Integrating Metabolic And Genetic Electrolyte disturbances in THE KIDNEY (IMAGE-the-KIDNEY)

Titel: This collection contains the data for the study "hypomagnesemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants", which was published as part of a thesis and in Scientific Reports (PMID: 38519529). Variants in t
Link: https://data.ru.nl/collections/ru/rumc/cnnm2_t0000130a_dsc_858

Titel: Autosomal dominant tubulointerstitial kidney disease-subtype hepatocyte nuclear factor 1ß (ADTKD-HNF1ß) is caused by pathogenic variants in or deletions of the gene encoding transcription factor HNF1ß. Patients with the same mutation have variable renal a
Link: https://www.ebi.ac.uk/pride/archive/projects/PXD050720

Titel: This collection contains the raw data for "RRAGD variants cause cardiac dysfunction in a zebrafish model" which was published in AJP Heart and Circulatory Physiology in 2024, and a chapter in a PhD thesis. The raw data are in excel formats or as image fil
Link: https://data.ru.nl/collections/ru/rumc/rragd_t0000081a_dsc_714

Titel: Novel causes of hypomagnesemia
Auteur: JHF de Baaij

Titel: Novel genetic causes of hypomagnesemia
Auteur: JHF de Baaij

Titel: Calciprotein Particles (CPPs) Are Cleared Predominantly by Liver, Spleen, and Bone in a Rat Model of CKD: SA-PO249
Auteur: JHF de Baaij

Titel: Genomic Organization and Regulation of Gene Expression in the Distal Convoluted Tubule: FR-PO560
Auteur: JHF De Baaij

Titel: Renal Section Mid-career Achievement Award Lecture
Auteur: JHF de Baaij

Titel: Magnesium in health and disease
Auteur: JHF de Baaij

Titel: A Novel State-of-the-Art Intravital Microscopy Technique to Track Magnesium in Living Kidneys: FR-PO559
Auteur: PA Leermakers, JHF de Baaij

Titel: Novel Genetic Causes of Hypomagnesemia
Auteur: JHF de Baaij
Link: https://mcusercontent.com/8d4a1e2b2122750a032d9cae7/files/50a646ce-e6fe-6fd0-e350-65e7dad5126b/low_def_FINAL_PROGRAM_amp_ABSTRACTS_IMS_2024_compressed_3.pdf

Titel: Facilitation of Mg2+ Extrusion by the Murine Distal Convoluted Tubule-Specific Isoform of SLC41A3: TH-OR62
Auteur: Gijs AC Franken, Willem Bosman, Hyun Jun Jung, Caro Bos, Femke Latta, René J Bindels, Mark A Knepper, Joost Hoenderop, Jeroen HF De Baaij

Titel: Magnesium reabsorption in the kidney
Auteur: JHF de Baaij
Magazine: Am J Physiol Renal Physiol .
Link: https://journals.physiology.org/doi/full/10.1152/ajprenal.00298.2022

Titel: Magnesium biology
Auteur: Kröse JL, de Baaij JHF.
Magazine: Nephrol Dial Transplant
Link: https://academic.oup.com/ndt/article/39/12/1965/7693129

Titel: RRAGD variants cause cardiac dysfunction in a zebrafish model
Auteur: Adella A, Tengku F, Arjona FJ, Broekman S, de Vrieze E, van Wijk E, Hoenderop JGJ, de Baaij JHF.
Magazine: Am J Physiol Heart Circ Physiol
Link: https://journals.physiology.org/doi/epdf/10.1152/ajpheart.00705.2023

Titel: Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
Auteur: Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JGJ, de Baaij JHF.
Magazine: Clin Kidney J
Link: https://academic.oup.com/ckj/article/17/8/sfae211/7708369

Titel: Characterization of intestine-specific TRPM6 knockout C57BL/6 J mice: effects of short-term omeprazole treatment
Auteur: Adella A, Gommers LMM, Bos C, Leermakers PA, de Baaij JHF, Hoenderop JGJ.
Magazine: Pflugers Arch
Link: https://link.springer.com/article/10.1007/s00424-024-03017-9

Titel: Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Auteur: Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ.
Magazine: Sci Rep
Link: https://www.nature.com/articles/s41598-024-57061-7

Titel: Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review
Auteur: Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF.
Magazine: J Am Soc Nephrol.
Link: https://journals.lww.com/jasn/fulltext/2023/11000/electrolyte_disorders_in_mitochondrial.11.aspx

Titel: A distal convoluted tubule-specific isoform of murine SLC41A3 extrudes magnesium.
Auteur: Franken GAC, Bosman W, Jung HJ, Bos C, Latta F, Knepper M, Hoenderop JGJ, de Baaij JHF.
Magazine: Acta Physiol (Oxf)
Link: https://onlinelibrary.wiley.com/doi/epdf/10.1111/apha.70018

Titel: Proteomic analysis of urinary extracellular vesicles from patients with ADTKD-HNF1ß identifies roles for cilia-related proteins and serpins.
Auteur: Kahlman EJEM, van Heugten MH, Tholen LE, Verploegen MFA, Spruijt CG, Jansen PWTC, Vermeulen M, Hoenderop JGJ, Hoorn EJ, Nijenhuis T, de Baaij JHF.
Magazine: Am J Physiol Renal Physiol
Begin- en eindpagina: 530-541
Link: https://journals.physiology.org/doi/full/10.1152/ajprenal.00167.2024

Titel: Mitochondrial Dysfunction in Kidney Tubulopathies
Auteur: Hoogstraten CA, Hoenderop JG, de Baaij JHF.
Magazine: Annu Rev Physiol.
Link: https://www.annualreviews.org/deliver/fulltext/physiol/86/1/annurev-physiol-042222-025000.pdf

Titel: ERA Rosanna Gusmano Award for Young Investigators in basic science 2024
Link: https://www.era-online.org/about-us/governance/era-awards/past-era-awardees/

Titel: Renal Section Mid-career Achievement Award
Link: https://www.physiology.org/meetings-awards/awards/researchers/renal-mid-career

Link: https://www.kidneyphysiology.com