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Developmental psychology explores the changes and continuities in human abilities throughout life, encompassing physical, cognitive, linguistic, and social dimensions. Human development is not restricted to growth, but includes aspects of decline, particularly in physical abilities as individuals age. Developmental psychologists seek to understand how people change as they age and how their mental and social skills evolve.Developmental MilestonesA key concept in developmental psychology is...
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Rab23 and developmental disorders.

Catherine H H Hor1,2, Bor Luen Tang3,4, Eyleen L K Goh1,2,5,6

  • 1Neuroscience Academic Clinical Programme, Duke-NUS Medical School, 8 College Road, Singapore 169857, Singapore.

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Summary
This summary is machine-generated.

Rab23, a small GTPase, is crucial for mammalian development and linked to Carpenter's syndrome. It regulates Sonic hedgehog signaling and membrane trafficking, impacting embryonic development and ciliopathies.

Keywords:
Carpenter syndromeRab23Sonic hedgehogciliogenesisprimary cilia

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Area of Science:

  • Molecular Biology
  • Developmental Biology
  • Genetics

Background:

  • Rab23 is a small GTPase regulating membrane trafficking.
  • Mutations in Rab23 cause embryonic lethality in mice and Carpenter's syndrome in humans.
  • Rab23 is implicated in Sonic hedgehog (Shh) signaling and oncogenesis.

Purpose of the Study:

  • To review the developmental roles of Rab23.
  • To connect Rab23's cellular functions to its roles in development.
  • To explore Rab23's involvement in Shh signaling, ciliopathies, and left-right patterning.

Main Methods:

  • Literature review of studies on Rab23.
  • Analysis of genetic mutations and their phenotypic consequences.
  • Integration of findings on Rab23's cellular and developmental functions.

Main Results:

  • Rab23 mutations lead to severe developmental defects, including open neural tubes in mice and Carpenter's syndrome in humans.
  • Rab23 antagonizes Shh signaling and is involved in protein transport to primary cilia.
  • Rab23 plays a role in left-right patterning independent of Shh and cilia.

Conclusions:

  • Rab23 is essential for mammalian development, with critical roles in Shh signaling, ciliogenesis, and embryonic patterning.
  • Dysregulation of Rab23 underlies developmental disorders like Carpenter's syndrome.
  • Understanding Rab23's multifaceted functions provides insights into ciliopathies and developmental abnormalities.