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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.

Publication ,  Journal Article
Nishimura, H; Yerkes, E; Hohenfellner, K; Miyazaki, Y; Ma, J; Hunley, TE; Yoshida, H; Ichiki, T; Threadgill, D; Phillips, JA; Hogan, BM ...
Published in: Mol Cell
January 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 ontogenic events, from the ureteral budding to the expansive growth of the kidney and ureter.

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Published In

Mol Cell

DOI

ISSN

1097-2765

Publication Date

January 1999

Volume

3

Issue

1

Start / End Page

1 / 10

Location

United States

Related Subject Headings

  • Urologic Diseases
  • Urinary Tract
  • Sequence Analysis, DNA
  • Receptors, Angiotensin
  • RNA, Messenger
  • RNA Splicing
  • Polymorphism, Restriction Fragment Length
  • Phenotype
  • Pedigree
  • Mutation
 

Citation

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Nishimura, H., Yerkes, E., Hohenfellner, K., Miyazaki, Y., Ma, J., Hunley, T. E., … Ichikawa, I. (1999). Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell, 3(1), 1–10. https://doi.org/10.1016/s1097-2765(00)80169-0
Nishimura, H., E. Yerkes, K. Hohenfellner, Y. Miyazaki, J. Ma, T. E. Hunley, H. Yoshida, et al. “Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.Mol Cell 3, no. 1 (January 1999): 1–10. https://doi.org/10.1016/s1097-2765(00)80169-0.
Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, et al. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell. 1999 Jan;3(1):1–10.
Nishimura, H., et al. “Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.Mol Cell, vol. 3, no. 1, Jan. 1999, pp. 1–10. Pubmed, doi:10.1016/s1097-2765(00)80169-0.
Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA, Hogan BM, Fogo A, Brock JW, Inagami T, Ichikawa I. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell. 1999 Jan;3(1):1–10.
Journal cover image

Published In

Mol Cell

DOI

ISSN

1097-2765

Publication Date

January 1999

Volume

3

Issue

1

Start / End Page

1 / 10

Location

United States

Related Subject Headings

  • Urologic Diseases
  • Urinary Tract
  • Sequence Analysis, DNA
  • Receptors, Angiotensin
  • RNA, Messenger
  • RNA Splicing
  • Polymorphism, Restriction Fragment Length
  • Phenotype
  • Pedigree
  • Mutation