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10.1126/science.1062844

http://scihub22266oqcxt.onion/10.1126/science.1062844
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11498583!ä!11498583

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suck abstract from ncbi


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pmid11498583      Science 2001 ; 293 (5532): 1107-12
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  • Human hypertension caused by mutations in WNK kinases #MMPMID11498583
  • Wilson FH; Disse-Nicodeme S; Choate KA; Ishikawa K; Nelson-Williams C; Desitter I; Gunel M; Milford DV; Lipkin GW; Achard JM; Feely MP; Dussol B; Berland Y; Unwin RJ; Mayan H; Simon DB; Farfel Z; Jeunemaitre X; Lifton RP
  • Science 2001[Aug]; 293 (5532): 1107-12 PMID11498583show ga
  • Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.
  • |*Mutation[MESH]
  • |Amino Acid Sequence[MESH]
  • |Base Sequence[MESH]
  • |Chromosome Mapping[MESH]
  • |Chromosomes, Human, Pair 12/genetics[MESH]
  • |Chromosomes, Human, Pair 17/genetics[MESH]
  • |Cytoplasm/enzymology[MESH]
  • |Female[MESH]
  • |Gene Expression Regulation, Enzymologic[MESH]
  • |Genetic Linkage[MESH]
  • |Humans[MESH]
  • |Hypertension/enzymology/*genetics/physiopathology[MESH]
  • |Intercellular Junctions/enzymology[MESH]
  • |Intracellular Signaling Peptides and Proteins[MESH]
  • |Introns[MESH]
  • |Kidney Tubules, Collecting/enzymology/ultrastructure[MESH]
  • |Kidney Tubules, Distal/enzymology/ultrastructure[MESH]
  • |Male[MESH]
  • |Membrane Proteins/metabolism[MESH]
  • |Microscopy, Fluorescence[MESH]
  • |Minor Histocompatibility Antigens[MESH]
  • |Molecular Sequence Data[MESH]
  • |Mutation, Missense[MESH]
  • |Pedigree[MESH]
  • |Phosphoproteins/metabolism[MESH]
  • |Protein Serine-Threonine Kinases/chemistry/*genetics/metabolism[MESH]
  • |Pseudohypoaldosteronism/enzymology/*genetics/physiopathology[MESH]
  • |Sequence Deletion[MESH]
  • |Signal Transduction[MESH]
  • |WNK Lysine-Deficient Protein Kinase 1[MESH]


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