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Molecular and Cellular Biology Volume 18, 1998 - Issue 6
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Cell Growth and Development

Mutations in the Extracellular Domain Cause RET Loss of Function by a Dominant Negative Mechanism

Maria Pia Cosmaa Dipartimento di Biochimica e Biotecnologie Mediche and Centro di Ingegneria Genetica, CEINGE
,
Monica Cardonea Dipartimento di Biochimica e Biotecnologie Mediche and Centro di Ingegneria Genetica, CEINGE
,
Francesca Carlomagnob Centro di Endocrinologia e Oncologia Sperimentale del CNR, Dipartimento di Biologia e Patologia Cellulare e Molecolare, Facoltà di Medicina e Chirurgia, Università di Napoli “Federico II”, Naples
&
Vittorio Colantuonia Dipartimento di Biochimica e Biotecnologie Mediche and Centro di Ingegneria Genetica, CEINGE;c Facoltà di Farmacia, Università di Reggio Calabria, Catanzaro, ItalyCorrespondence[email protected]
Pages 3321-3329 | Received 26 Feb 1998, Accepted 19 Mar 1998, Published online: 28 Mar 2023

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Francesca Lantieri, Paola Griseri & Isabella Ceccherini. (2006) Molecular mechanisms of RET‐induced Hirschsprung pathogenesis. Annals of Medicine 38:1, pages 11-19.
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Mayumi Jijiwa, Toshifumi Fukuda, Kumi Kawai, Akari Nakamura, Kei Kurokawa, Yoshiki Murakumo, Masatoshi Ichihara & Masahide Takahashi. (2004) A Targeting Mutation of Tyrosine 1062 in Ret Causes a Marked Decrease of Enteric Neurons and Renal Hypoplasia. Molecular and Cellular Biology 24:18, pages 8026-8036.
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Luisa Barzon, Monia Pacenti, Marco Boscaro & Giorgio Palù. (2004) Gene therapy for thyroid cancer. Expert Opinion on Biological Therapy 4:8, pages 1225-1239.
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Articles from other publishers (37)

Mukhamad Sunardi, Keisuke Ito, Yuya Sato, Toshihiro Uesaka, Mitsuhiro Iwasaki & Hideki Enomoto. (2023) A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism. Cellular and Molecular Gastroenterology and Hepatology 15:6, pages 1505-1524.
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Masahide TAKAHASHI. (2022) RET receptor signaling: Function in development, metabolic disease, and cancer. Proceedings of the Japan Academy, Series B 98:3, pages 112-125.
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Vishnu Muthuraj Kumarasamy & Daekyu Sun. (2017) Demonstration of a potent RET transcriptional inhibitor for the treatment of medullary thyroid carcinoma based on an ellipticine derivative. International Journal of Oncology 51:1, pages 145-157.
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Shani Marom, Michael Friger & Dan Mishmar. (2017) MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association. Scientific Reports 7:1.
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Yunmin Li, Tatsuo Kido, Maria M. Garcia-Barcelo, Paul K. H. Tam, Z. Laura Tabatabai & Yun-Fai Chris Lau. (2015) SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. Human Molecular Genetics 24:3, pages 685-697.
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Douglas S. Richardson, David M. Rodrigues, Brandy D. Hyndman, Mathieu J. F. Crupi, Adrian C. Nicolescu & Lois M. Mulligan. (2012) Alternative splicing results in RET isoforms with distinct trafficking properties. Molecular Biology of the Cell 23:19, pages 3838-3850.
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Mehdi Hedayati, Marjan Zarif Yeganeh, Sara Sheikhol Eslami, Shekoofe Rezghi Barez, Laleh Hoghooghi Rad & Fereidoun Azizi. (2011) Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. Journal of Thyroid Research 2011, pages 1-6.
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Svend Kjær, Sarah Hanrahan, Nick Totty & Neil Q McDonald. (2010) Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations. Nature Structural & Molecular Biology 17:6, pages 726-731.
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R. M. Fernández, A. Sánchez-Mejías, M. D. Mena, M. Ruiz-Ferrer, M. López-Alonso, G. Antiñolo & S. Borrego. (2009) A Novel Point Variant in NTRK3 , R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease . Annals of Human Genetics 73:1, pages 19-25.
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M.‐M. Garcia‐Barceló, D. K. Lau, E. S. Ngan, T. Y. Leon, T. Liu, M. So, X. Miao, V. C. Lui, K. K. Wong, R. W. Ganster, D. T. Cass, G. D. H. Croaker & P. K. Tam. (2007) Evaluation of the NK2 Homeobox 1 Gene ( NKX2‐1 ) as a Hirschsprung's Disease Locus 
THIS ARTICLE HAS BEEN RETRACTED . Annals of Human Genetics 72:2, pages 170-177.
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Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson & Alex J. Freemerman. (2008) Renal Aplasia in Humans Is Associated with RET Mutations. The American Journal of Human Genetics 82:2, pages 344-351.
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P Runeberg-Roos, H Virtanen & M Saarma. (2007) RET(MEN 2B) is active in the endoplasmic reticulum before reaching the cell surface. Oncogene 26:57, pages 7909-7915.
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Maria-Mercè Garcia-Barceló, Danny Ko-chun Lau, Elly Sau-wai Ngan, Thomas Yuk-yu Leon, Ting-ting Liu, Man-ting So, Xiao-ping Miao, Vincent Chi-hang Lui, Kenneth Kak-yuen Wong, Raymond William Ganster, Daniel Thomas Cass, Geoffrey David Hain Croaker & Paul Kwong-hang Tam. (2007) Evaluation of the Thyroid Transcription Factor-1 Gene (TITF1) as a Hirschsprung's Disease Locus. Annals of Human Genetics 71:6, pages 746-754.
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Matthias Drosten & Brigitte M Pützer. (2006) Mechanisms of Disease: cancer targeting and the impact of oncogenic RET for medullary thyroid carcinoma therapy. Nature Clinical Practice Oncology 3:10, pages 564-574.
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Naoya Asai, Mayumi Jijiwa, Atsushi Enomoto, Kumi Kawai, Kengo Maeda, Masatoshi Ichiahara, Yoshiki Murakumo & Masahide Takahashi. (2006) RET receptor signaling: Dysfunction in thyroid cancer and Hirschsprung's disease. Pathology International 56:4, pages 164-172.
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Barbara Frêche, Patricia Guillaumot, Julie Charmetant, Ludivine Pelletier, Celine Luquain, Dale Christiansen, Marc Billaud & Serge N. Manié. (2005) Inducible Dimerization of RET Reveals a Specific AKT Deregulation in Oncogenic Signaling. Journal of Biological Chemistry 280:44, pages 36584-36591.
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Vincent CH LuiThomas YY LeonMaria-Mercedes Garcia-Barceló, Raymond W GansterBenedict LS ChenJohn M Hutson & Paul KH Tam. (2005) Novel RET Mutation Produces a Truncated RET Receptor Lacking the Intracellular Signaling Domain in a 3-Generation Family with Hirschsprung Disease. Clinical Chemistry 51:8, pages 1552-1554.
Crossref
Elena Arighi, Maria Grazia Borrello & Hannu Sariola. (2005) RET tyrosine kinase signaling in development and cancer. Cytokine & Growth Factor Reviews 16:4-5, pages 441-467.
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Angela Amoresano, Mariarosaria Incoronato, Gianluca Monti, Piero Pucci, Vittorio de Franciscis & Laura Cerchia. (2005) Direct interactions among Ret, GDNF and GFRα1 molecules reveal new insights into the assembly of a functional three-protein complex. Cellular Signalling 17:6, pages 717-727.
Crossref
M. Poturnajova, V. Altanerova, L. Kostalova, J. Breza & C. Altaner. (2004) Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. Journal of Molecular Medicine 83:4, pages 287-295.
Crossref
S. Dvorakova, E. Vaclavikova, J. Duskova, P. Vlcek, A. Ryska & B. Bendlova. (2014) Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg. Journal of Endocrinological Investigation 28:1, pages 905-909.
Crossref
Massimo Stefani. (2004) Protein misfolding and aggregation: new examples in medicine and biology of the dark side of the protein world. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1739:1, pages 5-25.
Crossref
Brigitte M. Pützer & Matthias Drosten. (2004) The RET proto-oncogene: a potential target for molecular cancer therapy. Trends in Molecular Medicine 10:7, pages 351-357.
Crossref
M. DrostenT. StieweB.M. Pützer. (2003) Antitumor Capacity of a Dominant-Negative RET Proto-Oncogene Mutant in a Medullary Thyroid Carcinoma Model . Human Gene Therapy 14:10, pages 971-982.
Crossref
K Kurokawa, K. Kawai, M. Hashimoto, Y. Ito & M. Takahashi. (2003) Cell signalling and gene expression mediated by RET tyrosine kinase. Journal of Internal Medicine 253:6, pages 627-633.
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Matthias Drosten, Andreja Frilling, Thorsten Stiewe & Brigitte M. Pützer. (2002) A new therapeutic approach in medullary thyroid cancer treatment: Inhibition of oncogenic RET signaling by adenoviral vector-mediated expression of a dominant-negative RET mutant. Surgery 132:6, pages 991-997.
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Guido Fitze, Jakob Cramer, Andreas Ziegler, Mandy Schierz, Matthias Schreiber, Eberhard Kuhlisch, Dietmar Roesner & Hans K Schackert. (2002) Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. The Lancet 359:9313, pages 1200-1205.
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Masahide Takahashi. (2001) The GDNF/RET signaling pathway and human diseases. Cytokine & Growth Factor Reviews 12:4, pages 361-373.
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Serge Manié, Massimo Santoro, Alfredo Fusco & Marc Billaud. (2001) The RET receptor: function in development and dysfunction in congenital malformation. Trends in Genetics 17:10, pages 580-589.
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Jonas Anders, Svend Kjær & Carlos F. Ibáñez. (2001) Molecular Modeling of the Extracellular Domain of the RET Receptor Tyrosine Kinase Reveals Multiple Cadherin-like Domains and a Calcium-binding Site. Journal of Biological Chemistry 276:38, pages 35808-35817.
Crossref
Masahiko Yamamoto, Mei Li, Norimasa Mitsuma, Shinji Ito, Masashi Kato, Masahide Takahashi & Gen Sobue. (2001) Preserved phosphorylation of RET receptor protein in spinal motor neurons of patients with amyotrophic lateral sclerosis: an immunohistochemical study by a phosphorylation-specific antibody at tyrosine 1062. Brain Research 912:1, pages 89-94.
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Monique G Julies, Sam W Moore, Maritha J Kotze & Lana du Plessis. (2001) Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. European Journal of Human Genetics 9:6, pages 419-423.
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Takashi Shimotake, Seitetsu Go, Kyoko Inoue, Hideki Tomiyama & Naomi Iwai. (2001) A Homozygous Missense Mutation in The Tyrosine Kinase Domain of The Ret Proto-Oncogene in An Infant With Total Intestinal Aganglionosis. American Journal of Gastroenterology 96:4, pages 1286-1291.
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Kyoko Inoue, Takashi Shimotake & Naomi Iwai. (2000) Mutational analysis ofRET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement. American Journal of Medical Genetics 93:4, pages 278-284.
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Richard M. SiegelJohn K. FrederiksenDavid A. ZachariasFrancis Ka-Ming ChanMichele JohnsonDavid LynchRoger Y. TsienMichael J. Lenardo. (2000) Fas Preassociation Required for Apoptosis Signaling and Dominant Inhibition by Pathogenic Mutations. Science 288:5475, pages 2354-2357.
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Guido Fitze, Matthias Schreiber, Eberhard Kuhlisch, Hans K. Schackert & Dietmar Roesner. (1999) Association of RET Protooncogene Codon 45 Polymorphism with Hirschsprung Disease. The American Journal of Human Genetics 65:5, pages 1469-1473.
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Masahide Takahashi, Toshihide Iwashita, Massimo Santoro, Stanislas Lyonnet, Gilbert M. Lenoir & Marc Billaud. (1999) Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss‐of‐function? . Human Mutation 13:4, pages 331-336.
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