Genotype–phenotype correlation in Gordon’s syndrome: report of two cases carrying novel heterozygous mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-021-01083-1.pdf
Reference15 articles.
1. Mabillard H, Sayer JA (2019) The molecular genetics of Gordon syndrome. Genes (Basel). https://doi.org/10.3390/genes10120986
2. Hadchouel J, Delaloy C, Fauré S et al (2006) Familial hyperkalemic hypertension. J Am Soc Nephrol 17:208–217. https://doi.org/10.1681/ASN.2005030314
3. Toka HR, Koshy JM, Hariri A (2013) The molecular basis of blood pressure variation. Pediatr Nephrol 28:387–399. https://doi.org/10.1007/s00467-012-2206-9
4. Shi X, Xiang S, Cao J et al (2019) Kelch-like proteins: physiological functions and relationships with diseases. Pharmacol Res 148:104404. https://doi.org/10.1016/j.phrs.2019.104404
5. Ohta A, Schumacher F-R, Mehellou Y et al (2013) The CUL3-KLHL3 E3 ligase complex mutated in Gordon’s hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J 451:111–122. https://doi.org/10.1042/BJ20121903
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2. Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension;International Journal of Hypertension;2023-05-09
3. Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study;Frontiers in Pediatrics;2023-01-16
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