Gene: [10q112/RET] proto-oncogene tyrosine-protein kinase receptor ret; multiple endocrine neoplasia, type IIA (MEN2A; MIM:171400); amyloid-producing familial medullary thyroid carcinoma (MIM:171400); pheochromocytoma and familial amyloid-producing thyroid carcinoma (PTC; MIM:171400); multiple endocrine neoplasia, type IIB (MEN2B; MIM:162300); ganglioneuromatosis of the alimentary tract (MIM:162300); medullary thyroid carcinoma 1 (MTC1; MIM:155240); Hirschsprung disease 1 (HSCR1; dominant mutation; MIM:142623);


REF

MUT "Angrist M &: Hum Mol Genet, 4, 821-830, 1995
LOC "Angrist M &: Nature Genet, 4, 351-356, 1993
MUT "Attie T &: Hum Mol Genet, 4, 1381-1386, 1995
MUT,ASS "Boccia LM &: Clin Genet, 51, 81-85, 1997
MUT "Bolino A &: Oncogene, 10, 2415-2419, 1995
MUT "Bolk S &: Am J Med Genet, 63, 603-609, 1996
LOC "Bottani A &: CCG, 58, (HGM11), 1982, 1991
LOC "Brooks-Wilson AR &: Genomics, 17, 611-617, 1993
MUT "Carlson KM &: PNAS, 91, 1579-1583, 1994a
FOG "Carlson KM &: AJHG, 55, 1076-1082, 1994b
PAT,PHE,FOG "Carney &: Mayo Clin Proc, 50, 3-10, 1975
MUT "Ceccherini I &: Oncogene, 9, 3025-3029, 1994a
MUT "Ceccherini I &: J Endocrinol Invest, 17, 201-204, 1994b
PAT,PHE,FOG "Cerny &: Surgery, 92, 849-852, 1982
FUN "Chakravarti A: Hum Mol Genet, 5, 303-307, 1996
PAT,PHE,FOG "Cushman P: Am J Med, 32, 352-360, 1962
MUT "Donis-Keller H &: Hum Mol Genet, 2, 851-856, 1993
EXP,PAT "Edery P &: J Med Genet, 31, 602-606, 1994a
MUT "Edery P &: Nature, 367, 378-380, 1994b
MUT "Eng C, Mulligan LM: Hum Mut, 9, 97-109, 1997
FUN,PAT,REV "Eng C: New Engl J Med, 335, 943-951, 1996
MUT "Eng C &: Genes Chromosom Cancer, 12, 209-212, 1995a
MUT "Eng C &: J Med Genet, 32, 934-937, 1995b
MUT "Eng C &: Oncogene, 10, 509-513, 1995c
MUT "Eng C &: Hum Mol Genet, 3, 237-241, 1994
LOC,LIN,MOL "Farrer LA &: AJHG, 40, 329-337, 1987a
LOC,LIN,MOL "Farrer LA &: Cancer Genet Cytogenet, 27, 327-334, 1987b
LOC "Fewtrell MS &: J Med Genet, 31, 325-327, 1994
TER "Gagel &: New Engl J Med, 318, 478-484, 1988
PAT,PHE,FOG "Gagel &: J Pediatr, 101, 941-946, 1982
MUT "Gardner E &: Hum Mol Genet, 3, 1771-1774, 1994
LOC "Gardner E &: Hum Mol Genet, 2, 241-246, 1993
LOC "Gardner E &: CCG, 58, (HGM11), 1949, 1991
PAT,PHE,FOG "Graze K: New Engl J Med, 299, 980-985, 1978
MUT "Hofstra RMW &: J Invest Derm, 107, 215-218, 1996
MUT "Hofstra RMW &: Nature, 367, 375-376, 1994
MUT "Hoppener JWM, Lips CJM: Eur J Clin Invest, 26, 613-624, 1996
MUT "Hoppner W, Ritter MM: Hum Mol Genet, 6, 587-590, 1997
FUN "Ishizaka Y &: BBRC, 168, 402-408, 1990
LOC "Ishizaka Y &: Oncogene, 4, 1519-1521, 1989
MUT,FUN,PAT "Iwashita T &: Hum Mol Genet, 5, 1577-1580, 1996
LIN,MAP "Jackson &: AJHG, 43, A143, 1988
PAT,PHE,FOG "Jackson &: AJHG, 31, 704-710, 1979
PAT,PHE,FOG "Keiser &: Ann Int Med, 78, 561-579, 1973
LOC,LIN,MOL "Kruger SD &: Hum Hered, 36, 6-11, 1986
MAP "Lairmore TC &: PNAS, 90, 492-496, 1993
LIN,LOC "Lairmore TC &: Genomics, 9, N1, 181-192, 1991
PAT,PHE,FOG "Le Marec &: J Genet Hum, 28, 169-174, 1980
PAT,PHE,FOG "Lips &: Am J Med, 70, 1051-1060, 1981
PAT,PHE,FOG "Lips &: Am J Med, 64, 569-578, 1978
LIN,LOC,MUT "Luo Y &: Hum Mol Genet, 2, N11, 1803-1808, 1993
LOC "Lyonnet S &: Nature Genet, 4, 346-350, 1993
LOC,LIN,MAG "Mathew CG &: CCG, 51, (HGM10), 1040, 1989
LOC,LIN,MOL "Mathew CG &: Nature, 328, 527-528, 1987
LOC "Mole SE &: Hum Mol Genet, 2, 247-252, 1993
PAT "Morrison PJ, Nevin NC: J Med Genet, 33, 779-782, 1996
MUT "Mulligan LM &: Nature Genet, 6, 70-74, 1994
MUT "Mulligan LM &: Nature, 363, 458-460, 1993
LOC,LIN,MAG "Myers &: CCG, 51, (HGM10), 1050, 1989
LIN,LOC "Narod SA &: Hum Genet, 86, 529-530, 1991
LOC "Noll &: AJHG, 43, A29, 1988
CLO,SEQ,GEN,MAP "Pasini B &: Oncogene, 11, 1737-1743, 1995
LOC,LIN,MOL "Perrier &: Tissue Antigens, 29, 13-17, 1987
ABR,LOC "Pierotti MA &: PNAS, 89, 1616-1620, 1992
LOC "Radice P &: CCG, 58, (HGM11), 1953, 1991
MUT "Romeo G &: Nature, 367, 377-378, 1994
MUT "Santoro M &: Science, 267, 381-383, 1995
PAT,PHE,FOG "Schimke, Hartmann: Ann Int Med, 63, 1027-1039, 1965
MUT "Schuffenecker I &: AJHG, 60, 233-237, 1997
MUT "Seri M &: Clin Genet, 51, 86-90, 1997a
MUT "Seri M &: Hum Mut, 9, 243-249, 1997b
LOC,LIN,MOL "Simpson NE &: Nature, 328, 528-530, 1987
LOC,LIN,MOL "Simpson NE, Falk: Hum Genet, 60, 157, 1982
PAT,PHE,FOG "Sipple JH: Am J Med, 31, 163-166, 1961
COM,LIN "Smith M, Simpson: CCG, 51, (HGM10), 202-225, 1989
LOC,LIN,MOL "Sobol H &: Lancet, 1, 62, 1988
LOC "Sozzi G &: Oncogene, 6, 339-342, 1991
PAT,PHE,FOG "Steiner &: Medicine, 47, 371-409, 1968
CLO "Takahashi M &: Mol Cell Biol, 8, 1853-1856, 1988
PAT,PHE,FOG "Urbanski FX: J Chron Dis, 20, 627-636, 1967
REV "van Heyningen V: Nature, 367, 319-320, 1994
PAT,PHE,FOG "Vasen &: Am J Med, 83, 847-852, 1987
LOC,LIN,MAG "Wu JS &: AJHG, 46, 624-630, 1990
MUT "Xue F &: Hum Mol Genet, 3, 635-638, 1994
PAT,PHE,FOG "Zatterale &: J Med Genet, 21, 108-111, 1984

SWI

SWISSPROT: P07949

KEY

onc, horm, git

CLA

coding, basic

LOC

10 q11.2

MIM

MIM: 164761

EZN

ENZYME: 2.7.1.112

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  • Gene: [05p1/GDNF] glial cell line derived neurotrophic factor; Hirschsprung disease (MIM:142623); [HSCR ]
  • РЕЦЕПТОРЫ НЕЙРОТРОФИНОВ (Trk)
  • RET белки