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Related Concept Videos

Catenins01:23

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Catenins are characterized by multiple binding domains and dynamic structures that allow them to function as linker proteins in cell junction complexes. All catenins, except α-catenin, contain a characteristic protein sequence called the armadillo repeat and are therefore also called armadillo proteins.
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
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Related Experiment Video

Updated: Dec 21, 2025

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
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The Role of PTEN in Neurodevelopment.

Patrick D Skelton1, Radu V Stan2, Bryan W Luikart1

  • 1Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.

Molecular Neuropsychiatry
|May 14, 2020
PubMed
Summary

Mutations in PTEN (phosphatase and tensin homolog) are strongly linked to autism spectrum disorder (ASD). This review covers PTEN

Keywords:
ASDAutismAutism spectrum disorderEpilepsyPTENSynapse

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • PTEN (phosphatase and tensin homolog) is a critical regulator of cell growth, survival, and signaling pathways.
  • Mutations in the PTEN gene are a significant genetic factor associated with autism spectrum disorder (ASD).

Purpose of the Study:

  • To review the current evidence linking PTEN mutations to ASD.
  • To explore the utility of mouse models in understanding PTEN's role in neurodevelopment.
  • To detail the cellular phenotypes in neurons resulting from PTEN loss.

Main Methods:

  • Literature review of studies on PTEN mutations and ASD.
  • Analysis of findings from PTEN-related mouse models of neurodevelopmental disorders.
  • Examination of cellular and molecular data on PTEN function in neurons.

Main Results:

  • PTEN mutations are highly penetrant for ASD, indicating a strong causal link.
  • PTEN plays a crucial role in multiple stages of neuronal development, including proliferation, migration, and survival.
  • Loss of PTEN function in neurons leads to observable changes in morphology and synaptic plasticity.

Conclusions:

  • PTEN is a key molecular player in the etiology of ASD.
  • Understanding PTEN's function in neurodevelopment provides insights into ASD pathogenesis.
  • Further research into PTEN pathways may reveal therapeutic targets for ASD.