Associated Papers
The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.
Zawadzki J et al.
Genes, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP et al.
Current Opinion in Nephrology and Hypertension, 2022
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.
Backwell L et al.
Annual Review of Genomics and Human Genetics, 2022
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D et al.
Journal of the American Society of Nephrology : Jasn, 2022
Hereditary kidney diseases associated with hypomagnesemia.
Claverie-Martin F et al.
Kidney Research and Clinical Practice, 2021
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED et al.
American Journal of Physiology. Cell Physiology, 2021
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Jin SC et al.
Nature Medicine, 2020
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Adalat S et al.
Kidney International Reports, 2019
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Renal Mg handling, FXYD2 and the central role of the Na,K-ATPase.
Mayan H et al.
Physiological Reports, 2018
Transcription factor HNF1β regulates expression of the calcium-sensing receptor in the thick ascending limb of the kidney.
Kompatscher A et al.
American Journal of Physiology. Renal Physiology, 2018
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
de Baaij JH et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines.
Gong XM et al.
Biochimica Et Biophysica Acta, 2015
Magnesium in man: implications for health and disease.
de Baaij JH et al.
Physiological Reviews, 2015
Post-transcriptional control of Na,K-ATPase activity and cell growth by a splice variant of FXYD2 protein with modified mRNA.
Sweadner KJ et al.
The Journal of Biological Chemistry, 2011
HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase.
Ferrè S et al.
Biochemical and Biophysical Research Communications, 2011
A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker.
Flamez D et al.
Diabetologia, 2010
New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule.
Glaudemans B et al.
Kidney International, 2010
FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia?
Cairo ER et al.
The Journal of Membrane Biology, 2009
Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+.
Dimke H et al.
Clinical Science (london, England : 1979), 2009
Regulation of magnesium reabsorption in DCT.
Xi Q et al.
Pflugers Archiv : European Journal of Physiology, 2009
Inherited forms of renal hypomagnesemia: an update.
Knoers NV
Pediatric Nephrology (berlin, Germany), 2009
Molecular determinants of magnesium homeostasis: insights from human disease.
Alexander RT et al.
Journal of the American Society of Nephrology : Jasn, 2008
Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel.
Sha Q et al.
American Journal of Physiology. Renal Physiology, 2008
Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia.
Cairo ER et al.
Biochimica Et Biophysica Acta, 2008
The gamma subunit of Na/K-ATPase: an exceptional, small transmembrane protein.
Rivard CJ et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2005
Genetics of hereditary disorders of magnesium homeostasis.
Schlingmann KP et al.
Pediatric Nephrology (berlin, Germany), 2004
Modulation of Na,K-ATPase by the gamma subunit: studies with transfected cells and transmembrane mimetic peptides.
Zouzoulas A et al.
The Journal of Biological Chemistry, 2003
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
Meij IC et al.
Annals of the New York Academy of Sciences, 2003
Recent advances in molecular genetics of hereditary magnesium-losing disorders.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2003
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
Meij IC et al.
Nature Genetics, 2000
Inherited hypomagnesemia.
Meij IC et al.
Advances in Nephrology From the Necker Hospital, 2000
Genetic renal disorders with hypomagnesemia and hypocalciuria.
Knoers NV et al.
Journal of Nephrology, 0
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM et al.
Nefrologia, 0