(Q28249400)

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Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

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Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response (English)

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nephrogenic diabetes insipidus

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based on heuristic

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author name string

M C Canfield

1

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B K Tamarappoo

2

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A M Moses

3

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A S Verkman

4

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E J Holtzman

5

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language of work or name

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publication date

October 1997

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Human Molecular Genetics

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6

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11

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1865-71

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Evidence that ADH-stimulated intramembrane particle aggregates are transferred from cytoplasmic to luminal membranes in toad bladder epithelial cells

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Membrane structural specialization of the toad urinary bladder revealed by the freeze-fracture technique. III. Location, structure and vasopressin dependence of intramembrane particle arrays

1 reference

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Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

1 reference

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Molecular biology of diabetes insipidus

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X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis

1 reference

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Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

1 reference

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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

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Pathophysiology of the aquaporin water channels

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Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein

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Distribution of the aquaporin CHIP in secretory and resorptive epithelia and capillary endothelia

1 reference

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Cloning and expression of apical membrane water channel of rat kidney collecting tubule.

1 reference

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Immunolocalization of the mercurial-insensitive water channel and glycerol intrinsic protein in epithelial cell plasma membranes

1 reference

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Molecular cloning of the receptor for human antidiuretic hormone

1 reference

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Structure of aquaporin-2 vasopressin water channel.

1 reference

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Marked hypotonic polyuria resulting from nephrogenic diabetes insipidus with partial sensitivity to vasopressin.

1 reference

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The aquaporin family of molecular water channels

1 reference

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A point mutation at cysteine 189 blocks the water permeability of rat kidney water channel CHIP28k

1 reference

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Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

1 reference

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ER degradation of a misfolded luminal protein by the cytosolic ubiquitin-proteasome pathway

1 reference

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21 January 2018

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