RET

Summary

Gene Symbol: RET
Description: ret proto-oncogene
Alias: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET51, RET transforming sequence, cadherin family member 12, cadherin-related family member 16, hydroxyaryl-protein kinase, proto-oncogene c-Ret, proto-oncogene tyrosine-protein kinase receptor Ret, receptor tyrosine kinase, ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
Species: human

Top Publications

  1. ncbi Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
    Xiaoping Miao
    Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Hum Mol Genet 19:1461-7. 2010
  2. ncbi A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    Eileen Sproat Emison
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nature 434:857-63. 2005
  3. ncbi Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
    H Donis-Keller
    Division of Human Molecular Genetics, Washington University School of Medicine, St Louis, MO 63110
    Hum Mol Genet 2:851-6. 1993
  4. ncbi The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    C Eng
    Division of Cancer Epidemiology and Control, Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA 02115 6084, USA
    JAMA 276:1575-9. 1996
  5. ncbi RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B
    Yulin Zhou
    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Ruijin Hospital, Jiao Tong University, Shanghai
    Clin Endocrinol (Oxf) 67:570-6. 2007
  6. ncbi Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Nature 363:458-60. 1993
  7. ncbi Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Hum Mol Genet 3:2163-7. 1994
  8. ncbi Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    G Romeo
    Istituto Giannina Gaslini, Genova Quarto, Italy
    Nature 367:377-8. 1994
  9. ncbi Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
    O Gimm
    Translational Research Laboratory, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    J Clin Endocrinol Metab 82:3902-4. 1997
  10. ncbi A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    S Lyonnet
    Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
    Nat Genet 4:346-50. 1993

Research Grants

  1. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    Sean J Morrison; Fiscal Year: 2010
  2. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    SEAN MORRISON; Fiscal Year: 2009
  3. Ret Signaling in Paraneoplastic Peripheral Neuropathy
    JOSEPHINE FOX; Fiscal Year: 2007
  4. GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASE
    Aravinda Chakravarti; Fiscal Year: 2007
  5. Oncogenic Kit receptor signaling in vivo
    Peter Besmer; Fiscal Year: 2010
  6. RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASE
    Charis Eng; Fiscal Year: 2004
  7. A Mouse Model for Human Gastrointestinal Stromal Tumor
    Peter Besmer; Fiscal Year: 2010
  8. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel R Schoenberg; Fiscal Year: 2010
  9. A DROSOPHILA MODEL FOR MEN2B AND SPORADIC MTC
    Ross Cagan; Fiscal Year: 2004
  10. Functional Dissection of Ret Signaling Pathways
    Sanjay Jain; Fiscal Year: 2007

Detail Information

Publications223 found, 100 shown here

  1. ncbi Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
    Xiaoping Miao
    Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Hum Mol Genet 19:1461-7. 2010
    b>Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR)...
  2. ncbi A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    Eileen Sproat Emison
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nature 434:857-63. 2005
    ..a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes...
  3. ncbi Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
    H Donis-Keller
    Division of Human Molecular Genetics, Washington University School of Medicine, St Louis, MO 63110
    Hum Mol Genet 2:851-6. 1993
    ..The variants were observed only in the DNA of individuals who were either affected or who had inherited the MEN2A or FMTC allele as determined by haplotyping experiments. The seven variants identified were sequenced directly...
  4. ncbi The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    C Eng
    Division of Cancer Epidemiology and Control, Dana Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA 02115 6084, USA
    JAMA 276:1575-9. 1996
    ..The purpose of this study was to establish the relationship between specific mutations and the presence of certain disease features in MEN 2 which could help in clinical decision making...
  5. ncbi RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B
    Yulin Zhou
    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Ruijin Hospital, Jiao Tong University, Shanghai
    Clin Endocrinol (Oxf) 67:570-6. 2007
    ..gain-of-function mutations in the RET proto-oncogene, which includes multiple endocrine neoplasia type 2A (MEN2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC)...
  6. ncbi Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Nature 363:458-60. 1993
    ..2 (refs 2,3). The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid...
  7. ncbi Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Hum Mol Genet 3:2163-7. 1994
    Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid ..
  8. ncbi Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    G Romeo
    Istituto Giannina Gaslini, Genova Quarto, Italy
    Nature 367:377-8. 1994
    ..It was subsequently localized to a 250-kilobase interval which contains the RET proto-oncogene...
  9. ncbi Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
    O Gimm
    Translational Research Laboratory, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    J Clin Endocrinol Metab 82:3902-4. 1997
    ..More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene...
  10. ncbi A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    S Lyonnet
    Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
    Nat Genet 4:346-50. 1993
    ..2, a region to which other neural crest defects have been mapped...
  11. ncbi Correlation between genetic variations in Hox clusters and Hirschsprung's disease
    M M Garcia-Barcelo
    Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China
    Ann Hum Genet 71:526-36. 2007
    ..A key signalling mediator is the RET-receptor-tyrosine-kinase which, when defective, causes Hirschprung's disease (HSCR, colon aganglionosis)...
  12. ncbi A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
    Paola Griseri
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Hum Mutat 25:189-95. 2005
    ..HSCR) is a complex genetic defect of intestinal innervation mainly ascribed to loss of function mutations of the RET gene...
  13. ncbi Molecular analysis of congenital central hypoventilation syndrome
    Ayako Sasaki
    Department of Pediatrics, Yamagata Univercity School of Medicine, 2 2 2 Iida nishi, 990 9585 Yamagata, Japan
    Hum Genet 114:22-6. 2003
    ..The genes involved in the RET-GDNF signaling and/or EDN3-EDNRB signaling pathways have been analyzed as candidates for CCHS; however, only a few ..
  14. ncbi Mutations of the RET proto-oncogene in Hirschsprung's disease
    P Edery
    Service de Genetique Medicale, Clinique Chirurgicale Infantile, Hopital Necker Enfants Malades, Paris, France
    Nature 367:378-80. 1994
    ..2 (refs 6, 7). No recombination was observed between the disease locus and the locus for the RET proto-oncogene, a protein tyrosine kinase gene expressed in the cells derived from the neural crest...
  15. ncbi A RET double mutation in the germline of a kindred with FMTC
    D K Bartsch
    Department of Surgery, Philipps University of Marburg, Germany
    Exp Clin Endocrinol Diabetes 108:128-32. 2000
    Activating germline mutations of the RET proto-oncogene are found in more than 90% of families with multiple endocrine neoplasia type 2a (MEN 2a) and familial medullary thyroid carcinoma (FMTC)...
  16. ncbi Tissue distribution of Ret, GFRalpha-1, GFRalpha-2 and GFRalpha-3 receptors in the human brainstem at fetal, neonatal and adult age
    Marina Quartu
    Department of Cytomorphology, University of Cagliari, Cittadella Universitaria di Monserrato, 09042 Monserrato, Italy
    Brain Res 1173:36-52. 2007
    ..of receptor components of the glial cell line-derived neurotrophic factor (GDNF) family ligands, the Ret receptor tyrosine kinase and the GDNF family receptor (GFR) alpha-1 to -3, were examined by immunohistochemistry in the normal ..
  17. ncbi RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population
    Rossella Elisei
    Department of Endocrinology, University of Pisa, Via Paradisa 2, 56124 Pisa, Italy
    J Clin Endocrinol Metab 89:3579-84. 2004
    The RET protooncogene is constitutively activated by point mutations in hereditary medullary thyroid carcinomas (MTCs). RET somatic point mutations have also been reported in 40-50% of sporadic MTCs...
  18. ncbi RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population
    Cuiping Liu
    Institute of Cell Biology, Zhejiang University, Hangzhou, Zhejiang 310058, China
    J Hum Genet 53:825-33. 2008
    ..b>RET coding mutations have been found in approximately 50% of familial cases, but they only explain a minority of ..
  19. ncbi RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2
    M J Lorenzo
    CRC Human Cancer Genetics Research Group, University of Cambridge, Department of Pathology, Cambridge, UK
    Oncogene 14:763-71. 1997
    Activating germline mutations of the RET receptor tyrosine kinase are found in the majority of cases of inherited cancer syndrome MEN 2, and inactivating mutations in some cases of dominantly inherited Hirschsprung disease...
  20. ncbi RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome
    Marcia K Puñales
    Endocrine Division, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035 003, Rio Grande do Sul, Brazil
    J Clin Endocrinol Metab 88:2644-9. 2003
    ..analysis of hereditary medullary thyroid carcinoma (MTC) in southern Brazil, in 1997, 17 independent families with RET germline mutation have been identified...
  21. ncbi RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
    S Borrego
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospital Universitario Virgen del Rocio, Sevilla, Spain
    J Med Genet 37:572-8. 2000
    ..Germline mutations of the RET proto-oncogene are believed to account for up to 50% of familial cases and up to 30% of isolated cases in most ..
  22. ncbi Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918
    Fred H Menko
    Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands
    J Clin Endocrinol Metab 87:393-7. 2002
    ..Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals...
  23. ncbi Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome
    M Poturnajova
    Laboratory of Molecular Oncology, Cancer Research Institute SAS, Vlarska 7, 83391 Bratislava, Slovakia
    J Mol Med (Berl) 83:287-95. 2005
    Two mutations on the same allele of RET gene were revealed in a family with predisposition to multiple endocrine neoplasia (MEN) type 2A. The first mutation changes codon 634 from cysteine to serine...
  24. ncbi Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties
    A Machens
    Department of General Surgery, Martin Luther University Halle Wittenberg, D 06097 Halle Saale, Germany
    J Clin Endocrinol Metab 86:1104-9. 2001
    In hereditary medullary thyroid carcinoma (MTC), few genotype-phenotype correlations have been established. RET genotypes (exons 10, 11, 13, and 14) of 63 patients with hereditary MTC (from November 1994 to October 1999) were correlated ..
  25. ncbi Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population
    Xiaoping Miao
    Gut 56:736. 2007
  26. ncbi Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
    S Dvorakova
    Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic
    J Endocrinol Invest 28:905-9. 2005
    ..thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15...
  27. ncbi Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease
    G Fitze
    Am J Hum Genet 65:1469-73. 1999
  28. ncbi A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene
    A Tessitore
    Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge, Centro di Ingegneria Genetica, Universita degli Studi di Napoli Federico II, Italy
    J Clin Endocrinol Metab 84:3522-7. 1999
    ..a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET. One affects codon 634 and causes a cysteine to arginine substitution; the second at codon 640 causes an alanine to ..
  29. ncbi Binding of GDNF and neurturin to human GDNF family receptor alpha 1 and 2. Influence of cRET and cooperative interactions
    M Cik
    Department of Biochemical Pharmacology and the Department of Biotechnology and High Throughput Screening, Janssen Research Foundation, B 2340 Beerse, Belgium
    J Biol Chem 275:27505-12. 2000
    ..These results suggest an interaction of GFRalpha1 and cRET in the absence of GDNF and demonstrate that the high affinity binding can be measured only when cRET is present...
  30. ncbi Synthesis, modeling, and RET protein kinase inhibitory activity of 3- and 4-substituted beta-carbolin-1-ones
    Raffaella Cincinelli
    Dipartimento di Scienze Molecolari Agroalimentari, Universita di Milano, Via Celoria 2, 20133 Milano, Italy
    J Med Chem 51:7777-87. 2008
    ..and 3,10-dihydro-2H-azepino[3,4-b]indol-1-ones have been designed, synthesized, and evaluated as RET protein kinase inhibitors on the basis of their structural similarity with the prototype indolin-2-one RPI-1...
  31. ncbi Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations
    Rebecca L Margraf
    ARUP Institute for Clinical and Experimental Pathology R, Salt Lake City, Utah 84108, USA
    Hum Mutat 30:548-56. 2009
    ..neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene...
  32. ncbi Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
    T Attie
    Service de Genetique Medicale, INSERM U 393, Institut Necker, Hopital des Enfants Malades, Paris, France
    Hum Mol Genet 4:1381-6. 1995
    ..2 and the disease has been ascribed to mutations in a tyrosine kinase receptor gene mapping to this region, the RET proto-oncogene...
  33. ncbi Oncogenic RET receptors display different autophosphorylation sites and substrate binding specificities
    X Liu
    Department of Biological Chemistry, University of Michigan School of Medicine, Ann Arbor, 48109, USA
    J Biol Chem 271:5309-12. 1996
    The c-ret proto-oncogene encodes a receptor tyrosine kinase which plays an important role in neural crest as well as kidney development...
  34. ncbi Parkinson disease-associated DJ-1 is required for the expression of the glial cell line-derived neurotrophic factor receptor RET in human neuroblastoma cells
    Rossana Foti
    Sector of Neurobiology, International School for Advanced Studies, Giovanni Armenise Harvard Foundation Laboratory, Area Science Park, SS 14, Km 163 5, Basovizza, Italy
    J Biol Chem 285:18565-74. 2010
    ..Here we show that DJ-1 plays an essential role in the expression of rearranged during transfection (RET), a receptor for the glial cell line-derived neurotrophic factor, a neuroprotective molecule for dopaminergic ..
  35. ncbi A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    R M Hofstra
    Department of Medical Genetics, University of Groningen, The Netherlands
    Nature 367:375-6. 1994
    ..In familial MTC, only the thyroid is affected. Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC...
  36. ncbi Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
    Zoran Erlic
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, D 79106 Freiburg, Germany
    J Clin Endocrinol Metab 95:308-13. 2010
    ..Variants in two susceptibility genes, SDHC and RET, were found in a kindred with head and neck paraganglioma...
  37. ncbi Inhibiton of RET and JAK2 signals and upregulation of VEGFR3 phosphorylation in vitro by galectin-1 in trophoblast tumor cells BeWo
    I Fischer
    Ludwig Maximilians University of Munich, Department of Obstetrics and Gynecology, Munich, Germany
    Placenta 30:1078-82. 2009
    ....
  38. ncbi Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China
    Cui Ping Liu
    Institute of Cell Biology, Zhejiang University, Hangzhou, Zhejiang Province, China
    Biochem Genet 48:496-503. 2010
    ..This study investigated a possible role of the RET proto-oncogene in sporadic HSCR patients in the Han Chinese population...
  39. ncbi Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    Karin Frank-Raue
    Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
    Hum Mutat 32:51-8. 2011
    Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce...
  40. ncbi The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma
    M G Borrello
    Divisione di Oncologia Sperimentale A, Istituto Nazionale Tumori, Milan, Italy
    Mol Cell Biol 16:2151-63. 1996
    b>RET/PTC oncogenes, generated by chromosomal rearrangements in papillary thyroid carcinomas, are constitutively activated versions of proto-RET, a gene coding for a receptor-type tyrosine kinase (TK) whose ligand is still unknown...
  41. ncbi Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
    M Santoro
    Centro di Endocrinologia ed Oncologia Sperimentale, Consiglio Nazionale delle Ricerche CNR, Napoli, Italy
    Science 267:381-3. 1995
    Multiple endocrine neoplasia types 2A and 2B (MEN2A and MEN2B) and familial medullary thyroid carcinoma are dominantly inherited cancer syndromes...
  42. ncbi Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    Minerva M Carrasquillo
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe St, Jefferson St Bldg, 2 109, Baltimore, Maryland 21287, USA
    Nat Genet 32:237-44. 2002
    ..at 13q22 is EDNRB, encoding a G protein-coupled receptor (GPCR) and the gene at 10q11 is RET, encoding a receptor tyrosine kinase (RTK)...
  43. ncbi TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
    Merce Garcia-Barcelo
    Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
    Hum Mol Genet 14:191-204. 2005
    Single nucleotide polymorphisms (SNPs) of the coding regions of receptor tyrosine kinase gene (RET) are associated with Hirschsprung's disease (HSCR, aganglionic megacolon)...
  44. ncbi Regulation of signal transducer and activator of transcription 1 (STAT1) and STAT1-dependent genes by RET/PTC (rearranged in transformation/papillary thyroid carcinoma) oncogenic tyrosine kinases
    Eun Suk Hwang
    Laboratory of Endocrine Cell Biology, National Research Laboratory Program, Seoul National University College of Medicine, Seoul, Korea
    Mol Endocrinol 18:2672-84. 2004
    Chimeric RET/PTC (rearranged in transformation/papillary thyroid carcinoma) oncoproteins are constitutively active tyrosine kinases found in thyroid papillary carcinoma and nonneoplastic Hashimoto's thyroiditis...
  45. ncbi Retinoic acid influences the expression of the neuronal regulatory genes Mash-1 and c-ret in the developing rat heart
    T Shoba
    Department of Anatomy, Faculty of Medicine, MD 10, 4 Medical Drive, National University of Singapore, 117 597, Singapore, Singapore
    Neurosci Lett 318:129-32. 2002
    We analyzed the expression of neuronal regulatory genes Mash-1 and c-ret by immunohistochemistry and reverse transcriptase-polymerase chain reaction in the developing heart of rat embryos following exogenous retinoic acid (RA) treatment ..
  46. ncbi Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity
    J R Farndon
    Br J Surg 73:278-81. 1986
    ..This study demonstrates that MTC may occur in a familial pattern distinct from its presentation as MEN IIa or MEN IIb. In this setting it appears to be the least aggressive form of MTC yet described...
  47. ncbi Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
    F Lantieri
    Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy, 16148
    Ann Hum Genet 70:12-26. 2006
    The RET proto-oncogene is the major gene involved in the complex genetics of Hirschsprung disease (HSCR), or aganglionic megacolon, showing causative loss-of-function mutations in 15-30% of the sporadic cases...
  48. ncbi RET mutations in exons 13 and 14 of FMTC patients
    A Bolino
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Oncogene 10:2415-9. 1995
    RET is a receptor tyrosine kinase gene which is responsible for three different inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as ..
  49. ncbi Neutralizing aptamers from whole-cell SELEX inhibit the RET receptor tyrosine kinase
    Laura Cerchia
    Istituto per I Endocrinologia e Oncologia Molecolare G Salvatore, CNR, Naples, Italy
    PLoS Biol 3:e123. 2005
    ..Nuclease-resistant aptamers that recognize the human receptor tyrosine kinase RET were obtained using RET-expressing cells as targets in a modified SELEX procedure...
  50. ncbi Microspherule protein 1, Mi-2beta, and RET finger protein associate in the nucleolus and up-regulate ribosomal gene transcription
    Keiko Shimono
    Department of Pathology, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Biol Chem 280:39436-47. 2005
    ..protein), we found that Mi-2beta, a component of a nucleosome remodeling and deacetylase (NuRD) complex, RET finger protein (RFP), and upstream binding factor (UBF) were associated with MCRS1...
  51. ncbi A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3
    A S Brooks
    J Med Genet 43:e35. 2006
    ..Analysis of the RET gene, the major gene involved in HSCR susceptibility, revealed neither linkage nor mutations...
  52. ncbi Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype
    M Santoro
    Centro di Endocrinologia ed Oncologia, Sperimentale del CNR, Facolta di Medicina e Chirurgia, Universita di Napoli, Italy
    J Clin Invest 89:1517-22. 1992
    ..This oncogene, papillary thyroid carcinoma (PTC), is a novel rearranged version of the ret tyrosine-kinase protooncogene...
  53. ncbi Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families
    G Fitze
    Department of Paediatric Surgery, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    Eur J Pediatr Surg 13:152-7. 2003
    ..Several genes, including the major HSCR-susceptibility RET proto-oncogene, play an aetiological role in the development of HSCR...
  54. ncbi A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma
    R M Hofstra
    Department of Medical Genetics, University of Groningen, The Netherlands
    J Clin Endocrinol Metab 82:4176-8. 1997
    Specific mutations in the ret protooncogene have been found associated with multiple endocrine neoplasia type 2A (MEN 2A) and type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC)...
  55. ncbi Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
    Jeanne Amiel
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Nat Genet 33:459-61. 2003
    ..Our data support an essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans...
  56. ncbi An autocrine loop involving ret and glial cell-derived neurotrophic factor mediates retinoic acid-induced neuroblastoma cell differentiation
    Laura Cerchia
    Istituto per l Endocrinologia e l Oncologia Sperimentale del Consiglio Nazionale delle Ricerche G Salvatore, Naples, Italy
    Mol Cancer Res 4:481-8. 2006
    ..factor receptors, including Trk family receptors and the glial cell-derived neurotrophic factor receptor, Ret. In several cases, increased expression is dependent on signaling through TrkB...
  57. ncbi Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
    Maria Mercè Garcia-Barceló
    Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong
    Proc Natl Acad Sci U S A 106:2694-9. 2009
    ..b>RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci ..
  58. ncbi Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
    Guido Fitze
    Department of Pediatric Surgery, University of Technology Dresden, Germany
    Hum Mol Genet 12:3207-14. 2003
    The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for a directional migration of enteric nervous system progenitor cells...
  59. ncbi Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 12:604-12. 2004
    ..b>RET mutations have been found in approximately 50% of the families, but explains only a minority of sporadic cases...
  60. ncbi Segregation at three loci explains familial and population risk in Hirschsprung disease
    Stacey B Gabriel
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    Nat Genet 31:89-93. 2002
    ..Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR but fail to explain the transmission ..
  61. ncbi Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Nat Genet 6:70-4. 1994
    ..84% of the MEN2A mutations affected codon 634...
  62. ncbi RAI(ShcC/N-Shc)-dependent recruitment of GAB 1 to RET oncoproteins potentiates PI 3-K signalling in thyroid tumors
    Valentina De Falco
    Instituto di Endocrinologia ed Oncologia Sperimentale del CNR G Salvatore, c o Dipartimento di Biologia e Patologia Cellulare e Molecolare, Via S Pansini 5, 80131 Naples, Italy
    Oncogene 24:6303-13. 2005
    RAI, also named ShcC/N-Shc, one of the members of the Shc proteins family, is a substrate of the RET receptor tyrosine kinase. Here, we show that RAI forms a protein complex with both RET/MEN 2 A and RET/PTC oncoproteins...
  63. ncbi A large family with hereditary MTC: role of RET genetic analysis in differential diagnosis between MEN 2A and FMTC
    E Chiefari
    Cattedra di Endocrinologia, Dipartimento di Medicina Sperimentale e Clinica, Catanzaro, Italy
    Horm Metab Res 33:52-6. 2001
    Germline mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC)...
  64. ncbi Diagnosis and management of medullary thyroid carcinoma
    Nicole Massoll
    Department of Pathology, University of Florida, PO Box 100275, Gainesville, FL 32610 0275, USA
    Clin Lab Med 24:49-83. 2004
    ..HPT is an important aspect of MEN2A and requires surgery according to current guidelines for the management of primary HPT...
  65. ncbi Unresolved issues in the genesis and management of multiple endocrine neoplasia type 2
    R F Gagel
    Section of Endocrinology, University of Texas M.D. Anderson Cancer Center, Houston, USA
    Horm Metab Res 29:135-7. 1997
    It has been slightly less than 3 years since mutations of the RET proto-oncogene were identified in multiple endocrine neoplasia type 2...
  66. ncbi Deciphering adaptor specificity in GFL-dependent RET-mediated proliferation and neurite outgrowth
    Jason A Gustin
    Department of Pathology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurochem 102:1184-94. 2007
    Glial cell derived neurotrophic factor (GDNF)-dependent receptor tyrosine kinase RET activity is required for proper development of the nervous system and genitourinary tract...
  67. ncbi Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal
    Hugo João Prazeres
    Molecular Pathology Laboratory, Regional Centre of Oncology of Coimbra, Portuguese Institute of Oncology, Coimbra, Portugal
    Clin Endocrinol (Oxf) 64:659-66. 2006
    ..and in the context of autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), which are caused by activating germline mutations in the ..
  68. ncbi Diagnosis and surgical treatment of multiple endocrine neoplasia
    Guang Wen Zhou
    Department of Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    Chin Med J (Engl) 122:1495-500. 2009
    ..Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN...
  69. ncbi Characterization of gene expression induced by RET with MEN2A or MEN2B mutation
    Tsuyoshi Watanabe
    Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Pathol 161:249-56. 2002
    ..We performed a differential display analysis of gene expression using NIH 3T3 cells expressing the RET-MEN2A or RET-MEN2B mutant proteins...
  70. ncbi Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians
    Cleber P Camacho
    Department of Medicine, Federal University of Sao Paulo, SP, Brazil
    Arq Bras Endocrinol Metabol 52:1393-8. 2008
    ..may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician...
  71. ncbi Transcriptome analysis in mouse tumors induced by Ret-MEN2/FMTC mutations reveals subtype-specific role in survival and interference with immune surveillance
    D Engelmann
    Department of Vectorology and Experimental Gene Therapy, University of Rostock, D 18055 Rostock, Germany
    Endocr Relat Cancer 16:211-24. 2009
    ..subtypes through whole-genome microarray analysis in tumors induced by NIH-3T3 cells transformed with defined RET-MEN2A (C609Y, C634R), MEN2B, (A883F, M918T), and FMTC (Y791F) mutations...
  72. ncbi A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus
    T C Lairmore
    Department of Surgery, Washington University School of Medicine, St Louis, MO 63110
    Proc Natl Acad Sci U S A 90:492-6. 1993
    ..2 are very closely linked to a locus responsible for the multiple endocrine neoplasia type 2 (MEN2A and MEN2B) and medullary thyroid carcinoma (MTC1) familial cancer syndromes. We have constructed a 1...
  73. ncbi Roles of induced expression of MAPK phosphatase-2 in tumor development in RET-MEN2A transgenic mice
    T Hasegawa
    Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Oncogene 27:5684-95. 2008
    ..in the RET tyrosine kinase gene are responsible for the development of multiple endocrine neoplasia 2A and 2B (MEN2A and MEN2B)...
  74. ncbi Targeting the RET pathway in thyroid cancer
    Samuel A Wells
    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Clin Cancer Res 15:7119-23. 2009
    ..germline RET mutations play a central role in the development of the multiple endocrine neoplasia (MEN) syndromes MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) and also in the development of the congenital abnormality ..
  75. ncbi Mutation scanning of the RET protooncogene using high-resolution melting analysis
    Rebecca L Margraf
    Advanced Technology Group, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem 52:138-41. 2006
    ..RET protooncogene are associated with the autosomal dominant multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma...
  76. ncbi Rearrangement analysis in archival thyroid tissues: punching microdissection and artificial RET/PTC 1-12 transcripts
    Florian Imkamp
    Department of Urology, Hannover University Medical School, Hannover, Germany
    J Surg Res 143:350-63. 2007
    In few papillary thyroid carcinomas (PTC) and oxyphilic thyroid carcinoma, the clinical impact of the 15 known RET hybrid oncogene variants (RET/PTC 1 to 12, 1L, 3r2, 3r3) is subject to controversial discussions...
  77. ncbi High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines
    Xiulong Xu
    Department of General Surgery, Rush Presbyterian St Luke s Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
    Cancer Res 63:4561-7. 2003
    ..A second genetic alteration frequently involved in PTC is RET/PTC rearrangements...
  78. ncbi Intranuclear cytoplasmic inclusions and nuclear grooves in fine needle aspiration smears of papillary thyroid carcinoma and its variants: advantage of the count under an oil-immersion objective over a high-power objective
    Dilip K Das
    Department of Pathology, Faculty of Medicine, and Health Sciences Computer Center, Kuwait University, Safat, Kuwait
    Anal Quant Cytol Histol 27:83-94. 2005
    To determine the advantage of examining fine needle aspiration (FNA) smears of papillary thyroid carcinoma (PTC) under a 100 x oil-immersion objective, which is capable of optically sectioning the cells.
  79. ncbi [The clinical patterns and RET proto-oncogene in fifteen multiple endocrine neoplasia type 2A pedigrees]
    Yu Lin Zhou
    Department of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
    Zhonghua Nei Ke Za Zhi 46:466-70. 2007
    To detect the phenotype and rearranged mutations during transfection of RET proto-oncogene in fifteen multiple endocrine neoplasia type 2A (MEN2A) probands and their family members.
  80. ncbi [Interventional radiology in the palliative treatment of pancreatic cancer]
    E Mazza
    Dipartimento di Fisiopatologia Clinica, , Italia
    Tumori 85:S54-9. 1999
    ..In 44 patients Wallstents were placed during a single PTC session time ("one step" technique). In 21 cases (11%) peri-procedural complications occurred...
  81. ncbi [DelD631: a novel mutation of the RET proto-oncogene in multiple endocrine neoplasia type 2A (MEN2A)]
    Bin Yao
    Department of Endocrinology, First Affilicated Hospital of Sun Yat Sen University, Guangzhou 510080, China
    Zhonghua Yi Xue Za Zhi 87:1962-5. 2007
    To detect RET mutations in a rare Chinese big family with Multiple endocrine neoplasia type 2A (MEN2A).
  82. ncbi Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations
    M Takahashi
    Department of Pathology, Nagoya University School of Medicine, Japan
    J Intern Med 243:509-13. 1998
    ..endocrine neoplasia type 2A (MEN-2A), type 2B (MEN-2B) and familial medullary thyroid carcinoma (FMTC) mutations on Ret function were investigated by transfection of NIH 3T3 cells...
  83. ncbi Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma
    Christian A Koch
    Division of Endocrinology and Nephrology, University of Leipzig, Philipp Rosenthalstr, 27, 04103 Leipzig, Germany
    BMC Cancer 6:131. 2006
    Germline mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2), an autosomal dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid ..
  84. ncbi C-cell and thyroid epithelial tumours and altered follicular development in transgenic mice expressing the long isoform of MEN 2A RET
    L Reynolds
    CRC Department of Oncology, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Hills Road, Cambridge CB2 2XY, UK
    Oncogene 20:3986-94. 2001
    Gain-of-function mutations in the gene encoding the receptor tyrosine kinase RET have been identified as the aetiological factor for multiple endocrine neoplasia type 2A (MEN2A)...
  85. ncbi A redox-linked novel pathway for arsenic-mediated RET tyrosine kinase activation
    Masashi Kato
    Unit of Environmental Health Sciences, Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai shi, Aichi, Japan
    J Cell Biochem 110:399-407. 2010
    ..effects of arsenic on the activities of RET proto-oncogene (c-RET protein tyrosine kinases) and RET oncogene (RET-MEN2A and RET-PTC1 protein tyrosine kinases) products...
  86. ncbi Simultaneous downregulation of CDK inhibitors p18(Ink4c) and p27(Kip1) is required for MEN2A-RET-mediated mitogenesis
    P P Joshi
    Department of Biological Sciences, Purdue Cancer Center, Purdue University, West Lafayette, IN, USA
    Oncogene 26:554-70. 2007
    Multiple endocrine neoplasia type 2A (MEN2A) is predisposed by mutations in the RET proto-oncogene...
  87. ncbi A rapid method for the purification of wild-type and V804M mutant ret catalytic domain: A tool to study thyroid cancer
    Elisa Sala
    Department of Experimental Oncology, National Cancer Institute, Milan, Italy
    Int J Biol Macromol 39:60-5. 2006
    ..point mutations are identified in medullary thyroid carcinoma (MTC) and multiple endocrine neoplasias 2A and B (MEN2A and B), while translocations and chromosomal inversions cause papillary thyroid carcinoma (PTC)...
  88. ncbi Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells
    Ai Kurotsuchi
    Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Cancer Sci 101:1147-55. 2010
    ..the plasma membrane via its pleckstrin homology (PH) domain, and was phosphorylated following RET activation via a MEN2A mutation or GDNF stimulation...
  89. ncbi Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
    P L Durbec
    Division of Developmental Neurobiology, National Institute for Medical Research, Mill Hill, London, UK
    Development 122:349-58. 1996
    c-ret encodes a tyrosine kinase receptor that is necessary for normal development of the mammalian enteric nervous system. Germline mutations in c-ret lead to congenital megacolon in humans, while a loss-of-function allele (ret...
  90. ncbi RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A
    Yun Jae Chung
    Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Thyroid 14:813-8. 2004
    Identification of the germline mutation in the RET proto-oncogene is important for the diagnosis of hereditary medullary thyroid carcinoma (MTC). Hereditary forms account for approximately 25%-30% of all cases of MTC...
  91. ncbi C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes
    Luo Yin
    International Agency for Research on Cancer IARC, Lyon, France
    Int J Cancer 121:292-300. 2007
    Germline RET mutations are responsible for different inherited disorders: Hirschsprung disease (congenital aganglionic megacolon), caused by loss of function mutations, familial medullary thyroid carcinoma and multiple endocrine ..
  92. ncbi Temperature, eluent flow-rate and column effects on the retention and quantitation properties of phenylthiocarbamyl derivatives of amino acids in reversed-phase high-performance liquid chromatography
    A Vasanits
    Institute of Inorganic and Analytical Chemistry, , Budapest, Hungary
    J Chromatogr A 832:109-22. 1999
    The separation and identification possibilities of 27 PTC-amino acids (with particular attention to those present in apples in free forms), are reported on seven RP columns such as, Nucleosil, 3 and 5 microns: 150(+20 guard) x 4...
  93. ncbi The normal patched allele is expressed in medulloblastomas from mice with heterozygous germ-line mutation of patched
    C Wetmore
    Department of Developmental Neurobiology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Cancer Res 60:2239-46. 2000
    ..a developmental signaling pathway involving mammalian homologues of the Drosophila segment polarity gene, patched (ptc) and its ligand, sonic hedgehog (shh), contribute to tumor formation in several tissues...
  94. ncbi A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma
    Elly S W Ngan
    Department of Surgery, University of Hong Kong, Pokfulam, Faculty of Medicine Building, 21 Sassoon Rd, Hong Kong, SAR, China
    J Natl Cancer Inst 101:162-75. 2009
    The genetic factors that determine the risk of papillary thyroid carcinoma (PTC) among patients with multinodular goiter (MNG) remain undefined...
  95. ncbi [Expression of TTF-1 in thyroid tumors originating from follicular epithelium and its correlation with expression of RET, galectin-3 and mucin-1 genes]
    Yun Chen
    Department of Pathology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China
    Zhonghua Yi Xue Za Zhi 82:257-61. 2002
    ..expression of thyroid transcription factor-1 (TTF-1) in thyroid tumors and in different parts of follicular epithelium and the correlation of expression of TTF-1 with the expression of RET, galectin-3 (Gal-3) and mucin-1 (MUC1) genes.
  96. ncbi Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation
    Sina Jasim
    Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M D Anderson Cancer Center, Houston, TX, USA
    Thyroid 21:189-92. 2011
    ..type 2B (MEN-2B) are attributable to a germline methionine to threonine mutation at codon 918 (M918T) of the RET proto-oncogene; very few cases of a germline alanine to phenylalanine mutation at codon 883 (A883F) are reported ..
  97. ncbi Control of DAF-7 TGF-(alpha) expression and neuronal process development by a receptor tyrosine kinase KIN-8 in Caenorhabditis elegans
    M Koga
    Department of Biology, Graduate School of Sciences, Kyushu University, Fukuoka, Japan
    Development 126:5387-98. 1999
    ..KIN-8 is required for the process development of ASI, and also involved in promotion of daf-7 expression through a physiological or developmental function...
  98. ncbi Hybrid tyrosine kinase/cytokine receptors transmit mitogenic signals in response to ligand
    R E Pacifici
    Department of Molecular Biology, Amgen Inc, Amgen Center, Thousand Oaks, California 91320
    J Biol Chem 269:1571-4. 1994
    While much is known about the mechanisms by which members of the receptor tyrosine kinase family effect mitogenic signal transduction, much less is known about such mechanisms for members of the hematopoietic cytokine receptor family...
  99. ncbi Secondary hyperparathyroidism: evidence for an association with papillary thyroid cancer
    M L Klyachkin
    Department of Surgery, University of Kentucky Medical Center, Lexington 40536-0084, USA
    Am Surg 67:397-9. 2001
    ..We report three patients in whom invasive papillary thyroid carcinoma (PTC) was diagnosed before (one case) or at the time of (two cases) parathyroidectomy for SHPT...
  100. ncbi Characterization of the striatal dopaminergic neurotransmission in MEN2B mice with elevated cerebral tissue dopamine
    Jelena Mijatovic
    Division of Pharmacology and Toxicology, Faculty of Pharmacy, University of Helsinki, Finland
    J Neurochem 105:1716-25. 2008
    The Ret receptor tyrosine kinase is the common signaling receptor for the glial cell line-derived neurotrophic factor (GDNF) family ligands...
  101. ncbi Constitutive Ret activity in knock-in multiple endocrine neoplasia type B mice induces profound elevation of brain dopamine concentration via enhanced synthesis and increases the number of TH-positive cells in the substantia nigra
    Jelena Mijatovic
    Division of Pharmacology and Toxicology, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland
    J Neurosci 27:4799-809. 2007
    ..The Met918Thr mutation leads to constitutive activity of Ret receptor tyrosine kinase, causing the cancer syndrome called multiple endocrine neoplasia type B (MEN2B)...

Research Grants66

  1. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    Sean J Morrison; Fiscal Year: 2010
    ..Both the GDNF receptor, Ret, and the EDN3 receptor Endothelin receptor B (EDNRB) are expressed by the neural crest stem cells (NCSCs) that give ..
  2. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    SEAN MORRISON; Fiscal Year: 2009
    ..Both the GDNF receptor, Ret, and the EDN3 receptor Endothelin receptor B (EDNRB) are expressed by the neural crest stem cells (NCSCs) that give ..
  3. Ret Signaling in Paraneoplastic Peripheral Neuropathy
    JOSEPHINE FOX; Fiscal Year: 2007
    ..and papillary carcinoma patients, is caused by autoantibodies specific for the extracellular domain of the c-RET tyrosine kinase receptor...
  4. GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASE
    Aravinda Chakravarti; Fiscal Year: 2007
    ..this grant has led to the identification and biology of five genes involved in HSCR susceptibility: the receptor tyrosine kinase RET, RET's ligand glial cell-derived neurotrophic factor (GDNF), the endothelin receptor B (EDNRB), EDNRB'..
  5. Oncogenic Kit receptor signaling in vivo
    Peter Besmer; Fiscal Year: 2010
    ..Both signaling cascades have critical roles in receptor tyrosine kinase signaling and oncogenic transformation...
  6. RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASE
    Charis Eng; Fiscal Year: 2004
    DESCRIPTION (Adapted from investigator's abstract): The RET proto-oncogene, encoding a receptor tyrosine kinase, is the susceptibility gene for Hirschsprung disease (HSCR), a congenital absence of enteric ganglia, and for multiple ..
  7. A Mouse Model for Human Gastrointestinal Stromal Tumor
    Peter Besmer; Fiscal Year: 2010
    ..Most gastrointestinal stromal tumors express the KIT receptor tyrosine kinase, and oncogenic KIT signaling drives GIST tumorigenesis...
  8. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel R Schoenberg; Fiscal Year: 2010
    In erythroid cells a premature termination codon (PTC) in exons 1 or 2 of the beta-globin gene activates a cytoplasmic endonuclease that degrades beta-globin mRNA...
  9. A DROSOPHILA MODEL FOR MEN2B AND SPORADIC MTC
    Ross Cagan; Fiscal Year: 2004
    ..a dominantly-acting point mutation in the intracellular tyrosine kinase catalytic domain of the Ret receptor tyrosine kinase, resulting in ligand-and dimerization-independent activation of the receptor...
  10. Functional Dissection of Ret Signaling Pathways
    Sanjay Jain; Fiscal Year: 2007
    b>RET is a single membrane tyrosine kinase receptor that mediates signaling of GDNF family ligands (GFLs) in association with GFRalpha coreceptors...
  11. A Drosophila Model for MEN2 and Sporadic MTCs
    Ross Cagan; Fiscal Year: 2007
    ..Most patients diagnosed with MEN2 contain one of several dominantly-acting point mutations in the Ret receptor tyrosine kinase, resulting in ligand-independent activation of the receptor...
  12. A Drosophila Model for MEN2 and Sporadic MTCs
    Ross Cagan; Fiscal Year: 2009
    ..Most patients diagnosed with MEN2 contain one of several dominantly-acting point mutations in the Ret receptor tyrosine kinase, resulting in ligand-independent activation of the receptor...
  13. RADIATION-INDUCED THYROID CANCER
    Heinz Ulrich G Weier; Fiscal Year: 2010
    ..Several tumors from this collection aberrantly expressed ret tyrosine kinase transcripts due to a ret/PTC1 or ret/PTC3 chromosomal rearrangements involving chromosome 10...
  14. Quantitative Analysis of RET Receptor Activation and Signaling
    Adrian Whitty; Fiscal Year: 2010
    ..In previous work we have studied RET, a receptor tyrosine kinase that is important in sustaining the survival of a key population of sensory neurons in the peripheral ..
  15. Genes, Environment & Neural Stem Cell Transplantation in the Gut
    PANKAJ PASRICHA; Fiscal Year: 2009
    ..development of the enteric nervous system, glial derived neurotrophic factor or GDNF, and its cognate receptor, RET. Our preliminary data, using CNS-NSC transfected with a constitutively active RET mutant (RET/PTC2) suggest that ..
  16. Genes, Environment & Neural Stem Cell Transplantation in the Gut
    Pankaj J Pasricha; Fiscal Year: 2010
    ..development of the enteric nervous system, glial derived neurotrophic factor or GDNF, and its cognate receptor, RET. Our preliminary data, using CNS-NSC transfected with a constitutively active RET mutant (RET/PTC2) suggest that ..
  17. Denver Prevention Training Center
    Mark Thrun; Fiscal Year: 2007
    The Denver Sexually Transmitted Disease/Human Immunodeficiency Virus (STD/HIV) Prevention Training Center (PTC) Part I will provide clinical training for STD medical and laboratory services throughout Region VIII, including the states of ..
  18. Gdnf and endothelin-3 regulate colorectal enteric nervous system development
    Allan M Goldstein; Fiscal Year: 2010
    ..Defects in the Ret and endothelin receptor B (EdnrB) signaling pathways are required for ENS development and are responsible for many ..
  19. PROXIMAL TUBULE ANGIOTENSINS--HEMOLYTIC UREMIC SYNDROME
    Julie Ingelfinger; Fiscal Year: 2004
    ..This application will focus on the unique role of the PTC tissue RAS, hypothesizing that local angiotensins amplify the effects of Stx in PTC, resulting in further injury...
  20. Molecular Events in Urinary Tract Formation
    Cathy Mendelsohn; Fiscal Year: 2009
    ..we have shown that ureter insertion depends on retinoic acid (RA) and that RA acts by inducing transcription of Ret, a gene that when mutated in humans causes renal malformations and vesico-ureteral reflux...
  21. Human Uremic Persistent Hyperparathyroidism: Functional and Molecular Aspects
    Ogo Egbuna; Fiscal Year: 2007
    ..persistent secondary hyperparathyroidism (PSHPT) would be expected to show alterations in parathyroid cell (PTC) function due to changes in protein/gene expression and/or function influencing proliferation, PTH gene expression ..