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The upper urinary system comprises two kidneys and two ureters, which are crucial in filtering blood and forming urine.KidneysLocation and Structure:The kidneys are two bean-shaped organs positioned behind the peritoneum on either side of the spine.Kidneys are between the 12th thoracic (T12) and the 3rd lumbar (L3) vertebrae.The position of the liver causes the right kidney to sit slightly lower than the left.Protective Layers:Each kidney is enveloped in a tough, fibrous membrane called the...
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Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection
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T-Box Genes in the Kidney and Urinary Tract.

A Kispert1

  • 1Institut für Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany.

Current Topics in Developmental Biology
|January 7, 2017
PubMed
Summary
This summary is machine-generated.

Mutations in the TBX18 gene cause congenital kidney and urinary tract anomalies. This T-box transcription factor is crucial for ureter development, impacting kidney and bladder formation.

Keywords:
BladderCloacaDevelopmentExcretory systemPronephrosT-BoxTbxTbx1Tbx18Tbx2Tbx20Tbx3UreterUrinary system

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Area of Science:

  • Developmental Biology
  • Genetics
  • Human Disease

Background:

  • T-box (Tbx) genes are critical transcription factors for vertebrate organogenesis.
  • Mutations in T-box genes are linked to severe organ malformations and human inherited diseases.
  • The excretory system's association with T-box gene dysfunction was previously less understood.

Purpose of the Study:

  • To investigate the role of TBX18 in the development of the excretory system.
  • To review the function of Tbx18 in ureterogenesis.
  • To discuss the broader roles of T-box genes in excretory system development and homeostasis.

Main Methods:

  • Gene expression analysis in mice.
  • Loss-of-function studies in mice.
  • Lineage tracing in mice.

Main Results:

  • Mutations in TBX18 cause congenital anomalies of the kidney and urinary tract (CAKUT).
  • Predominant CAKUT phenotypes include hydroureter and ureteropelvic junction obstruction.
  • Tbx18 is essential for specifying ureteric mesenchyme in the developing kidney, ureter, and bladder.

Conclusions:

  • TBX18 plays a vital role in mammalian ureter development.
  • TBX18 mutations are a cause of human CAKUT.
  • Other T-box genes (Tbx1, Tbx2, Tbx3, Tbx20) also contribute to excretory system development and function.