0000000000467470

AUTHOR

John W. Brock

showing 2 related works from this author

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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Angiotensin type 2 receptor is important in the normal development of the ureter

1999

In humans, the actions of angiotensin II are transduced through the AT1 and AT2 receptors which have recently been implicated in renal organogenesis. Polymorphisms in the human angiotensin II receptor genes have been linked to cardiovascular and nephrological disorders. In this study we evaluated 35 patients with either primary obstructive megaureter or posterior urethral valves. Each was genotyped for the A1166 AT1 polymorphism and the recently described A-1332G AT2 transition. The incidence of these genetic variants was also evaluated in normal controls without any ultrasonographic urological abnormalities. Similar to our previous findings in congenital urological abnormalities, the AT1 r…

AdultMaleNephrologymedicine.medical_specialtyAngiotensin receptorAdolescentGenotypeMegaureterUrologyReceptor Angiotensin Type 2Receptor Angiotensin Type 1White PeopleGene FrequencyUrethraInternal medicineUrethral DiseasesmedicineHumansChildReceptorReceptors AngiotensinAngiotensin II receptor type 1business.industryCase-control studyInfantmedicine.diseaseAngiotensin IIEndocrinologyNephrologyChild PreschoolPediatrics Perinatology and Child HealthGene polymorphismUreterbusinesshormones hormone substitutes and hormone antagonistsUreteral ObstructionPediatric Nephrology
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