RET and NTRK1 proto-oncogenes in human diseases

Luisella Alberti, Cristiana Carniti, Claudia Miranda, Emanuela Roccato, Marco A. Pierotti

Research output: Contribution to journalArticle

103 Citations (Scopus)

Abstract

RET and NTRK1 are receptor tyrosine kinase (RTK) proteins which play a role in the development and maturation of specific component of the nervous system. Their alterations have been associated to several human diseases, including some forms of cancer and developmental abnormalities. These features have contributed to the concept that one gene can be responsible for more than one disease. Moreover, both genes encoding for the two RTKs show genetic alterations that belong to either "gain of function" or "loss of function" class of mutations. In fact, receptor rearrangements or point mutations convert RET and NTRK1 in dominantly acting transforming genes leading to thyroid tumors, whereas inactivating mutations, associated with Hirschsprung's disease (HSCR) and congenital insensitivity to pain with anhidrosis (CIPA), impair RET and NTRK1 functions, respectively. In this review we have summarized the main features of the two receptors, their physiological and pathological roles. In addition, we attempted to identify the correlations between the different genetic alterations and the related pathogenetic mechanisms.

Original languageEnglish
Pages (from-to)168-186
Number of pages19
JournalJournal of Cellular Physiology
Volume195
Issue number2
DOIs
Publication statusPublished - May 1 2003

Fingerprint

Proto-Oncogenes
Hereditary Sensory and Autonomic Neuropathies
trkA Receptor
Hirschsprung Disease
Mutation
Genes
Oncogenes
Point Mutation
Protein-Tyrosine Kinases
Nervous System
Neoplasms
Thyroid Gland
Gene encoding
Neurology
Tumors

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cell Biology
  • Physiology

Cite this

Alberti, L., Carniti, C., Miranda, C., Roccato, E., & Pierotti, M. A. (2003). RET and NTRK1 proto-oncogenes in human diseases. Journal of Cellular Physiology, 195(2), 168-186. https://doi.org/10.1002/jcp.10252

RET and NTRK1 proto-oncogenes in human diseases. / Alberti, Luisella; Carniti, Cristiana; Miranda, Claudia; Roccato, Emanuela; Pierotti, Marco A.

In: Journal of Cellular Physiology, Vol. 195, No. 2, 01.05.2003, p. 168-186.

Research output: Contribution to journalArticle

Alberti, L, Carniti, C, Miranda, C, Roccato, E & Pierotti, MA 2003, 'RET and NTRK1 proto-oncogenes in human diseases', Journal of Cellular Physiology, vol. 195, no. 2, pp. 168-186. https://doi.org/10.1002/jcp.10252
Alberti, Luisella ; Carniti, Cristiana ; Miranda, Claudia ; Roccato, Emanuela ; Pierotti, Marco A. / RET and NTRK1 proto-oncogenes in human diseases. In: Journal of Cellular Physiology. 2003 ; Vol. 195, No. 2. pp. 168-186.
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