Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
Nature. 2012 482 (7383): 98-102

PMID: 22266938 · PMCID: PMC3278668 · DOI:10.1038/nature10814

MeSH Terms (30)

Adaptor Proteins, Signal Transducing Amino Acid Sequence Animals Base Sequence Blood Pressure Carrier Proteins Cohort Studies Cullin Proteins Electrolytes Exons Female Gene Expression Profiling Genes, Dominant Genes, Recessive Genotype Homeostasis Humans Hydrogen-Ion Concentration Hypertension Male Mice Microfilament Proteins Models, Molecular Molecular Sequence Data Mutation Phenotype Potassium Pseudohypoaldosteronism Sodium Chloride Water-Electrolyte Imbalance

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