Search results for " nephrogenic diabetes insipidus"

showing 2 items of 2 documents

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.

2000

Vasopressin V2 receptor mutants from three different patients with congenital nephrogenic diabetes insipidus phenotypes were investigated after expression in COS cells. The amino acid exchanges within the human V2 receptor are located in the second extracellular loop (T204N, Y205C and V206D). Confocal microscopy showed that all receptor mutants were strongly expressed but mainly located within the cell. Residual binding capacity for the antidiuretic hormone arginine vasopressin (AVP) could only be detected for the T204N mutant and was 10-fold lower than for the wild-type receptor. Stimulation of transfected cells with 1 microM AVP showed that the T204N mutant was able to activate the adenyl…

Receptors Vasopressinmedicine.medical_specialtyVasopressinVasopressinsDiabetes Insipidus NephrogenicBiologyTransfectionBiochemistryCell LineEndocrinologyInternal medicineArginine vasopressin receptor 2medicineHumansReceptorMolecular BiologyVasopressin receptorArginine vasopressin receptor 1BElucidation of the molecular defect responsible for congenital nephrogenic diabetes insipidus (NDI)Nephrogenic diabetes insipidusmedicine.diseaseEndocrinologyMutationOpheldering van het moleculaire defect dat verantwoordelijk is voor congenitale nefrogene diabetes insipidus (NDI)cAMP-dependent pathwayhormones hormone substitutes and hormone antagonistsSignal TransductionAntidiuretic
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The AQP2 mutation V71M causesnephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog

2015

Graphical abstract

wt wild-typeGpA glycophorin AHM half-membrane-spanningurogenital systemQH301-705.5AquaporinNephrogenic diabetes insipidusAQP ER endoplasmic reticulumGlpF glycerol facilitatorActivityProtein oligomerizationResearch articleNDI nephrogenic diabetes insipidusAVP arginine vasopressinGlpF500 Natural sciences and mathematicsAQP aquaporin500 NaturwissenschaftenBiology (General)AVPR2 V2 receptorComputingMethodologies_COMPUTERGRAPHICSTM transmembraneFEBS Open Bio
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