Associated Papers
Post-translational modifications in tumor-associated carbonic anhydrases.
Di Fiore A et al.
Amino Acids, 2022
Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia.
Han M et al.
Frontiers in Pediatrics, 2022
Carbonic anhydrase 12 mutation modulates membrane stability and volume regulation of aquaporin 5.
Hwang S et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2019
Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency.
Avital D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M et al.
Human Molecular Genetics, 2016
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.
Hong JH et al.
The Journal of Physiology, 2015
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.
Feinstein Y et al.
Hormone Research in Paediatrics, 2014
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Muhammad E et al.
Human Genetics, 2011
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
Feldshtein M et al.
American Journal of Human Genetics, 2010
Select a paper to view details