Blog
About

1
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: not found
      • Article: not found

      Mammalian Distal Tubule: Physiology, Pathophysiology, and Molecular Anatomy

      1 , 1

      Physiological Reviews

      American Physiological Society

      Read this article at

      ScienceOpenPublisher
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Related collections

          Most cited references 130

          • Record: found
          • Abstract: found
          • Article: not found

          Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

          Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic acidosis, and unresponsiveness to mineralocorticoid hormones. Investigation of affected offspring of consanguineous union reveals mutations in either the alpha or beta subunits of the amiloride-sensitive epithelial sodium channel in five kindreds. These mutations are homozygous in affected subjects, co-segregate with the disease, and introduce frameshift, premature termination or missense mutations that result in loss of channel activity. These findings demonstrate the molecular basis and explain the pathophysiology of this disease.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            The skeletal muscle chloride channel in dominant and recessive human myotonia.

            Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (CLC-1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor beta (TCRB) locus. Tight linkage of these two loci to GM and MC was found in German families. An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8. This suggests that different mutations in CLC-1 may cause dominant or recessive myotonia.
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.

                Bookmark

                Author and article information

                Journal
                Physiological Reviews
                Physiological Reviews
                American Physiological Society
                0031-9333
                1522-1210
                January 2000
                January 2000
                : 80
                : 1
                : 277-313
                Affiliations
                [1 ]Department of Medicine, University of Colorado School of Medicine and Department of Veterans Affairs Medical Center, Denver, Colorado
                Article
                10.1152/physrev.2000.80.1.277
                © 2000

                Comments

                Comment on this article