Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/loss-of-function-effect-of-ret-mutations-causing-hirschsprung-disease-NKpPpyyBSd
References (45)
-
L. Mulligan, C. Eng, C. Healey, D. Clayton, J. Kwok, E. Gardner, M. Ponder, A. Frilling, C. Jackson, H. Lehnert, H. Neumann, S. Thibodeau, B. Ponder (1994)
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTCNature Genetics, 6
-
M. Takahashi, N. Asai, T. Iwashita, Takeshi Isomura, K. Miyazaki, Mutsushi Matsuyama (1993)
Characterization of the ret proto-oncogene products expressed in mouse L cells.Oncogene, 8 11
-
R. Hofstra, R. Landsvater, I. Ceccherini, R. Stulp, T. Stelwagen, Yin Luo, B. Pasini, J. Hoppener, H. Amstel, G. Romeo, C. Lips, C. Buys (1994)
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinomaNature, 367
-
I. Bongarzone, M. Butti, S. Coronelli, M. Borrello, M. Santoro, P. Mondellini, S. Pilotti, A. Fusco, G. Porta, M. Pierotti (1994)
Frequent activation of ret protooncogene by fusion with a new activating gene in papillary thyroid carcinomas.Cancer research, 54 11
-
A Fusco (1987)
A new oncogene in human papillary thyroid carcinomas and their lymphonodal metastasesNature, 328
-
M. Santoro, Dathan Na, M. Berlingieri, I. Bongarzone, C. Paulin, M. Grieco, M. Pierotti, G. Vecchio, A. Fusco (1994)
Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma.Oncogene, 9 2
-
L. Mulligan, J. Kwok, C. Healey, M. Elsdon, C. Eng, E. Gardner, D. Love, S. Mole, Julie Moore, L. Papi, M. Ponder, H. Telenius, A. Tunnacliffe, B. Ponder (1993)
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2ANature, 363
-
Maria Borrello, G. Pelicci, E. Arighi, L. Filippis, A. Greco, I. Bongarzone, M. Rizzetti, P. Pelicci, M. Pierotti (1994)
The oncogenic versions of the Ret and Trk tyrosine kinases bind Shc and Grb2 adaptor proteins.Oncogene, 9 6
-
P. Edery, S. Lyonnet, L. Mulligan, A. Pelet, E. Dow, L. Abel, S. Holder, C. Nihoul-Fékété, B. Ponder, A. Munnich (1994)
Mutations of the RET proto-oncogene in Hirschsprung's diseaseNature, 367
-
MA Pierotti (1992)
Characterization of an inversion on the long arm of chromosome 10 juxtaposing D1OS170 and RET and creating the oncogenic sequence RET/PTCProc. nafn. Acad. Sci. U.S.A., 89
-
V. Pachnis, B. Mankoo, F. Costantini (1993)
Expression of the c-ret proto-oncogene during mouse embryogenesis.Development, 119 4
-
WJ Fantl, DE Johnson, LT Williams (1993)
Signalling by receptor tyrosine kinasesA. Rev. Biochem., 62
-
Marco PIEROTrIt, Massimo SANTOROt, Robert Jenkins, Gabriella SOZZIt, Italia BONGARZONEt, Michele GRIECOt, Nicoletta MONZINIt, Monica MIOZZOt, Marie Herrmann, Alfredo Fusco, Ian Hay, And PORTAt, Giancarlo Vecchiot (1992)
Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.Proceedings of the National Academy of Sciences of the United States of America, 89
-
G. Rodrigues, M. Park (1994)
Oncogenic activation of tyrosine kinases.Current opinion in genetics & development, 4 1
-
H. Donis-Keller, S. Dou, D. Chi, K. Carlson, K. Toshima, T. Lairmore, J. Howe, J. Moley, J. Moley, P. Goodfellow, S. Wells (1993)
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.Human molecular genetics, 2 7
-
K. Carlson, S. Dou, D. Chi, N. Scavarda, K. Toshima, C. Jackson, S. Wells, P. Goodfellow, H. Donis-Keller (1994)
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, 91
-
I. Ceccherini, R. Bocciardi, Y. Luo, B. Pasini, R. Hofstra, M. Takahashi, G. Romeo (1993)
Exon structure and flanking intronic sequences of the human RET proto-oncogene.Biochemical and biophysical research communications, 196 3
-
M Santoro (1995)
Germ-line mutations of MEN 2A and MEN 2B activate RET as a dominant transforming gene by different molecular mechanismsScience, 267
-
C. Eng, Darrin Smith, L. Mulligan, Maria Nagal, C. Healey, M. Ponder, E. Gardner, G. Scheumann, C. Jackson, Alan Tunnacllffe, B. Ponder (1994)
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.Human molecular genetics, 3 2
-
Masahide Takahashi, Y. Buma, T. Iwamoto, Y. Inaguma, H. Ikeda, H. Hiai (1988)
Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.Oncogene, 3 5
-
Z. Zhen, Silvia Giordano, P. Longati, Enzo Medico, M. Campiglio, P. Comoglio (1994)
Structural and functional domains critical for constitutive activation of the HGF-receptor (Met).Oncogene, 9 6
-
S. Hanks, A. Quinn, T. Hunter (1988)
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains.Science, 241 4861
-
F. Minoletti, M. Butti, S. Coronelli, M. Miozzo, G. Sozzi, S. Pilotti, A. Tunnacliffe, M. Pierotti, I. Bongarzone (1994)
The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2Genes, 11
-
P. Longati, Alberto Bardelli, C. Ponzetto, Luigi Naldini, P. Comoglio (1994)
Tyrosines1234-1235 are critical for activation of the tyrosine kinase encoded by the MET proto-oncogene (HGF receptor).Oncogene, 9 1
-
M Grieco (1990)
PTC is a novel rearranged form of the RET proto-oncogene and is frequently detected in vivo in human papillary thyroid carcinomasCell, 60
-
G. Sozzi, Ltalia Bongarzone, Monica Miouo, M. Borrello, M. Butti, G. Porta, M. Pierotti, S. Pilotti (1994)
A t( 10; 17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinomaGenes, 9
-
M. Ohmichi, S. Decker, L. Pang, A. Saltiel (1991)
Phospholipase C-gamma 1 directly associates with the p70 trk oncogene product through its src homology domains.The Journal of biological chemistry, 266 23
-
Masahide Takahashi, J. Ritz, G. Cooper (1985)
Activation of a novel human transforming gene, ret, by DNA rearrangementCell, 42
-
M. Wigler, S. Silverstein, Lih-Syng Lee, A. Pellicer, Yung‐chi Cheng, R. Axel (1977)
Transfer of purified herpes virus thymidine kinase gene to cultured mouse cellsCell, 11
-
V. Heyningen (1994)
One gene—four syndromesNature, 367
-
A. Fusco, M. Grieco, M. Santoro, M. Berlingieri, S. Pilotti, M. Pierotti, G. Porta, G. Vecchio (1987)
A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastasesNature, 328
-
Masahide Takahashi, Y. Buma, H. Hiai (1989)
Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence.Oncogene, 4 6
-
W. Fantl, Daniel Johnson, L. Williams (1993)
Signalling by receptor tyrosine kinases.Annual review of biochemistry, 62
-
S. Hubbard, Lei Wei, W. Hendrickson (1994)
Crystal structure of the tyrosine kinase domain of the human insulin receptorNature, 372
-
M. Santoro, F. Carlomagno, A. Romano, D. Bottaro, N. Dathan, M. Grieco, A. Fusco, G. Vecchio, B. Matoskova, M. Kraus, P. Fiore (1995)
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2BScience, 267
-
M. Grieco, M. Santoro, M. Berlingieri, R. Melillo, R. Donghi, I. Bongarzone, M. Pierotti, Giuseppe Ports, A. Fusco, Giancarlo Vecchiot (1990)
PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomasCell, 60
-
Axel Obermeierl, Hartmut Halfter, K. Wiesmuller, Gunther Jung, Joseph Schlessinger, Axel Ulrich (1993)
Tyrosine 785 is a major determinant of Trk‐‐substrate interaction.The EMBO Journal, 12
-
I. Bongarzone, N. Monzini, M. Borrello, C. Carcano, G. Ferraresi, E. Arighi, P. Mondellini, G. Porta, M. Pierotti (1993)
Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase AMolecular and Cellular Biology, 13
-
G. Romeo, P. Ronchetto, Yin Luo, V. Barone, M. Seri, I. Ceccherini, B. Pasini, R. Bocciardi, M. Lerone, H. Kääriäinen, G. Martucciello (1994)
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's diseaseNature, 367
-
L. Mulligan, C. Eng, Tanla Attlé, S. Lyonnet, D. Marsh, V. Hyland, B. Robinson, A. Frilling, Christine Verellen-Dumoulln, Anne Safar, D. Venter, Arnold Munnich, B. Ponder (1994)
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.Human molecular genetics, 3 12
-
S. Zick, S. Taylor (1982)
Interchain disulfide bonding in the regulatory subunit of cAMP-dependent protein kinase I.The Journal of biological chemistry, 257 5
-
L. Yin, V. Barone, M. Seri, A. Bolino, R. Bocciardi, I. Ceccherini, B. Pasini, T. Tocco, M. Lerone, S. Cywes, S. Moore, J. Vanderwinden, M. Abramowicz, U. Kristoffersson, L. Larsson, B. Hamel, M. Silengo, G. Martucciello, G. Romeo (1994)
Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung DiseaseEuropean Journal of Human Genetics, 2
-
A. Schuchardt, V. D’Agati, Lena Larsson-Blomberg, F. Costantini, V. Pachnis (1994)
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor RetNature, 367
-
Songyang Zhou, K. Carraway, M. Eck, S. Harrison, R. Feldman, M. Mohammadi, J. Schlessinger, S. Hubbard, Darrin Smith, C. Eng, M. Lorenzo, B. Ponder, B. Mayer, L. Cantley (1995)
Catalytic specificity of protein-tyrosine kinases is critical for selective signallingNature, 373
-
A. Greco, R. Orlandi, C. Mariani, C. Miranda, M. Borrello, A. Cattaneo, S. Pagliardini, M. Pierotti (1993)
Expression of TRK-T1 oncogene induces differentiation of PC12 cells.Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research, 4 7
- Publisher
- Springer Journals
- Copyright
- Copyright © 1995 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/ng0595-35
- Publisher site
- See Article on Publisher Site
Abstract
We have introduced three Hirschsprung (HSCR) mutations localized in the tyrosine kinase domain of RET into the RET/PTC2 chimaeric oncogene which is capable of transforming NIH3T3 mouse fibroblasts and of differentiating pC12 rat pheochromocytoma cells. The three HSCR mutations abolished the biological activity of RET/PTC2 in both cell types and significantly decreased its tyrosine phosphorylation. By contrast, a rare polymorphism in exon 18 does not alter the transforming capability of RET/PTC2 or its tyrosine phosphorylation. These data suggest a loss of function effect of HSCR mutations which might act through a dominant negative mechanism. Our model system is therefore capable of discriminating between causative HSCR mutations and rare polymorphisms in the tyrosine kinase domain of RET.
Journal
Nature Genetics – Springer Journals
Published: May 1, 1995