The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome

Cancer Research

Volumn 59, Issue 7 SUPPL., 1999, Pages

  Ponder, Bruce A J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

CARCINOGENESIS; CONFERENCE PAPER; CORRELATION FUNCTION; ENZYME SPECIFICITY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MALE; MULTIPLE ENDOCRINE NEOPLASIA; ONCOGENE RET; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SIPPLE SYNDROME; THYROID PARAFOLLICULAR CELL;

ANIMALS; DROSOPHILA PROTEINS; ENZYME ACTIVATION; GENOTYPE; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SYNDROME;

EID: 0033119329     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (78)

1. Takahashi, M., Buma, Y., Iwamoto, T., Iwaguma, Y., Ikeda, H., and Hiai, H. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene, 3: 571-578, 1988.
2. Tahira, T., Ishizaka, Y., Itoh, F., Sugimura, T., and Nagoco, M. Characterisation of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line. Oncogene, 5: 97-102, 1990.
3. Myers, S. M., Eng, C., Ponder, B. A. J., and Mulligan, L. M. Characterisation of ret proto-oncogene 39 splicing variants and polyadenylation sites: a novel C terminus for RET. Oncogene, 11: 2039-2045, 1995.
4. Schneider, R. The human proto-oncogene ret: a communicative cadherin? Trends Biochem. Sci., 17: 468-469, 1992.
5. Takahashi, M., Asai, N., Iwashita, T., Isomura, T., Miyazaki, K., and Matsuyama, M. Characterisation of the RET proto-oncogene products expressed in mouse C cells. Oncogene, 8: 2925-2929, 1993.
6. Trupp, M., Ryden, M., Jornvall, H., Funakoshi, H., Timmusk, T., Arenas, E., and Ibanez, C. F. Peripheral expression and biological activities of GDNF, a new neurotrophic factor for avian and mammalian peripheral neurons. J. Cell Biol., 130: 137-148, 1995.
7. Jing, S., Wen, D., Yu, Y., Holst, P. L., Luo, Y., Fang, M., Tamir, R., Antonio, L., Hu, Z., Cupples, R., Louis, J. C., Hu, S., Altrock, B. W., and Fox, G. M. GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell, 85: 1113-1124, 1996.
8. Treanor, J. J. S., Goodman, L., de Sauvage, F., Stone, D. M., Poulsen, K. T., Beck, C. D., Gray, C., Armanini, M. P., Pollock, R. A., Hefti, F., Phillips, H. S., Goddard, A., Moore, M. W., Buj-Bello, A., Davies, A. M., Asai, N., Takahashi, M., Vandlen, R., Henderson, C. E., and Rosenthal, A. Characterisation of a multicomponent receptor for GDNF. Nature (Lond.), 382: 80-83, 1996.
9. Klein, R. D., Sherman, D., Ho, W-H., Stone, D., Bennet, G. L., Noffat, B., Vandlen, R., Simmons, L., Gu, Q., Hongo, J-A., Devaux, B., Poulsen, K., Armanini, M., Nozaki, C., Asai, N., Goddard, A., Phillips, H., Henderson, C. E., Takahashi, M., and Rosenthal, A. A GPI-linked protein that interacts with RET to form a candidate neurturin receptor. Nature (Lond.), 387: 717-721, 1997.
10. Buj-Bello, A., Adu, J., Pinon, L. G. P., Horton, A., Thompson, J., Rosenthal, A., Chinchetru, M., Buchman, V. L., and Davies, A. M. Neurturin responsiveness requires a GPI-linked receptor and the RET receptor tyrosine kinase. Nature (Lond.), 387: 721-724, 1997.
11. Trupp, M., Raynoschek, C., Belluardo, N., and Ibanez, C. F. Multiple GPI-anchored receptors control GDNF-dependent, and independent activation of the c-ret receptor tyrosine kinase. Mol. Cell. Neurosci., 11: 47-63, 1998.
12. Enokido, Y., de Sauvage, F., Hongo, J-A., Ninkina, N., Rosenthal, A., Buchman, V. L., and Davies, A. M. GFRα-4 and the tyrosine kinase RET form a functional receptor complex for persephin. Curr. Biol., 8: 1019-1022, 1998.
13. Trupp, M., Arenas, E., Fainziller, M., Nilsson, A-S., Sieter, B. A., Grigoriou, M., Kilkenny, C., Salabar, G., Pachnis, V., Arumia, U., Sariola, N., Saarma, M., and Ibanez, C. F. Functional receptor for glial cell line derived neurotrophic factor encoded by the C RET proto-oncogene product. Nature (Lond.), 381: 785-789, 1996.
14. Takahashi, M., and Nakayama, S. The GDNF/neurturin-Ret multicomponent receptor system. Neuropathology, 18: 139-144, 1998.
15. Milbrandt, J. , de Sauvage, F. J., Fahrner, T. J., Baloh, R. H., Leitner, M. L., and Tansey, M. G. Persephin, a novel neurotrophic factor related to GDNF and neurturin. Neuron, 20: 245-253, 1998.
16. Buj-Bello, A., Adu, J., Pinon, L. G. P., Horton, A., Thompson, J., Rosenthal, A., Chinchetru, M., Buchanan, V. L., and Davies, A. M., Neurturin responsiveness requires a GPI-linked receptor plus the RET receptor tyrosine kinase. Nature (Lond.), 387: 721-724, 1997.
17. Trupp, M., Belluardo, N., Funakoshi, H., and Ibanez, C. F. Complementary and overlapping expression of glial cell line-derived neurotrophic factor (GDNF), c-RET proto-oncogene, and GDNF receptor-α indicates multiple mechanisms of trophic actions in the adult rat CNS. J. Neurosci., 17: 3554-3567, 1997.
18. Yu, T., Scully, S., Yu, Y., Fox, G. M., Jing, S., and Zhou, R. Expression of GDNF family receptor components during development: implications in the mechanisms of interaction. J. Neurosci., 18: 4684-4696, 1998.
19. Widenfalk, J., Nosrat, C., Tomac, A., Westphal, H., Hoffer, B., and Olson, L. Neurturin and glial cell line-derived neurotrophic factor receptor-β (GDNFR-β), novel proteins related to GDNF and GDNFR-α with specific cellular patterns of expression suggesting roles in the developing and adult nervous system and in peripheral organs. J. Neurosci., 17: 8506-8519, 1997.
20. Smith, D. P., and Ponder, B. A. J. The MEN 2 syndromes and the role of the ret proto-oncogene. Adv. Cancer Res., 70: 180-222, 1996.
21. Le Douarin, N. The Neural Crest. Cambridge, United Kingdom: Cambridge University Press, 1982.
22. Pachnis, V., Mankoo, B., and Costantini, F. Expression of the c-RET proto-oncogene during mouse embryogenesis. Development (Camb.), 119: 1005-1017, 1993.
23. Avantaggiato, V., Dathan, N. A., Grieco, M., Fabien, N., Lazzaro, D., Simeone, A., Fusco, A., and Santoro, M. Developmental expression of the ret proto-oncogene. Cell Growth Differ., 5: 305-311, 1994.
24. Anderson, D. J. Molecular control of cell fate in the neural crest: the sympathoadrenal lineage. Annu. Rev. Neurosci., 16: 129-158, 1993.
25. Durbec, P. L., Larsson-Blomberg, W. B., Schuchardt, A., Constantini, P., and Pachnis, V. Common origin and developmental dependence on c-RET of subsets of enteric and sympathetic neuroblasts. Development (Camb.), 122: 349-358, 1996.
26. Schuchardt, A., D'Agati, V., Larrson-Blomberg, L., Constantini, F., and Pachnis, V. The c-RET receptor tyrosine kinase gene is required for the development of the kidney and the enteric nervous system. Nature (Lond.), 367: 380-383, 1994.
27. Caillou, B. Histogenesis of medullary thyroid carcinoma. In: C. Calmettes and J. M. Guliana (eds.), Medullary Thyroid Carcinoma, pp. 53-57. London: Colloque INSERM, John Libbey Eurotext, Ltd., 1991.
28. Ljungberg, O., Ericsson, U. B., Bodeson, L., and Thorell, J. A compound follicular parafollicular cell carcinoma of the thyroid. A new tumor entity? Cancer (Phila.), 52: 1053-1061, 1983.
29. Tsuzuki, T., Takahashi, M., Asai, N., Iwashita, T., Matsuyene, M., and Asai, J. Spatial and temporal expression of the ret proto-oncogene product in embryonic, infant and adult rat tissues. Oncogene, 10: 191-198, 1995.
30. Pinon, L. G., Minichiello, L., Klein, R., and Davies, A. M. Timing of neuronal death in trkA, trkB, and trkC mutant embryos reveals developmental changes in sensory neuron dependence on Trk signalling. Development (Camb.), 122: 3255-3261, 1998.
31. Michiels, F. M., Chappuis, S., Caillou, B., Pasini, A., Talbot, M., Monier, R., Lenoir, G. M., Feunteun, J., and Billaud, M. Development of medullary thyroid carcinoma in transgenic mice expressing the ret proto-oncogene altered by a multiple endocrine neoplasia type 2A mutation. Proc. Natl. Acad. Sci. USA, 94: 3330-3335, 1997.
32. Wolfe, H. J., Melvin, K. E. W., and Cervi-Skinner, S. J. C cell hyperplasia preceding medullary thyroid carcinoma. N. Engl. J. Med., 289: 437-441, 1973.
33. Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B. J., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N., and Ponder, B. A. J. Specific mutations of the ret proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet., 6: 70-74, 1994.
34. Easton, D. F., Ponder, M. A., Cummings, T., Gagel, R. F., Hansen, H. H., Reichlin, S., Tashjian, A. H., Jr., Telenius-Berg, M., and Ponder, B. A. J. The clinical and age-at-onset distribution for the MEN 2 syndrome. Am. J. Hum. Genet., 44: 208-215, 1989.
35. Schuffenecker, I., Billaud, M., Calender, A., Chambe, B., Ginet, N., Calmettes, C., and Modigliani, E. ret proto-oncogene mutations in French MEN 2A and FMTC families. Hum. Mol. Genet., 3: 1939-1943, 1994.
36. Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., Zuelebil, M. J., Stonehouse, T. J., Ponder, M. A., Jackson, C. E., Waterfield, M. D., and Ponder, B. A. J. A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10: 509-513, 1995.
37. Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M., Tourniaire, J., Lenoir, G. M., and Romeo, G. ret mutations in exons 13 and 14 of FMTC patients. Oncogene, 10: 2415-2419, 1995.
38. Berndt, I., Reuter, M., Saller, B., FrankRaue, K., Groth, P., Gruisendorf, M., Raue, F., Ritter, M. M., and Hoppner, W. A new hot spot for mutations in the ret proto-oncogenes causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J. Clin. Endocrinol. Metab., 83: 770-774, 1998.
39. Kitamura, Y., Goodfellow, P. J., Shimuka, K., Nagahama, M., Ito, K., Akason, H., Takami, H., Tanaka, S., and Wells, S. A. Novel germline ret proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. Oncogene, 14: 3103-3106, 1997.
40. Hoppner, W., and Ritter, M. M. A duplication of 12 bp in the critical cysteine rich domain of the ret proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. Hum. Mol. Genet., 6: 587-590, 1997.
41. Hofstra, R. M. W., Landsvater, R. M., Ceccherini, I., Stulp, R. P., Stelwagen, T., Luo, Y., Pasini, B., Hoppener, J. M. W., van Amstel, P., and Romeo, G. A mutation in the ret proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature (Lond.), 367: 275-276, 1994.
42. Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., and Donis-Keller, H. Single missense mutation in the tyrosine kinase catalytic domain of the ret proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc. Natl. Acad. Sci. USA, 91: 1579-1583, 1994.
43. Eng, C., Smith, D. P., Mulligan, L. M., Nagai, M. A., Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. F. W., Jackson, C. E., Tunnacliffe, A., and Ponder, B. A. J. Point mutation within the tyrosine kinase domain of the ret proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum. Mol. Genet., 3: 237-241, 1994.
44. Smith, D. P., Houghton, C., and Ponder, B. A. J. Germline mutation of ret codon 883 in two cases of de novo MEN 2B. Oncogene, 15: 1213-1217, 1997.
45. Eng, C., and Mulligan, L. M. Mutations in the ret proto-oncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease. Hum. Mutat., 9: 97-109, 1997.
46. Santoro, M., Carlomagno, F., Romanova, A., Bottaro, D.L. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matskova, B., Kraus, M. H., and Di Fiore, P. P. Activation of RET as a dominant transforming gene by germ line mutations of MEN 2A and MEN 2B. Science (Washington DC), 267: 381-383, 1995.
47. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R. F., van Amstel, H. K. P., Lips, C. J. M., Nishisho, I., Takai, S. I., Marsh, D. J., Robinson, B. G., Frank Raue, K., Raue, F., Xue, F. Y., Noll, W. W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjold, M., Komminoth, P., Hendy, G. N., Gharib, H., Thibodeau, S. N., Lacroix, A., Frilling, A., Ponder, B. A. J., and Mulligan, L. M. The relationship between specific ret proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium. J. Am. Med. Assoc., 276: 1575-1579, 1996.
48. Schuffenecker, I., VirallyMonod, M., Brohet, R., Goldgar, D., Conte-Devolx, C., Leclerc, L., Chabre, O., Boneu, A., Caron, J., Houdent, C., Modigliani, E., Eng, C., Guillausseau, P. J., and Lenoir, G. M. Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the ret proto-oncogene. J. Clin. Endocrinol. Metab., 83: 487-491, 1998.
49. Gardner, E., Mulligan, L. M., Eng, C., Healey, C. S., Kwok, J. A. J., Ponder, M. A., and Ponder, B. A. J. Haplotype analysis of MEN 2 mutations. Hum. Mol. Genet., 3: 1771-1774, 1994.
50. Ito, S., Iwashita, T., Asai, N., Mutakami, H., Iwata, Y., Sobue, G., and Takahashi, M. Biological properties of RET with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma and Hirschsprung's disease phenotype. Cancer Res., 57: 2870-2872, 1997.
51. Hofstra, R. M. W., Fattoruso, O., Quadro, L., Wu, Y., Libroia, A., Varga, U., Colantuoni, V., and Buys, C. H. C. M. A novel point mutation in the intracellular domain of the ret proto-oncogene in a family with medullary thyroid carcinoma. J. Clin. Endocrinol. Metab., 82: 4176-4178, 1997.
52. Carlomagno, F., Melillo, R. M., Visconti, R., Salvatori, G., DeVita, G., Lupoli, G., Yu, Y., Jing, S., Vecchio, G., Fusco, A., and Santoro, M. GDNF differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease. Endocrinology, 139: 3613-3619, 1998.
53. Bongarzone, I., Vigano, E., Alberti, L., Borrello, M. G., Pasini, B., Greco, A., Mondellini, P., Smith, D. P., Ponder, B. A. J., Romeo, G., and Pierotti, M. A. Full activation of MEN 2B mutant RET by an additional MEN 2A mutation or by ligand GDNF stimulation. Oncogene, 16: 2295-2301, 1998.
54. Songyang, Z., Carraway, K. L., III, Eck, M. J., Harrison, S. C., Feldman, R. A., Mohammed, M., Schlessinger, J., Hubbard, S. R., Smith, D. P., Eng, C., Lorenzo, M. J., Ponder, B. A. J., Mayer, B. J., and Cantley, L. C. Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Nature (Lond.), 373: 536-539, 1995.
55. Hanks, S. K., Quinn, A. M., and Hunter, T. The protein kinase family: conserved features and deduced phylogeny of the catalytic domain. Science (Washington DC), 241: 42-52, 1988.
56. Liu, X., Vega, Q. C., Decker, R. A., Plandey, A., Worby, C. A., and Dixon, J. E. Oncogenic ret receptors display different autophosphorylation sites and substrate binding specificities. J. Biol. Chem., 271: 5309-5312, 1996.
57. Grieco, M., Santoro, M., Berlingieri, M. T., Melillo, R. M., Donghi, R., Bonzgarzone, I., Pierotti, M. A., Della Porta, G., Fusco, A., and Vecchio, G. PTC is a novel rearranged form of the RET proto-oncogene and is frequently expressed in vivo in human papillary thyroid carcinomas. Cell, 60: 557-563, 1990.
58. Santoro, M., Dathan, N. A., Berlingieri, M. T., Bongarzone, I., Paulin, C., Grieco, M., Pierotti, M. A., Vecchio, G., and Fusco, A. Molecular characterisation of RET/PTC3, a novel rearranged version of the ret proto-oncogene in a human papillary thyroid carcinoma. Oncogene, 9: 509-516, 1994.
59. Carlomagno, F., Salvatore, G., Cirafici, A. M., DeVita, G., Mellillo, R. M., de Franciscus, V., Billaud, M., Fusco, A., and Santoro, M. The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with multiple endocrine neoplasia type 2 phenotype. Cancer Res., 57: 391-395, 1997.
60. Chappuis-Flament, S., Pasini, A., DeVita, G., Segouffin-Cariou, C., Fusco, A., Attie, T., Lenoir, G. M., Santoro, M., and Billaud, M. Dual effect of the RET receptor of MEN 2 mutations affecting specific extracytoplsmic residues. Oncogene, 17: 2851-2861, 1998.
61. Borrello, M. G., Smith, D. P., Pasini, B., Bongarzone, I., Greco, A., Lorenzo, M. J., Arighi, E., Miranda, C., Eng, C., Alberti, L., Bocciaidi, R., Mondellini, P., Scopsi, L., Romeo, G., Ponder, B. A. J., and Pierotti, M. A. RET activation by germline MEN 2A and MEN 2B mutations. Oncogene, 11: 2419-2427, 1995.
62. Schulz, N., Propst, F., Rosenberg, M. P., Linnoila, R. I., Paules, R. S., Kovatch, R., Ogiso, Y., and Van de Woude, G. Pheochromocytomas and C cell thyroid neoplasms in transgenic c-mos mice: a model for the human multiple endocrine neoplasia type 2 syndrome. Cancer Res., 52: 450-455, 1992.
63. Verdy, M., Weber, A. M., Roy, C. C., Morin, C. L., Cadotte, M., and Brochu, P. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J. Pediatr. Gastroenterol. Nutr., 1: 603-607, 1982.
64. Mulligan, L. M., Eng, C., Attie, T., Lyonnet, S., Marsh, D. J., Hyland, V. J., Robinson, B. G., Frilling, A., Verellen-DuModlin, C., Safar, A., Venter, D. J., Munnich, A., and Ponder, B. A. J. Diverse phenotypes associated with exon 10 mutations of the ret proto-oncogene. Hum. Mol. Genet., 3: 2163-2167, 1994.
65. Decker, R. A., Peacock, M. L., and Watson, P. Hirschsprung disease in MEN 2A: increased spectrum of ret exon genotypes and strong genotype-phenotype correlation. Hum. Mol. Genet., 7: 129-134, 1998.
66. Peretz, H., Luboshitsky, R., Baron, E., Biton, A., Gershoni, R., Usher, S., Grynberg, E., Yakobson, E., Graff, E., and Lapidot, M. Cys 618 Arg mutation in the ret proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung disease suggesting a role for imprinting. Hum. Mutat., 10: 155-159, 1997.
67. Romeo, G., Ceccherini, I., Celli, J., Priolo, M., Betsos, N., Bonardi, G., Seri, M., Yin, L., Lerone, M., Jasonni, V., and Martucciello, G. Association of multiple endocrine neoplasia type 2A and Hirschsprung disease. J. Intern. Med., 243: 515-520, 1998.
68. Angrist, M., Bolk, S., Thiel, B., Puffenberger, E. G., Hofstra, R. M., Buys, C. H. C. M., Cass, D. T., and Chakravarti, A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease. Hum. Mol. Genet., 4: 821-830, 1995.
69. Eng, C., Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F., Neumann, H. P. H., Pfragner, R., Bechmel, A., Lorenzo, M. J., Stonehouse, T. J., Ponder, M. A., and Ponder, B. A. J. Mutation of the ret proto-oncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer, 12: 209-212, 1995.
70. Zedenius, J., Wallin, G., Hamberger, B., Nordenskjold, M., Weber, G., and Larsson, C. Somatic and MEN2A de novo mutations identified in the ret proto-oncogene by screening of sporadic MTCs. Hum. Mol. Genet., 3: 1259-1262, 1994.
71. Shirahama, S., Ogura, K., Takami, H., Itoh, K., Tohsen, T., Miyauchi, A., and Nakamura, Y. Mutational analysis of the ret proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J. Hum. Genet., 43: 101-106, 1998.
72. Komminoth, P., Kunz, E. K., Matias-Guiu, X., Hiort, O., Chrislensen, G., Colomer, A., Rother, J., and Heitz, P. U. Analysis of ret proto-oncogene point mutations distinguishes heritable from non-heritable thyroid carcinomas. Cancer (Phila.), 76: 479-489, 1995.
73. Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., Chew, S. L., O'Riordan, J. L. H., Toledo, S. P. A., Smith, D. P., Maher, E. R., and Ponder, B. A. J. Mutations of the ret proto-oncogene and the Von Hippel Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytoma. J. Med. Genet., 32: 934-937, 1995.
74. Lindor, N. M., Honchel, R., Khosla, S., and Thibodeau, S. N. Mutations in the ret proto-oncogene in sporadic phaeochromocytomas. J. Clin. Endocrinol. Metab., 80: 627-629, 1995.
75. Beldjord, C., Desclaux-Arramond, F., Raffin-Sanson, M., Corvol, J-C., De Keyzer, Y., Luton, J-P., and Bertagna, X. The ret proto-oncogene in sporadic phaeochromocytomas: frequent MEN 2-like mutations and new molecular defects. J. Clin. Endocrinol. Metab., 80: 2063-2068, 1995.
76. Angrist, M., Bolk, S., Halushka, M., Lapchak, P. A., and Chakravarti, A. Germline mutations in glial cell-line derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat. Genet., 14: 341-344, 1996.
77. Salomon, R., Doray, B., Amiel, J., Pelet, A., Attie, T., Bachy, B., Munnich, A., and Lyonnet, S. RET ligand (GDNF, neurturin) mutations in combination with ret mutations: a model of multigenic inheritance in Hischsprung disease. Eur. J. Hum. Genet., 6: P4049, 1998.
78. Doray, B., Salomon, R., Amiel, J., Pelet, A., Touraine, R., Billaud, M., Attie, T., Bachy, B., Munnich, A., and Lyonnet, S. Mutations of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung's disease. Hum. Mol. Genet., 7: 1449-1452, 1998.