RET in human development and oncogenesis

BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology
P EderyS Lyonnet

Abstract

Hirschsprung disease and the multiple endocrine neoplasia type 2 syndromes are hereditary disorders related to the abnormal migration, proliferation or survival of neural crest cells and their derivatives. Hirschsprung disease is a frequent disorder of the enteric nervous system, resulting in intestinal obstruction. The multiple endocrine neoplasia type 2 syndromes predispose to cancers of neural crest derivatives. Both diseases are associated with heterozygous mutations in the RET proto-oncogene. RET encodes a transmembrane receptor tyrosine kinase expressed in neural crest lineages and whose ligand, glial-cell-line-derived neurotrophic factor, has been very recently identified. In vitro expression studies demonstrate that while Hirschsprung disease mutations result in loss of function of the mutant RET tyrosine kinase, multiple endocrine neoplasia type 2 mutations lead to its constitutive activation. Thus, the two 'faces' of RET, gain of function and loss of function, each lead to a different syndrome, respectively: multiple endocrine neoplasia type 2, a cancer syndrome, or Hirschsprung disease, a developmental defect.

References

Nov 1, 1992·Trends in Biochemical Sciences·R Schneider
Nov 1, 1990·American Journal of Medical Genetics·R N Schimke
Apr 1, 1987·Molecular and Cellular Biology·M Takahashi, G M Cooper
May 1, 1995·Human Molecular Genetics·M AngristA Chakravarti
May 1, 1995·Nature Genetics·B PasiniR Bocciardi
Mar 1, 1993·Genes, Chromosomes & Cancer·L M MulliganB A Ponder
Jan 1, 1994·European Journal of Human Genetics : EJHG·L YinS Cywes
Dec 1, 1994·Human Molecular Genetics·L M MulliganA Safar
Feb 15, 1994·Proceedings of the National Academy of Sciences of the United States of America·K M CarlsonH Donis-Keller
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells
Dec 1, 1995·Human Molecular Genetics·T AttiéS Lyonnet
Jun 27, 1996·Nature·P DurbecM Saarma
Jul 4, 1996·Nature·M W MooreA Rosenthal
Jul 4, 1996·Nature·J J TreanorA Rosenthal

❮ Previous
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Citations

Jun 26, 1999·Microscopy Research and Technique·M Saarma, H Sariola
Nov 1, 2013·Pediatric Surgery International·S W Moore
Feb 14, 2002·Trends in Molecular Medicine·Esther ZwickAxel Ullrich
Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·M ZhouA Auerbach
Jun 9, 2000·Annual Review of Physiology·A O HoffR F Gagel
May 20, 1998·Proceedings of the National Academy of Sciences of the United States of America·C PopoviciM J Pébusque
Jun 16, 2001·Journal of Endocrinological Investigation·C A Stratakis
Oct 3, 2002·American Journal of Medical Genetics·Han G BrunnerHans van Bokhoven Hv
Sep 22, 2009·The Journal of Molecular Diagnostics : JMD·Shannon D BarkerLisa V Kalman
Oct 16, 2007·Pigment Cell Research·Lionel Larue, Friedrich Beermann
Jun 22, 2000·Molecular and Cellular Neurosciences·M LindahlM S Airaksinen
Oct 3, 1998·American Journal of Human Genetics·F GoodmanP Scambler
Jun 5, 1999·Molecular and Cellular Neurosciences·M S AiraksinenM Saarma
Nov 7, 2009·Arquivos brasileiros de endocrinologia e metabologia·Elizabete Rosária de MirandaMaria Marta Sarquis Soares
Sep 17, 2004·Acta Oto-laryngologica·Jeong Lim Kim, Hak Hyun Jung
Dec 13, 2016·Reviews in Endocrine & Metabolic Disorders·Constantine A Stratakis
May 26, 2017·Journal of Cellular Biochemistry·Afsane BahramiAmir Avan
Jul 15, 2016·International Journal of Molecular Sciences·Florian SteinerChristian Pirich
Aug 8, 2002·Oncogene·Davy Chun Wai LeeSiu Yuen Chan
Jan 20, 2018·Endocrine-related Cancer·Sara RedaelliLuca Mologni
Sep 30, 2003·The Journal of Biological Chemistry·Svend Kjaer, Carlos F Ibáñez
Feb 14, 2006·Molecular Endocrinology·Aaron CranstonItalia Bongarzone
Feb 6, 1999·International Journal of Cancer. Journal International Du Cancer·A SchmidtF Beermann
Apr 5, 2000·The Journal of Biological Chemistry·D CalifanoV de Franciscis

❮ Previous
Next ❯

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