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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.
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Arteriovenous malformation associated with a HRAS mutation.

Dennis J Konczyk1, Jeremy A Goss1, Patrick J Smits1

  • 1Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

Human Genetics
|October 23, 2019
PubMed
Summary

A rare HRAS gene mutation was discovered in a patient with a facial arteriovenous malformation (AVM). This finding suggests HRAS mutations can contribute to AVM development, expanding our understanding of vascular malformations.

Area of Science:

  • Genetics
  • Vascular Biology
  • Dermatology

Background:

  • Extracranial arteriovenous malformations (AVMs) are typically linked to somatic mutations in the MAP2K1 gene.
  • Understanding the genetic basis of AVMs is crucial for developing targeted therapies.

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