PMID: 7906417Feb 15, 1994Paper

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

Proceedings of the National Academy of Sciences of the United States of America
K M CarlsonH Donis-Keller


Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de novo disease. Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals. This sequence difference was not observed in 93 unaffected individuals, including the normal parents of 14 de novo MEN 2B patients. The mutation (ATG-->ACG) results in the replacement of methionine with threonine within the catalytic core region of the tyrosine kinase domain. We propose that this amino acid replacement effects substrate interactions and results in dominant oncogenic activity by the RET protein. Missense mutations in the extracellular ligand-binding domain of the RET protooncogene previously have been associated with two other disorders [MEN 2A and familial MTC (FMTC)] in which MTC is observed. MEN 2B represents the third form of heritable MTC known to be an allele of RET. Alterations in two different functional domains of the putative receptor prote...Continue Reading


Sep 1, 1992·Neuron·J Schlessinger, A Ullrich
May 1, 1992·PCR Methods and Applications·A K SrivastavaJ Kere
Mar 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·M A PierottiA Fusco
Apr 1, 1990·Japanese Journal of Cancer Research : Gann·M NagaoT Sugimura
Apr 30, 1990·Biochemical and Biophysical Research Communications·Y IshizakaM Nagao
Jun 30, 1988·Biochemical and Biophysical Research Communications·T TahiraM Nagao
Jan 1, 1984·Annual Review of Genetics·S H Orkin, H H Kazazian
Jun 18, 1993·Cell·J A Cooper, B Howell
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells
Jun 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·D R KnightonG N Gill

❮ Previous
Next ❯


Jul 6, 2000·The Journal of Pathology·R R de KrijgerP Komminoth
May 1, 1997·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·P EderyS Lyonnet
Mar 1, 1995·Genes, Chromosomes & Cancer·C EngM J Lorenzo
Feb 19, 2000·Biochemical and Biophysical Research Communications·T IwashitaM Takahashi
Jun 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·F CanzianI Ceccherini
Jan 1, 1997·Pediatric Surgery International·G Martucciello
Jan 1, 1997·Pediatric Surgery International·T Kusafuka, P Puri
Jan 1, 1995·Endocrine Pathology·Paul KomminothPhilipp U. Heitz
Apr 1, 1996·Endocrine Pathology·Iris WundrackNikolaus Blin
Dec 30, 1998·Irish Journal of Medical Science·D A O'KeeffeN J O'Higgins
Dec 6, 2005·Der Chirurg; Zeitschrift für alle Gebiete der operativen Medizen·A Frilling, F Weber
Feb 7, 2007·Der Pathologe·G MartuccielloU Magrini
Jul 26, 2006·Wiener klinische Wochenschrift·Damijan BergantSimon Caserman
Oct 13, 2006·Pituitary·Yoshiki MurakumoMasahide Takahashi
Oct 1, 1995·Trends in Endocrinology and Metabolism : TEM·D L LearoydB G Robinson
Feb 15, 2005·Clinics in Dermatology·Brian SomoanoHensin Tsao
Oct 22, 2003·Molecular Genetics and Metabolism·Cheryl E Gariepy
Jul 1, 1997·The American Journal of Medicine·H M HeshmatiG W Sizemore
Feb 27, 2003·Archives of Medical Research·Beatriz GonzálezBrian Dawson
Mar 12, 2004·Cancer Letters·Masatoshi IchiharaMasahide Takahashi
Jan 13, 1998·Biochimica Et Biophysica Acta·K S Kolibaba, B J Druker
Jul 11, 2001·Endocrinology and Metabolism Clinics of North America·E Puxeddu, J A Fagin
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·G J CoteR F Gagel
Nov 16, 2002·Current Opinion in Genetics & Development·Wen Hsiung LiKateryna Makova
May 18, 2001·Surgical Oncology·N C Lee, J A Norton
Aug 30, 2003·Surgical Oncology·Michael A Skinner
Aug 10, 2002·Journal of the American College of Surgeons·Samuel W BeenkenKirby I Bland
Sep 7, 2001·Cytokine & Growth Factor Reviews·M Takahashi
Jun 3, 2009·Nature Reviews. Genetics·Norman Arnheim, Peter Calabrese
Sep 29, 1994·The New England Journal of Medicine·R D Utiger
Sep 16, 2005·The New England Journal of Medicine·Michael A SkinnerSamuel A Wells
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·D CalifanoV de Franciscis
Dec 20, 2002·Thyroid : Official Journal of the American Thyroid Association·Salud BorregoGuillermo Antiñolo
Apr 1, 1996·Thyroid : Official Journal of the American Thyroid Association·S M JhiangE L Mazzaferri
Dec 14, 2004·Thyroid : Official Journal of the American Thyroid Association·Yun Jae ChungJae Hoon Chung
Jul 21, 2005·Thyroid : Official Journal of the American Thyroid Association·Maria A KouvarakiDouglas B Evans
Mar 31, 2006·Thyroid : Official Journal of the American Thyroid Association·S DvorákováB Bendlová
Jul 15, 2006·Thyroid : Official Journal of the American Thyroid Association·Gill SpyerBijay Vaidya
May 28, 2009·Thyroid : Official Journal of the American Thyroid Association·UNKNOWN American Thyroid Association Guidelines Task ForceSamuel A Wells
Feb 12, 2011·Thyroid : Official Journal of the American Thyroid Association·Ehsan AlvandiMehrdad Pedram

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Signaling by Tyrosine Kinases

Receptor tyrosine kinases (RTKs) are the high-affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. RTKs have been shown not only to be key regulators of normal cellular processes but also to have a critical role in the development and progression of many types of cancer. Discover the latest research on cell signaling and RTK here.

Autoimmune Polyendocrine Syndromes

This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.