+ is essential for protein synthesis, energy production, and DNA stability. Disturbances in intracellular Mg2+ concentrations, therefore,…

Publications

Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification

7 Jul 202210 Jan 2023

Introduction Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic…

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Vidi Grant for Jeroen de Baaij

1 Jul 20229 Jan 2023

Radboudumc researchers Jeroen de Baaij and Felix Hol both receive an NWO Vidi grant for their research, respectively on magnesium deficiency in type 2 diabetes and on malaria. The kidney…

Publications

FAM111A is dispensable for electrolyte homeostasis in mice

17 Jun 202210 Jan 2023

Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have…

Publications

Mechanisms of proton pump inhibitor-induced hypomagnesemia

2 Jun 202210 Jan 2023

Proton pump inhibitors (PPIs) reliably suppress gastric acid secretion and are therefore the first-line treatment for gastric acid-related disorders. Hypomagnesemia (serum magnesium [Mg2+] <0.7 mmol/L) is a commonly reported side effect of…

Publications

Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters

13 May 202210 Jan 2023

Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor essential for the development and function of the kidney. Mutations in and deletions of HNF1β cause autosomal dominant tubule interstitial kidney…

Publications

The association between hypomagnesemia and poor glycaemic control in type 1 diabetes is limited to insulin resistant individuals

19 Apr 202210 Jan 2023

In a cohort of adults with type 1 diabetes, we examined the prevalence of hypomagnesemia and the correlation of serum magnesium levels with metabolic determinants, such as glycaemic control (as…