Publications Genome-wide association study of serum magnesium in type 2 diabetes 22 Jan 20249 Jul 2024 Oost LJ, Slieker RC, Blom MT, 't Hart LM, Hoenderop JGJ, Beulens JWJ, de Baaij JHF. Genes Nutr. 2024 Jan 26;19(1):2. Abstract People with type 2 diabetes have a tenfold higher…
Publications Oral magnesium supplementation does not affect insulin sensitivity in people with insulin-treated type 2 diabetes and a low serum magnesium: a randomised controlled trial 3 Nov 20239 Jul 2024 Drenthen LCA, de Baaij JHF, Rodwell L, van Herwaarden AE, Tack CJ, de Galan BE. Diabetologia. 2024 Jan;67(1):52-61 Abstract Aims/hypothesis: Hypomagnesaemia has been associated with insulin resistance and an increased risk of…
Publications Cleft palate and minor metabolic disturbances in a mouse global Arl15 gene knockout 1 Nov 20239 Jul 2024 Bai Y, Bentley L, Ma C, Naveenan N, Cleak J, Wu Y, Simon MM, Westerberg H, Cañas RC, Horner N, Pandey R, Paphiti K, Schulze U, Mianné J, Hough T,…
Publications Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review 5 Oct 20239 Jul 2024 Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF. J Am Soc Nephrol. 2023 Nov 1;34(11):1875-1888. Abstract Background: Electrolyte reabsorption in the kidney has a high energy demand. Proximal and…
Publications Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome 14 Mar 20239 Jul 2024 Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B,…
Publications Magnesium reabsorption in the kidney 17 Feb 20239 Jul 2024 de Baaij JHF Am J Physiol Renal Physiol. 2023 Mar 1;324(3):F227-F244. Abstract Mg2+ is essential for many cellular and physiological processes, including muscle contraction, neuronal activity, and metabolism. Consequently, the blood…
Publications Transcription factor HNF1β controls a transcriptional network regulating kidney cell structure and tight junction integrity 22 Dec 20229 Jan 2023 Mutations in the HNF1B gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD)-HNF1β, a rare and heterogenous disease characterized by renal cysts and/or malformation, maturity-onset diabetes of the young, hypomagnesemia and…
Publications HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression 15 Dec 202210 Jan 2023 Mutations or deletions in transcription factor hepatocyte nuclear factor 1 homeobox β (HNF1β) cause renal cysts and/or malformation, maturity-onset diabetes of the young and electrolyte disturbances. Here, we applied a…
Publications Hypomagnesemia and Cardiovascular Risk in Type 2 Diabetes 8 Nov 20229 Jan 2023 Hypomagnesemia is tenfold more common in individuals with type 2 diabetes (T2D), compared to the healthy population. Factors that are involved in this high prevalence are low Mg2+ intake, gut…
Publications Calciprotein Particle Synthesis Strategy Determines In Vitro Calcification Potential 4 Nov 202210 Jan 2023 Circulating calciprotein particles (CPP), colloids of calcium, phosphate and proteins, were identified as potential drivers of the calcification process in chronic kidney disease. The present study compared CPP produced using…
Publications 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…
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…