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References

These sources were used to develop the Genetics Home Reference gene summary on the KCNJ1 gene.

Derst C, Konrad M, Köckerling A, Károlyi L, Deschenes G, Daut J, Karschin A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun. 1997 Jan 23;230(3):641-5. PubMed citation
Entrez Gene
Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int. 2001 May;59(5):1803-11. PubMed citation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008 May;40(5):592-9. doi: 10.1038/ng.118. Epub 2008 Apr 6. PubMed citation
Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003 Sep;64(3):923-32. PubMed citation
Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996 Oct;14(2):152-6. PubMed citation
Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension. 2008 Jun;51(6):1658-64. doi: 10.1161/HYPERTENSIONAHA.108.112664. Epub 2008 Apr 28. PubMed citation
Welling PA, Ho K. A comprehensive guide to the ROMK potassium channel: form and function in health and disease. Am J Physiol Renal Physiol. 2009 Oct;297(4):F849-63. doi: 10.1152/ajprenal.00181.2009. Epub 2009 May 20. Review. PubMed citation


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