Search Results - "Franken, C. A. A"
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CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells
Published in PLoS biology (20-12-2021)“…Magnesium is essential for cellular life, but how it is homeostatically controlled still remains poorly understood. Here, we report that members of CNNM…”
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Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type
Published in Scientific reports (10-07-2024)“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish…”
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Published in Scientific reports (22-03-2024)“…Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to…”
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SLC41A1 knockout mice display normal magnesium homeostasis
Published in American journal of physiology. Renal physiology (01-11-2022)“…Transcellular Mg reabsorption in the distal convoluted tubule (DCT) of the kidneys plays an important role in maintaining systemic Mg homeostasis. SLC41A1 is a…”
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Safety and efficacy of stenting for aortic arch hypoplasia in patients with coarctation of the aorta
Published in Netherlands heart journal (01-03-2020)“…Background Despite a successful repair procedure for coarctation of the aorta (CoA), up to two-thirds of patients remain hypertensive. CoA is often seen in…”
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Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects
Published in Scientific reports (15-04-2021)“…Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is…”
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Structural and functional comparison of magnesium transporters throughout evolution
Published in Cellular and molecular life sciences : CMLS (01-08-2022)“…Magnesium (Mg 2+ ) is the most prevalent divalent intracellular cation. As co-factor in many enzymatic reactions, Mg 2+ is essential for protein synthesis,…”
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Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney
Published in Acta Physiologica (01-02-2021)“…Hypomagnesaemia is a common feature of renal Na+ wasting disorders such as Gitelman and EAST/SeSAME syndrome. These genetic defects specifically affect Na+…”
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Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies
Published in American journal of physiology. Renal physiology (01-05-2024)“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes…”
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Phenotypic quantification of Nphs1-deficient mice
Published in Journal of nephrology (14-07-2024)“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of…”
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ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs
Published in Cellular and molecular life sciences : CMLS (01-07-2021)“…Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg 2+ ) homeostasis. Using various biochemical approaches, we have identified members of the…”
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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
Published in Human mutation (01-04-2021)“…Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited…”
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Correction to: Phenotypic quantification of Nphs1‑deficient mice
Published in Journal of nephrology (08-08-2024)Get full text
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14
Genome mining and functional genomics for siderophore production in Aspergillus niger
Published in Briefings in functional genomics (01-11-2014)“…Iron is an essential metal for many organisms, but the biologically relevant form of iron is scarce because of rapid oxidation resulting in low solubility…”
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Integrated lithium niobate photonic computing circuit based on efficient and high-speed electro-optic conversion
Published 04-11-2024“…Here we show a photonic computing accelerator utilizing a system-level thin-film lithium niobate circuit which overcomes this limitation. Leveraging the strong…”
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Hybrid integrated near UV lasers using the deep-UV Al2O3 platform
Published 22-02-2023“…Hybrid integrated diode lasers have so far been realized using silicon, polymer, and silicon nitride (Si3N4) waveguide platforms for extending on-chip tunable…”
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A Primer of Old Testament Archaeology
Published in Vetus Testamentum (01-10-1963)Get full text
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A Primer of Old Testament Archaeology
Published in Journal of Biblical Literature (01-03-1964)Get full text
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A Primer of Old Testament Archaeology
Published in Zeitschrift des Deutschen Palästina-Vereins (01-01-1963)Get full text
Book Review