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Related Concept Videos

The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Rab Cascades01:25

Rab Cascades

Rab GTPases act in a regulated cascade during membrane fusion, helping the lipid bilayers mix. The Rab family of proteins are active when bound to GTP, and inactive when bound to GDP. Hence, they act as guanine nucleotide-dependent molecular switches. Rab-GTP recognizes and binds to long or short-range tethering proteins to capture the target vesicle. These tethers coordinate with SNAREs on the vesicle and the target membrane to assemble the trans SNARE complex that locks the mixing bilayers.
Abnormal Proliferation02:23

Abnormal Proliferation

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 daughter...
MAPK Signaling Cascades01:07

MAPK Signaling Cascades

Mitogen-activated protein kinase, or MAPK pathway, activates three sequential kinases to regulate cellular responses such as proliferation, differentiation, survival, and apoptosis. The canonical MAPK pathway starts with a mitogen or growth factor binding to an RTK. The activated RTKs stimulate Ras, which recruits Raf or MAP3 Kinase (MAPKKK), the first kinase of the MAPK signaling cascade. Raf further phosphorylates and activates MEK or MAP2 Kinases (MAPKK), which in turn phosphorylates MAP...

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Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
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Published on: March 31, 2015

Mosaic RASopathies.

Christian Hafner1, Leopold Groesser

  • 1Department of Dermatology, University of Regensburg, Regensburg, Germany. christian.hafner@ukr.de

Cell Cycle (Georgetown, Tex.)
|December 21, 2012
PubMed
Summary
This summary is machine-generated.

Mosaic RASopathies are distinct congenital syndromes caused by Ras/MAPK pathway mutations. This article explores the genetic and phenotypic characteristics of these conditions, differentiating them from germline RASopathies.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • RASopathies are developmental syndromes linked to germline mutations in the Ras/MAPK signaling pathway.
  • Ras/MAPK pathway mutations can also occur somatically, leading to mosaic conditions.
  • Mosaic RASopathies present distinct clinical features compared to germline forms.

Purpose of the Study:

  • To discuss the genetic underpinnings of mosaic RASopathies.
  • To describe the phenotypic manifestations of mosaic RASopathies.
  • To differentiate mosaic RASopathies from germline RASopathies.

Main Methods:

  • Review of genetic databases and literature.
  • Analysis of clinical case reports.
  • Comparative analysis of germline versus mosaic mutation effects.

Main Results:

  • Mosaic mutations in the Ras/MAPK pathway result in unique congenital syndromes.
  • Specific genetic alterations correlate with distinct phenotypic presentations in mosaic RASopathies.
  • The term "mosaic RASopathies" is proposed for these distinct conditions.

Conclusions:

  • Mosaic RASopathies represent a significant group of developmental disorders.
  • Understanding genetic and phenotypic aspects is crucial for diagnosis and management.
  • Further research is needed to fully elucidate the spectrum of mosaic RASopathies.