Associated Papers
Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Tian M et al.
Frontiers in Medicine, 2022
Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel.
Ponzoni L et al.
Plos Computational Biology, 2020
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 2010
Structural and functional analysis of the putative pH sensor in the Kir1.1 (ROMK) potassium channel.
Rapedius M et al.
Embo Reports, 2006
Hereditary polyuric disorders: new concepts and differential diagnosis.
Bichet DG
Seminars in Nephrology, 2006
Molecular biology of hereditary diabetes insipidus.
Fujiwara TM et al.
Journal of the American Society of Nephrology : Jasn, 2005
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.
Peters M et al.
Kidney International, 2003
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