Author: Iekuni Ichikawa

0000000000467476

AUTHOR

Iekuni Ichikawa

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Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

1999

Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ont…

MaleUrologic Diseasesmedicine.medical_specialtyRNA SplicingUrinary systemApoptosisIn situ hybridizationBiologyKidneyMesodermMiceUreterInternal medicinemedicineAnimalsHumansRNA MessengerUrinary TractReceptorMolecular BiologyGeneIn Situ HybridizationMice KnockoutKidneyReceptors AngiotensinIntronSequence Analysis DNACell BiologyPhenotypePedigreePhenotypemedicine.anatomical_structureEndocrinologyMutationKidney DiseasesPolymorphism Restriction Fragment LengthMolecular Cell

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