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[Cowden disease].

Publication ,  Journal Article
Sawada, T; Hamano, N; Suzuki, A; Okada, T; Mabuchi, H
Published in: Nihon Rinsho
July 2000

Cowden disease is an autosomal dominant disorder associated with an increased risk of developing benign and malignant tumors in many organ systems including the breast, thyroid, skin, central nervous system and gastrointestinal tract. Recently, germline mutations in PTEN (also known as MMAC1/TEP1) have been identified on chromosome 10q23 in Cowden disease patients. This gene is suggested to be a tumor suppressor gene, because coding-region mutations are observed in several tumor specimens or tumor cell lines. PTEN functions as a dual specificity phosphatase and lipid phosphatase. PTEN appears to negatively control the phosphoinositide 3-kinase signaling pathway for regulation of cell growth and survival. Furthermore, PTEN may also inhibit cell migration, spreading, and focal adhesion by interacting with the focal adhesion kinase.

Duke Scholars

Published In

Nihon Rinsho

ISSN

0047-1852

Publication Date

July 2000

Volume

58

Issue

7

Start / End Page

1479 / 1483

Location

Japan

Related Subject Headings

  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • Humans
  • Hamartoma Syndrome, Multiple
  • Germ-Line Mutation
  • Genes, Tumor Suppressor
  • Genes, Dominant
  • Chromosomes, Human, Pair 10
  • Cell Physiological Phenomena
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Sawada, T., Hamano, N., Suzuki, A., Okada, T., & Mabuchi, H. (2000). [Cowden disease]. Nihon Rinsho, 58(7), 1479–1483.

Published In

Nihon Rinsho

ISSN

0047-1852

Publication Date

July 2000

Volume

58

Issue

7

Start / End Page

1479 / 1483

Location

Japan

Related Subject Headings

  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • Humans
  • Hamartoma Syndrome, Multiple
  • Germ-Line Mutation
  • Genes, Tumor Suppressor
  • Genes, Dominant
  • Chromosomes, Human, Pair 10
  • Cell Physiological Phenomena