{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:17:17Z","timestamp":1789780637654,"version":"4.0.1"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1995,5,1]],"date-time":"1995-05-01T00:00:00Z","timestamp":799286400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1995,5]]},"DOI":"10.1038\/ng0595-35","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T19:59:30Z","timestamp":1092859170000},"page":"35-40","source":"Crossref","is-referenced-by-count":149,"title":["Loss of function effect of RET mutations causing Hirschsprung disease"],"prefix":"10.1038","volume":"10","author":[{"given":"Barbara","family":"Pasini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Borrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Greco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Italia","family":"Bongarzone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piera","family":"Mondellini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisella","family":"Alberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Arighi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Bocciardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Barone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Radice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco A.","family":"Pierotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng059535_CR1","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/0092-8674(85)90115-1","volume":"42","author":"M Takahashi","year":"1985","unstructured":"Takahashi, M., Ritz, J. & Cooper, G.M. Activation of a novel human transforming gene, RET, by DMA rearrangement. Cell 42, 581\u2013588 (1985).","journal-title":"Cell"},{"key":"BFng059535_CR2","first-page":"571","volume":"3","author":"M Takahashi","year":"1988","unstructured":"Takahashi, M., Buma, Y., Iwamoto, T., Inaguma, Y., Ikeda, H. & Hiai, H. Cloning and expression of the RET proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3, 571\u2013578 (1988).","journal-title":"Oncogene"},{"key":"BFng059535_CR3","first-page":"805","volume":"4","author":"M Takahashi","year":"1989","unstructured":"Takahashi, M., Buma, Y. & Hiai, H. Isolation of RET proto-oncogene cDNA with an amino-terminal signal sequence. Oncogene 4, 805\u2013806 (1989).","journal-title":"Oncogene"},{"key":"BFng059535_CR4","doi-asserted-by":"publisher","first-page":"1288","DOI":"10.1006\/bbrc.1993.2392","volume":"196","author":"I Ceccherini","year":"1993","unstructured":"Ceccherini, I. et al. Exon structure and flanking intronic sequences of the human RET proto-oncogene. Biochem. Biophys. Res. Comm. 196, 1288\u20131295 (1993).","journal-title":"Biochem. Biophys. Res. Comm."},{"key":"BFng059535_CR5","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1242\/dev.119.4.1005","volume":"119","author":"V Pachnis","year":"1993","unstructured":"Pachnis, V., Mankoo, B. & Costantini, F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119, 1005\u20131017 (1993).","journal-title":"Development"},{"key":"BFng059535_CR6","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/367380a0","volume":"367","author":"A Schuchardt","year":"1994","unstructured":"Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F. & Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor ret. Nature 367, 380\u2013383 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR7","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1038\/363458a0","volume":"363","author":"LM Mulligan","year":"1993","unstructured":"Mulligan, L.M. et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363, 458\u2013460 (1993).","journal-title":"Nature"},{"key":"BFng059535_CR8","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1093\/hmg\/2.7.851","volume":"2","author":"H Donis-Keller","year":"1993","unstructured":"Donis-Keller, H. et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. molec. Genet. 2, 851\u2013856 (1993).","journal-title":"Hum. molec. Genet."},{"key":"BFng059535_CR9","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1038\/ng0194-70","volume":"6","author":"LM Mulligan","year":"1994","unstructured":"Mulligan, L.M. et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet. 6, 70\u201374 (1994).","journal-title":"Nature Genet."},{"key":"BFng059535_CR10","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/367375a0","volume":"367","author":"RMW Hofstra","year":"1994","unstructured":"Hofstra, R.M.W. et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367, 375\u2013376 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR11","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1073\/pnas.91.4.1579","volume":"91","author":"KM Carlson","year":"1994","unstructured":"Carlson, K.M. et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc. natn. Acad. Sci. U.S.A. 91, 1579\u20131583 (1994).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng059535_CR12","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1093\/hmg\/3.2.237","volume":"3","author":"C Eng","year":"1994","unstructured":"Eng, C. et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum. molec. Genet 3, 237\u2013241 (1994).","journal-title":"Hum. molec. Genet"},{"key":"BFng059535_CR13","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/367377a0","volume":"367","author":"G Romeo","year":"1994","unstructured":"Romeo, G. et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367, 377\u2013378 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR14","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1038\/367378a0","volume":"367","author":"P Edery","year":"1994","unstructured":"Edery, P. et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367, 378\u2013380 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR15","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1159\/000472371","volume":"2","author":"Y Luo","year":"1994","unstructured":"Luo, Y. et al. Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur. J. hum. Genet. 2, 272\u2013280 (1994).","journal-title":"Eur. J. hum. Genet."},{"key":"BFng059535_CR16","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1126\/science.3291115","volume":"241","author":"SK Hanks","year":"1988","unstructured":"Hanks, S.K., Quinn, A.M. & Hunter, T. The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241, 42\u201352 (1988).","journal-title":"Science"},{"key":"BFng059535_CR17","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/328170a0","volume":"328","author":"A Fusco","year":"1987","unstructured":"Fusco, A. et al. A new oncogene in human papillary thyroid carcinomas and their lymphonodal metastases. Nature 328, 170\u2013172 (1987).","journal-title":"Nature"},{"key":"BFng059535_CR18","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/0092-8674(90)90659-3","volume":"60","author":"M Grieco","year":"1990","unstructured":"Grieco, M. et al. PTC is a novel rearranged form of the RET proto-oncogene and is frequently detected in vivo in human papillary thyroid carcinomas. Cell 60, 557\u2013563 (1990).","journal-title":"Cell"},{"key":"BFng059535_CR19","doi-asserted-by":"publisher","first-page":"1616","DOI":"10.1073\/pnas.89.5.1616","volume":"89","author":"MA Pierotti","year":"1992","unstructured":"Pierotti, M.A. et al. Characterization of an inversion on the long arm of chromosome 10 juxtaposing D1OS170 and RET and creating the oncogenic sequence RET\/PTC. Proc. nafn. Acad. Sci. U.S.A. 89, 1616\u20131620 (1992).","journal-title":"Proc. nafn. Acad. Sci. U.S.A."},{"key":"BFng059535_CR20","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1128\/MCB.13.1.358","volume":"13","author":"I Bongarzone","year":"1993","unstructured":"Bongarzone, I. et al. Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of RET tyrosine kinase and the regulatory subunit RI\u03b1 of cyclic AMP-dependent protein kinase A. molec. cell. Biol. 13, 358\u2013366 (1993).","journal-title":"molec. cell. Biol."},{"key":"BFng059535_CR21","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1002\/gcc.2870090404","volume":"9","author":"G Sozzi","year":"1994","unstructured":"Sozzi, G. et al. A t(10;17) translocation creates the RET\/PTC2 chimeric transforming sequence in papillary thyroid carcinoma. Genes Chrom. Cancer 9, 244\u2013250 (1994).","journal-title":"Genes Chrom. Cancer"},{"key":"BFng059535_CR22","first-page":"2979","volume":"54","author":"I Bongarzone","year":"1994","unstructured":"Bongarzone, I. et al. Frequent activation of RET proto-oncogene by fusion with a new activating gene in papillary thyroid carcinomas. Cancer Res. 54, 2979\u20132985 (1994).","journal-title":"Cancer Res."},{"key":"BFng059535_CR23","first-page":"509","volume":"9","author":"M Santoro","year":"1994","unstructured":"Santoro, M. et al. Molecular characterization of RET\/PTC3; a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma. Oncogene 9, 509\u2013516 (1994).","journal-title":"Oncogene"},{"key":"BFng059535_CR24","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/gcc.2870110108","volume":"11","author":"F Minoletti","year":"1994","unstructured":"Minoletti, F. et al. The two genes generating RET\/PTC3 are localized in chromosomal band 10q11.2. Genes Chrom. Cancer 11, 51\u201357 (1994).","journal-title":"Genes Chrom. Cancer"},{"key":"BFng059535_CR25","doi-asserted-by":"crossref","first-page":"2287","DOI":"10.1016\/S0021-9258(18)34919-6","volume":"257","author":"SK Zickj","year":"1982","unstructured":"Zickj, S.K. & Taylor, S.S. Interchian disulfide bonding in the regulatory subunit of cAMP-dependent protein kinase I*. J. biol. Chem. 257, 2287\u20132293 (1982).","journal-title":"J. biol. Chem."},{"key":"BFng059535_CR26","first-page":"539","volume":"4","author":"A Greco","year":"1993","unstructured":"Greco, A. et al. Expression of TRK-T1 oncogene induces differentiation of PC12 cells. Cell Growth Differentiation 4, 539\u2013546 (1993).","journal-title":"Cell Growth Differentiation"},{"key":"BFng059535_CR27","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/367319a0","volume":"367","author":"V Van Heyningen","year":"1994","unstructured":"Van Heyningen, V. One gene \u2013 four syndromes. Nature 367, 319\u2013320 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR28","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1126\/science.7824936","volume":"267","author":"M Santoro","year":"1995","unstructured":"Santoro, M. et al. Germ-line mutations of MEN 2A and MEN 2B activate RET as a dominant transforming gene by different molecular mechanisms. Science 267, 381\u2013383 (1995).","journal-title":"Science"},{"key":"BFng059535_CR29","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1038\/373536a0","volume":"373","author":"Z Songyang","year":"1995","unstructured":"Songyang, Z. et al. Catalytic specificity of protein tyrosine kinases is critical for selective signalling. Nature 373, 536\u2013539 (1995).","journal-title":"Nature"},{"key":"BFng059535_CR30","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1093\/hmg\/3.12.2163","volume":"3","author":"LM Mulligan","year":"1994","unstructured":"Mulligan, L.M. et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum. molec. Genet. 3, 2163\u20132167 (1994).","journal-title":"Hum. molec. Genet."},{"key":"BFng059535_CR31","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1146\/annurev.bi.62.070193.002321","volume":"62","author":"WJ Fantl","year":"1993","unstructured":"Fantl, W.J., Johnson, D.E. & Williams, L.T. Signalling by receptor tyrosine kinases. A. Rev. Biochem. 62, 453\u2013481 (1993).","journal-title":"A. Rev. Biochem."},{"key":"BFng059535_CR32","first-page":"49","volume":"9","author":"P Longati","year":"1994","unstructured":"Longati, P., Bardelli, A., Ponzetto, C., Naldini, L. & Comoglio, P.M. Tyrosine 1234\u20131235 are critical for activation of the tyrosine kinase encoded by the MET proto-oncogene (HGF receptor). Oncogene 9, 49\u201357 (1994).","journal-title":"Oncogene"},{"key":"BFng059535_CR33","first-page":"2925","volume":"8","author":"M Takahashi","year":"1993","unstructured":"Takahashi, M., Asai, N., Iwashita, T., Isomura, T., Miyazaki, K. & Mutsushi, M. Characterization of the RET proto-oncogene product expressed in mouse L cells. Oncogene 8, 2925\u20132929 (1993).","journal-title":"Oncogene"},{"key":"BFng059535_CR34","doi-asserted-by":"crossref","first-page":"14858","DOI":"10.1016\/S0021-9258(18)98552-2","volume":"266","author":"M Ohmichi","year":"1991","unstructured":"Ohmichi, M., Decker, S.J., Pang, L. & Saltiel, A.R., Phospholipase C-\u03b3l directly associates with the p70 TRK oncogene product through its SRC homology domains. J. biol. Chem. 266, 14858\u201314861 (1991).","journal-title":"J. biol. Chem."},{"key":"BFng059535_CR35","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1002\/j.1460-2075.1993.tb05734.x","volume":"12","author":"A Obermeier","year":"1993","unstructured":"Obermeier, A., Halfter, H., Wiesmuller, K.H., Jung, G., Schlessinger, J. & Ullrich, A. Tyrosine 785 is a major determinant of Trk-substrate interaction. EMBO J. 12, 933\u2013941 (1993).","journal-title":"EMBO J."},{"key":"BFng059535_CR36","first-page":"1661","volume":"9","author":"MG Borrello","year":"1994","unstructured":"Borrello, M.G. et al. The oncogenic versions of the RET and TRK tyrosine kinases bind She and Grb2 adaptor proteins. Oncogene 9, 1661\u20131668 (1994).","journal-title":"Oncogene"},{"key":"BFng059535_CR37","first-page":"1691","volume":"9","author":"Z Zhen","year":"1994","unstructured":"Zhen, Z., Giordano, S., Longati, P., Medico, E., Campiglio, M. & Comoglio, P.M. Structural and functional domains critical for constitutive activation of the HGF-receptor (Met). Oncogene 9, 1691\u20131697 (1994).","journal-title":"Oncogene"},{"key":"BFng059535_CR38","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1038\/372746a0","volume":"372","author":"SR Hubbard","year":"1994","unstructured":"Hubbard, S.R., Wei, L., Ellis, L. & Hendrickson, W.A. Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature 372, 746\u2013754 (1994).","journal-title":"Nature"},{"key":"BFng059535_CR39","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/0959-437X(94)90086-8","volume":"4","author":"GA Rodrigues","year":"1994","unstructured":"Rodrigues, G.A. & Park, M. Oncogenic activation of tyrosine kinases. Curr.Opin. Genet. Devel. 4, 15\u201324 (1994).","journal-title":"Curr.Opin. Genet. Devel."},{"key":"BFng059535_CR40","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/0092-8674(77)90333-6","volume":"11","author":"M Wigler","year":"1977","unstructured":"Wigler, M., Silverstein, S., Lee, L.S., Pellicer, A., Cheng, Y. & Axel, R. Transfer of purified herpes virus thymidina kinase gene to cultured mouse cells. Cell 11, 223\u2013232 (1977).","journal-title":"Cell"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0595-35","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0595-35.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0595-35.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:36:00Z","timestamp":1684442160000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0595-35"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,5]]}},"alternative-id":["BFng059535"],"URL":"https:\/\/doi.org\/10.1038\/ng0595-35","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5]]}}}