MeSH Review:
Multiple Endocrine Neoplasia Type 2a
Decker,
Peacock,
Watson,
Edström,
Frisk,
Farnebo,
Höög,
Bäckdahl,
Larsson,
Koch,
Vortmeyer,
Zhuang,
Brouwers,
Pacak,
Eng,
Clayton,
Schuffenecker,
Lenoir,
Cote,
Gagel,
van Amstel,
Lips,
Nishisho,
Takai,
Marsh,
Robinson,
Frank-Raue,
Raue,
Xue,
Noll,
Romei,
Pacini,
Fink,
Niederle,
Zedenius,
Nordenskjöld,
Komminoth,
Hendy,
Mulligan,
Landsvater,
de Wit,
Zewald,
Hofstra,
Buys,
Ploos van Amstel,
Höppener,
Lips,
- Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. Eisenhofer, G., Lenders, J.W., Linehan, W.M., Walther, M.M., Goldstein, D.S., Keiser, H.R. N. Engl. J. Med. (1999)
- RET oncogene. Mak, Y.F., Ponder, B.A. Curr. Opin. Genet. Dev. (1996)
- Docking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascade. Melillo, R.M., Santoro, M., Ong, S.H., Billaud, M., Fusco, A., Hadari, Y.R., Schlessinger, J., Lax, I. Mol. Cell. Biol. (2001)
- Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers. Landsvater, R.M., de Wit, M.J., Zewald, R.A., Hofstra, R.M., Buys, C.H., Ploos van Amstel, H.K., Höppener, J.W., Lips, C.J. Cancer Res. (1996)
- Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B., Gardner, E., Ponder, M.A., Frilling, A., Jackson, C.E., Lehnert, H. Nat. Genet. (1994)
- Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. Lips, C.J., Landsvater, R.M., Höppener, J.W., Geerdink, R.A., Blijham, G., van Veen, J.M., van Gils, A.P., de Wit, M.J., Zewald, R.A., Berends, M.J. N. Engl. J. Med. (1994)
- The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., van Amstel, H.K., Lips, C.J., Nishisho, I., Takai, S.I., Marsh, D.J., Robinson, B.G., Frank-Raue, K., Raue, F., Xue, F., Noll, W.W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjöld, M., Komminoth, P., Hendy, G.N., Mulligan, L.M. JAMA (1996)
- Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. Neumann, H.P., Eng, C., Mulligan, L.M., Glavac, D., Zäuner, I., Ponder, B.A., Crossey, P.A., Maher, E.R., Brauch, H. JAMA (1995)
- Preclinical hemochromatosis in a population on a high-iron-fortified diet. Olsson, K.S., Heedman, P.A., Staugárd, F. JAMA (1978)
- The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Easton, D.F., Ponder, M.A., Cummings, T., Gagel, R.F., Hansen, H.H., Reichlin, S., Tashjian, A.H., Telenius-Berg, M., Ponder, B.A. Am. J. Hum. Genet. (1989)
- Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Mulligan, L.M., Eng, C., Attié, T., Lyonnet, S., Marsh, D.J., Hyland, V.J., Robinson, B.G., Frilling, A., Verellen-Dumoulin, C., Safar, A. Hum. Mol. Genet. (1994)
- Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Decker, R.A., Peacock, M.L., Watson, P. Hum. Mol. Genet. (1998)
- Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Asai, N., Iwashita, T., Matsuyama, M., Takahashi, M. Mol. Cell. Biol. (1995)
- Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. Eisenhofer, G., Walther, M.M., Huynh, T.T., Li, S.T., Bornstein, S.R., Vortmeyer, A., Mannelli, M., Goldstein, D.S., Linehan, W.M., Lenders, J.W., Pacak, K. J. Clin. Endocrinol. Metab. (2001)
- A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Hofstra, R.M., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Höppener, J.W., van Amstel, H.K., Romeo, G. Nature (1994)
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Mulligan, L.M., Kwok, J.B., Healey, C.S., Elsdon, M.J., Eng, C., Gardner, E., Love, D.R., Mole, S.E., Moore, J.K., Papi, L. Nature (1993)
- Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Woodward, E.R., Eng, C., McMahon, R., Voutilainen, R., Affara, N.A., Ponder, B.A., Maher, E.R. Hum. Mol. Genet. (1997)
- Nuclear factor-kappaB is constitutively active in C-cell carcinoma and required for RET-induced transformation. Ludwig, L., Kessler, H., Wagner, M., Hoang-Vu, C., Dralle, H., Adler, G., Böhm, B.O., Schmid, R.M. Cancer Res. (2001)
- The gene causing multiple endocrine neoplasia type 2 (MEN 2). Ponder, B.A. Ann. Med. (1994)
- Subtotal adrenalectomy by the posterior retroperitoneoscopic approach. Walz, M.K., Peitgen, K., Saller, B., Giebler, R.M., Lederbogen, S., Nimtz, K., Mann, K., Eigler, F.W. World journal of surgery. (1998)
- Expression analysis of RET and the GDNF/GFRalpha-1 and NTN/GFRalpha-2 ligand complexes in pheochromocytomas and paragangliomas. Edström, E., Frisk, T., Farnebo, F., Höög, A., Bäckdahl, M., Larsson, C. Int. J. Mol. Med. (2000)
- A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2. Vanhorne, J.B., Andrew, S.D., Harrison, K.J., Taylor, S.A., Thomas, B., McDonald, T.J., Ainsworth, P.J., Mulligan, L.M. Oncogene (2005)
- Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Marx, S.J., Agarwal, S.K., Kester, M.B., Heppner, C., Kim, Y.S., Skarulis, M.C., James, L.A., Goldsmith, P.K., Saggar, S.K., Park, S.Y., Spiegel, A.M., Burns, A.L., Debelenko, L.V., Zhuang, Z., Lubensky, I.A., Liotta, L.A., Emmert-Buck, M.R., Guru, S.C., Manickam, P., Crabtree, J., Erdos, M.R., Collins, F.S., Chandrasekharappa, S.C. Recent Prog. Horm. Res. (1999)
- Enhanced phosphatidylinositol 3-kinase activity and high phosphorylation state of its downstream signalling molecules mediated by ret with the MEN 2B mutation. Murakami, H., Iwashita, T., Asai, N., Shimono, Y., Iwata, Y., Kawai, K., Takahashi, M. Biochem. Biophys. Res. Commun. (1999)
- New insights into the genetics of familial chromaffin cell tumors. Koch, C.A., Vortmeyer, A.O., Zhuang, Z., Brouwers, F.M., Pacak, K. Ann. N. Y. Acad. Sci. (2002)
- Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group-specific loci: use of restriction fragment length polymorphisms extends exclusion region. Kidd, K.K., Kidd, J.R., Castiglione, C.M., Pakstis, A.J., Sparkes, R.S. Genet. Epidemiol. (1986)
- Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. McMahon, R., Mulligan, L.M., Healey, C.S., Payne, S.J., Ponder, M., Ferguson-Smith, M.A., Barton, D.E., Ponder, B.A. Hum. Mol. Genet. (1994)
- Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Xue, F., Yu, H., Maurer, L.H., Memoli, V.A., Nutile-McMenemy, N., Schuster, M.K., Bowden, D.W., Mao, J., Noll, W.W. Hum. Mol. Genet. (1994)
- Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. Kambouris, M., Jackson, C.E., Feldman, G.L. Hum. Mutat. (1996)
- Surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. Herfarth, K.K., Bartsch, D., Doherty, G.M., Wells, S.A., Lairmore, T.C. Surgery (1996)
- A comparison of calcium pentagastrin and TRH tests in screening for medullary carcinoma of the thyroid in MEN IIA. O'Connell, J.E., Dominiczak, A.F., Isles, C.G., McLellan, A.R., Davidson, G., Gray, C.E., Connell, J.M. Clin. Endocrinol. (Oxf) (1990)