-
1
-
-
0035902180
-
Oncogenic kinase signalling
-
Blume-Jensen P, Hunter T. Oncogenic kinase signalling. Nature. 2001;411:355-65.
-
(2001)
Nature
, vol.411
, pp. 355-365
-
-
Blume-Jensen, P.1
Hunter, T.2
-
2
-
-
77953896432
-
Cell signaling by receptor tyrosine kinases
-
Lemmon MA, Schlessinger J. Cell signaling by receptor tyrosine kinases. Cell. 2010;141:1117-34.
-
(2010)
Cell
, vol.141
, pp. 1117-1134
-
-
Lemmon, M.A.1
Schlessinger, J.2
-
4
-
-
84867718489
-
Stem cell factor receptor/c-Kit: from basic science to clinical implications
-
Lennartsson J, Ronnstrand L. Stem cell factor receptor/c-Kit: from basic science to clinical implications. Physiol Rev. 2012;92:1619-49.
-
(2012)
Physiol Rev
, vol.92
, pp. 1619-1649
-
-
Lennartsson, J.1
Ronnstrand, L.2
-
5
-
-
84907824058
-
Imatinib: a breakthrough of targeted therapy in cancer
-
Iqbal N, Iqbal N. Imatinib: a breakthrough of targeted therapy in cancer. Chemother Res Pract. 2014;2014:357027.
-
(2014)
Chemother Res Pract
, vol.2014
, pp. 357027
-
-
Iqbal, N.1
Iqbal, N.2
-
6
-
-
0036795899
-
Approval summary: imatinib mesylate in the treatment of metastatic and/or unresectable malignant gastrointestinal stromal tumors
-
Dagher R, Cohen M, Williams G, Rothmann M, Gobburu J, Robbie G, Rahman A, Chen G, Staten A, Griebel D, Pazdur R. Approval summary: imatinib mesylate in the treatment of metastatic and/or unresectable malignant gastrointestinal stromal tumors. Clin Cancer Res. 2002;8:3034-8.
-
(2002)
Clin Cancer Res
, vol.8
, pp. 3034-3038
-
-
Dagher, R.1
Cohen, M.2
Williams, G.3
Rothmann, M.4
Gobburu, J.5
Robbie, G.6
Rahman, A.7
Chen, G.8
Staten, A.9
Griebel, D.10
Pazdur, R.11
-
7
-
-
33947423448
-
Approval summary: sunitinib for the treatment of imatinib refractory or intolerant gastrointestinal stromal tumors and advanced renal cell carcinoma
-
Goodman VL, Rock EP, Dagher R, Ramchandani RP, Abraham S, Gobburu JV, Booth BP, Verbois SL, Morse DE, Liang CY, Chidambaram N, Jiang JX, Tang S, Mahjoob K, Justice R, Pazdur R. Approval summary: sunitinib for the treatment of imatinib refractory or intolerant gastrointestinal stromal tumors and advanced renal cell carcinoma. Clin Cancer Res. 2007;13:1367-73.
-
(2007)
Clin Cancer Res
, vol.13
, pp. 1367-1373
-
-
Goodman, V.L.1
Rock, E.P.2
Dagher, R.3
Ramchandani, R.P.4
Abraham, S.5
Gobburu, J.V.6
Booth, B.P.7
Verbois, S.L.8
Morse, D.E.9
Liang, C.Y.10
Chidambaram, N.11
Jiang, J.X.12
Tang, S.13
Mahjoob, K.14
Justice, R.15
Pazdur, R.16
-
9
-
-
0028856070
-
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder
-
Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA. 1995;92:10560-4.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 10560-10564
-
-
Nagata, H.1
Worobec, A.S.2
Oh, C.K.3
Chowdhury, B.A.4
Tannenbaum, S.5
Suzuki, Y.6
Metcalfe, D.D.7
-
10
-
-
0031791026
-
A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors
-
Nakahara M, Isozaki K, Hirota S, Miyagawa J, Hase-Sawada N, Taniguchi M, Nishida T, Kanayama S, Kitamura Y, Shinomura Y, Matsuzawa Y. A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology. 1998;115:1090-5.
-
(1998)
Gastroenterology
, vol.115
, pp. 1090-1095
-
-
Nakahara, M.1
Isozaki, K.2
Hirota, S.3
Miyagawa, J.4
Hase-Sawada, N.5
Taniguchi, M.6
Nishida, T.7
Kanayama, S.8
Kitamura, Y.9
Shinomura, Y.10
Matsuzawa, Y.11
-
11
-
-
0035174752
-
Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene
-
Maeyama H, Hidaka E, Ota H, Minami S, Kajiyama M, Kuraishi A, Mori H, Matsuda Y, Wada S, Sodeyama H, Nakata S, Kawamura N, Hata S, Watanabe M, Iijima Y, Katsuyama T. Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene. Gastroenterology. 2001;120:210-5.
-
(2001)
Gastroenterology
, vol.120
, pp. 210-215
-
-
Maeyama, H.1
Hidaka, E.2
Ota, H.3
Minami, S.4
Kajiyama, M.5
Kuraishi, A.6
Mori, H.7
Matsuda, Y.8
Wada, S.9
Sodeyama, H.10
Nakata, S.11
Kawamura, N.12
Hata, S.13
Watanabe, M.14
Iijima, Y.15
Katsuyama, T.16
-
12
-
-
19444371824
-
A germline mutation in KIT in familial diffuse cutaneous mastocytosis
-
Tang X, Boxer M, Drummond A, Ogston P, Hodgins M, Burden AD. A germline mutation in KIT in familial diffuse cutaneous mastocytosis. J Med Genet. 2004;41:e88.
-
(2004)
J Med Genet
, vol.41
-
-
Tang, X.1
Boxer, M.2
Drummond, A.3
Ogston, P.4
Hodgins, M.5
Burden, A.D.6
-
13
-
-
0027967089
-
Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestine
-
Ward SM, Burns AJ, Torihashi S, Sanders KM. Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestine. J Physiol. 1994;480(Pt 1):91-7.
-
(1994)
J Physiol
, vol.480
, pp. 91-97
-
-
Ward, S.M.1
Burns, A.J.2
Torihashi, S.3
Sanders, K.M.4
-
14
-
-
0024687135
-
Expression of c-kit gene products in known cellular targets of W mutations in normal and W mutant mice-evidence for an impaired c-kit kinase in mutant mice
-
Nocka K, Majumder S, Chabot B, Ray P, Cervone M, Bernstein A, Besmer P. Expression of c-kit gene products in known cellular targets of W mutations in normal and W mutant mice-evidence for an impaired c-kit kinase in mutant mice. Genes Dev. 1989;3:816-26.
-
(1989)
Genes Dev
, vol.3
, pp. 816-826
-
-
Nocka, K.1
Majumder, S.2
Chabot, B.3
Ray, P.4
Cervone, M.5
Bernstein, A.6
Besmer, P.7
-
15
-
-
2742529418
-
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand
-
Yarden Y, Kuang WJ, Yang-Feng T, Coussens L, Munemitsu S, Dull TJ, Chen E, Schlessinger J, Francke U, Ullrich A. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J. 1987;6:3341-51.
-
(1987)
EMBO J
, vol.6
, pp. 3341-3351
-
-
Yarden, Y.1
Kuang, W.J.2
Yang-Feng, T.3
Coussens, L.4
Munemitsu, S.5
Dull, T.J.6
Chen, E.7
Schlessinger, J.8
Francke, U.9
Ullrich, A.10
-
16
-
-
0025001894
-
Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor
-
Zsebo KM, Williams DA, Geissler EN, Broudy VC, Martin FH, Atkins HL, Hsu RY, Birkett NC, Okino KH, Murdock DC, et al. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell. 1990;63:213-24.
-
(1990)
Cell
, vol.63
, pp. 213-224
-
-
Zsebo, K.M.1
Williams, D.A.2
Geissler, E.N.3
Broudy, V.C.4
Martin, F.H.5
Atkins, H.L.6
Hsu, R.Y.7
Birkett, N.C.8
Okino, K.H.9
Murdock, D.C.10
-
17
-
-
0025065459
-
Primary structure and functional expression of rat and human stem cell factor DNAs
-
Martin FH, Suggs SV, Langley KE, Lu HS, Ting J, Okino KH, Morris CF, McNiece IK, Jacobsen FW, Mendiaz EA, et al. Primary structure and functional expression of rat and human stem cell factor DNAs. Cell. 1990;63:203-11.
-
(1990)
Cell
, vol.63
, pp. 203-211
-
-
Martin, F.H.1
Suggs, S.V.2
Langley, K.E.3
Lu, H.S.4
Ting, J.5
Okino, K.H.6
Morris, C.F.7
McNiece, I.K.8
Jacobsen, F.W.9
Mendiaz, E.A.10
-
18
-
-
0033619142
-
Phosphorylation of Shc by Src family kinases is necessary for stem cell factor receptor/c-kit mediated activation of the Ras/MAP kinase pathway and c-fos induction
-
Lennartsson J, Blume-Jensen P, Hermanson M, Ponten E, Carlberg M, Ronnstrand L. Phosphorylation of Shc by Src family kinases is necessary for stem cell factor receptor/c-kit mediated activation of the Ras/MAP kinase pathway and c-fos induction. Oncogene. 1999;18:5546-53.
-
(1999)
Oncogene
, vol.18
, pp. 5546-5553
-
-
Lennartsson, J.1
Blume-Jensen, P.2
Hermanson, M.3
Ponten, E.4
Carlberg, M.5
Ronnstrand, L.6
-
19
-
-
0037847347
-
Identification of Tyr-703 and Tyr-936 as the primary association sites for Grb2 and Grb7 in the c-Kit/stem cell factor receptor
-
Thommes K, Lennartsson J, Carlberg M, Ronnstrand L. Identification of Tyr-703 and Tyr-936 as the primary association sites for Grb2 and Grb7 in the c-Kit/stem cell factor receptor. Biochem J. 1999;341(Pt 1):211-6.
-
(1999)
Biochem J
, vol.341
, pp. 211-216
-
-
Thommes, K.1
Lennartsson, J.2
Carlberg, M.3
Ronnstrand, L.4
-
20
-
-
0028128692
-
Tyrosine residue 719 of the c-kit receptor is essential for binding of the P85 subunit of phosphatidylinositol (PI) 3-kinase and for c-kit-associated PI 3-kinase activity in COS-1 cells
-
Serve H, Hsu YC, Besmer P. Tyrosine residue 719 of the c-kit receptor is essential for binding of the P85 subunit of phosphatidylinositol (PI) 3-kinase and for c-kit-associated PI 3-kinase activity in COS-1 cells. J Biol Chem. 1994;269:6026-30.
-
(1994)
J Biol Chem
, vol.269
, pp. 6026-6030
-
-
Serve, H.1
Hsu, Y.C.2
Besmer, P.3
-
21
-
-
0029034468
-
Identification of the major phosphorylation sites for protein kinase C in kit/stem cell factor receptor in vitro and in intact cells
-
Blume-Jensen P, Wernstedt C, Heldin CH, Ronnstrand L. Identification of the major phosphorylation sites for protein kinase C in kit/stem cell factor receptor in vitro and in intact cells. J Biol Chem. 1995;270:14192-200.
-
(1995)
J Biol Chem
, vol.270
, pp. 14192-14200
-
-
Blume-Jensen, P.1
Wernstedt, C.2
Heldin, C.H.3
Ronnstrand, L.4
-
22
-
-
0038825595
-
Identification of Tyr900 in the kinase domain of c-Kit as a Src-dependent phosphorylation site mediating interaction with c-Crk
-
Lennartsson J, Wernstedt C, Engstrom U, Hellman U, Ronnstrand L. Identification of Tyr900 in the kinase domain of c-Kit as a Src-dependent phosphorylation site mediating interaction with c-Crk. Exp Cell Res. 2003;288:110-8.
-
(2003)
Exp Cell Res
, vol.288
, pp. 110-118
-
-
Lennartsson, J.1
Wernstedt, C.2
Engstrom, U.3
Hellman, U.4
Ronnstrand, L.5
-
23
-
-
0034548829
-
Differential stimulation of c-Kit mutants by membrane-bound and soluble Steel Factor correlates with leukemic potential
-
Gommerman JL, Sittaro D, Klebasz NZ, Williams DA, Berger SA. Differential stimulation of c-Kit mutants by membrane-bound and soluble Steel Factor correlates with leukemic potential. Blood. 2000;96:3734-42.
-
(2000)
Blood
, vol.96
, pp. 3734-3742
-
-
Gommerman, J.L.1
Sittaro, D.2
Klebasz, N.Z.3
Williams, D.A.4
Berger, S.A.5
-
24
-
-
0030833445
-
Lyn associates with the juxtamembrane region of c-Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells
-
Linnekin D, DeBerry CS, Mou S. Lyn associates with the juxtamembrane region of c-Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells. J Biol Chem. 1997;272:27450-5.
-
(1997)
J Biol Chem
, vol.272
, pp. 27450-27455
-
-
Linnekin, D.1
DeBerry, C.S.2
Mou, S.3
-
25
-
-
0037646534
-
Src family kinases are involved in the differential signaling from two splice forms of c-Kit
-
Voytyuk O, Lennartsson J, Mogi A, Caruana G, Courtneidge S, Ashman LK, Ronnstrand L. Src family kinases are involved in the differential signaling from two splice forms of c-Kit. J Biol Chem. 2003;278:9159-66.
-
(2003)
J Biol Chem
, vol.278
, pp. 9159-9166
-
-
Voytyuk, O.1
Lennartsson, J.2
Mogi, A.3
Caruana, G.4
Courtneidge, S.5
Ashman, L.K.6
Ronnstrand, L.7
-
26
-
-
0028895383
-
Differential roles of PI3-kinase and Kit tyrosine 821 in Kit receptor-mediated proliferation, survival and cell adhesion in mast cells
-
Serve H, Yee NS, Stella G, Sepp-Lorenzino L, Tan JC, Besmer P. Differential roles of PI3-kinase and Kit tyrosine 821 in Kit receptor-mediated proliferation, survival and cell adhesion in mast cells. EMBO J. 1995;14:473-83.
-
(1995)
EMBO J
, vol.14
, pp. 473-483
-
-
Serve, H.1
Yee, N.S.2
Stella, G.3
Sepp-Lorenzino, L.4
Tan, J.C.5
Besmer, P.6
-
27
-
-
55549092077
-
Gab2 is involved in differential phosphoinositide 3-kinase signaling by two splice forms of c-Kit
-
Sun J, Pedersen M, Ronnstrand L. Gab2 is involved in differential phosphoinositide 3-kinase signaling by two splice forms of c-Kit. J Biol Chem. 2008;283:27444-51.
-
(2008)
J Biol Chem
, vol.283
, pp. 27444-27451
-
-
Sun, J.1
Pedersen, M.2
Ronnstrand, L.3
-
28
-
-
33749390318
-
Direct binding of Cbl to Tyr568 and Tyr936 of the stem cell factor receptor/c-Kit is required for ligand-induced ubiquitination, internalization and degradation
-
Masson K, Heiss E, Band H, Ronnstrand L. Direct binding of Cbl to Tyr568 and Tyr936 of the stem cell factor receptor/c-Kit is required for ligand-induced ubiquitination, internalization and degradation. Biochem J. 2006;399:59-67.
-
(2006)
Biochem J
, vol.399
, pp. 59-67
-
-
Masson, K.1
Heiss, E.2
Band, H.3
Ronnstrand, L.4
-
29
-
-
35248849299
-
Grb2 mediates negative regulation of stem cell factor receptor/c-Kit signaling by recruitment of Cbl
-
Sun J, Pedersen M, Bengtsson S, Ronnstrand L. Grb2 mediates negative regulation of stem cell factor receptor/c-Kit signaling by recruitment of Cbl. Exp Cell Res. 2007;313:3935-42.
-
(2007)
Exp Cell Res
, vol.313
, pp. 3935-3942
-
-
Sun, J.1
Pedersen, M.2
Bengtsson, S.3
Ronnstrand, L.4
-
30
-
-
66449128486
-
The D816V mutation of c-Kit circumvents a requirement for Src family kinases in c-Kit signal transduction
-
Sun J, Pedersen M, Ronnstrand L. The D816V mutation of c-Kit circumvents a requirement for Src family kinases in c-Kit signal transduction. J Biol Chem. 2009;284:11039-47.
-
(2009)
J Biol Chem
, vol.284
, pp. 11039-11047
-
-
Sun, J.1
Pedersen, M.2
Ronnstrand, L.3
-
31
-
-
58249134128
-
The c-Kit/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit
-
Pedersen M, Ronnstrand L, Sun J. The c-Kit/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit. Cell Signal. 2009;21:413-8.
-
(2009)
Cell Signal
, vol.21
, pp. 413-418
-
-
Pedersen, M.1
Ronnstrand, L.2
Sun, J.3
-
32
-
-
85027922661
-
The PI3-kinase isoform p110delta is essential for cell transformation induced by the D816V mutant of c-Kit in a lipid-kinase-independent manner
-
Sun J, Mohlin S, Lundby A, Kazi JU, Hellman U, Pahlman S, Olsen JV, Ronnstrand L. The PI3-kinase isoform p110delta is essential for cell transformation induced by the D816V mutant of c-Kit in a lipid-kinase-independent manner. Oncogene. 2014;33:5360-9.
-
(2014)
Oncogene
, vol.33
, pp. 5360-5369
-
-
Sun, J.1
Mohlin, S.2
Lundby, A.3
Kazi, J.U.4
Hellman, U.5
Pahlman, S.6
Olsen, J.V.7
Ronnstrand, L.8
-
33
-
-
84894031893
-
Src-like-adaptor protein (SLAP) differentially regulates normal and oncogenic c-Kit signaling
-
Kazi JU, Agarwal S, Sun J, Bracco E, Ronnstrand L. Src-like-adaptor protein (SLAP) differentially regulates normal and oncogenic c-Kit signaling. J Cell Sci. 2014;127:653-62.
-
(2014)
J Cell Sci
, vol.127
, pp. 653-662
-
-
Kazi, J.U.1
Agarwal, S.2
Sun, J.3
Bracco, E.4
Ronnstrand, L.5
-
34
-
-
84945480952
-
PI3 kinase is indispensable for oncogenic transformation by the V560D mutant of c-Kit in a kinase-independent manner
-
Lindblad O, Kazi JU, Ronnstrand L, Sun J. PI3 kinase is indispensable for oncogenic transformation by the V560D mutant of c-Kit in a kinase-independent manner. Cell Mol Life Sci. 2015;72:4399-407.
-
(2015)
Cell Mol Life Sci
, vol.72
, pp. 4399-4407
-
-
Lindblad, O.1
Kazi, J.U.2
Ronnstrand, L.3
Sun, J.4
-
35
-
-
0036566548
-
Critical roles of c-Kit tyrosine residues 567 and 719 in stem cell factor-induced chemotaxis: contribution of src family kinase and PI3-kinase on calcium mobilization and cell migration
-
Ueda S, Mizuki M, Ikeda H, Tsujimura T, Matsumura I, Nakano K, Daino H, Honda Zi Z, Sonoyama J, Shibayama H, Sugahara H, Machii T, Kanakura Y. Critical roles of c-Kit tyrosine residues 567 and 719 in stem cell factor-induced chemotaxis: contribution of src family kinase and PI3-kinase on calcium mobilization and cell migration. Blood. 2002;99:3342-9.
-
(2002)
Blood
, vol.99
, pp. 3342-3349
-
-
Ueda, S.1
Mizuki, M.2
Ikeda, H.3
Tsujimura, T.4
Matsumura, I.5
Nakano, K.6
Daino, H.7
Honda Zi, Z.8
Sonoyama, J.9
Shibayama, H.10
Sugahara, H.11
Machii, T.12
Kanakura, Y.13
-
36
-
-
0035469886
-
Phosphatidylinositol 3 kinase contributes to the transformation of hematopoietic cells by the D816V c-Kit mutant
-
Chian R, Young S, Danilkovitch-Miagkova A, Ronnstrand L, Leonard E, Ferrao P, Ashman L, Linnekin D. Phosphatidylinositol 3 kinase contributes to the transformation of hematopoietic cells by the D816V c-Kit mutant. Blood. 2001;98:1365-73.
-
(2001)
Blood
, vol.98
, pp. 1365-1373
-
-
Chian, R.1
Young, S.2
Danilkovitch-Miagkova, A.3
Ronnstrand, L.4
Leonard, E.5
Ferrao, P.6
Ashman, L.7
Linnekin, D.8
-
37
-
-
33749368009
-
KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients
-
Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, Aldanondo I, Sanchez L, Dominguez M, Botana LM, Sanchez-Jimenez F, Sotlar K, Almeida J, Escribano L, Orfao A. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108:2366-72.
-
(2006)
Blood
, vol.108
, pp. 2366-2372
-
-
Garcia-Montero, A.C.1
Jara-Acevedo, M.2
Teodosio, C.3
Sanchez, M.L.4
Nunez, R.5
Prados, A.6
Aldanondo, I.7
Sanchez, L.8
Dominguez, M.9
Botana, L.M.10
Sanchez-Jimenez, F.11
Sotlar, K.12
Almeida, J.13
Escribano, L.14
Orfao, A.15
-
38
-
-
0035010149
-
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis
-
Fritsche-Polanz R, Jordan JH, Feix A, Sperr WR, Sunder-Plassmann G, Valent P, Fodinger M. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br J Haematol. 2001;113:357-64.
-
(2001)
Br J Haematol
, vol.113
, pp. 357-364
-
-
Fritsche-Polanz, R.1
Jordan, J.H.2
Feix, A.3
Sperr, W.R.4
Sunder-Plassmann, G.5
Valent, P.6
Fodinger, M.7
-
39
-
-
84896535727
-
ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases
-
Damaj G, Joris M, Chandesris O, Hanssens K, Soucie E, Canioni D, Kolb B, Durieu I, Gyan E, Livideanu C, Cheze S, Diouf M, Garidi R, Georgin-Lavialle S, Asnafi V, Lhermitte L, Lavigne C, Launay D, Arock M, Lortholary O, Dubreuil P, Hermine O. ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. PLoS One. 2014;9:e85362.
-
(2014)
PLoS One
, vol.9
-
-
Damaj, G.1
Joris, M.2
Chandesris, O.3
Hanssens, K.4
Soucie, E.5
Canioni, D.6
Kolb, B.7
Durieu, I.8
Gyan, E.9
Livideanu, C.10
Cheze, S.11
Diouf, M.12
Garidi, R.13
Georgin-Lavialle, S.14
Asnafi, V.15
Lhermitte, L.16
Lavigne, C.17
Launay, D.18
Arock, M.19
Lortholary, O.20
Dubreuil, P.21
Hermine, O.22
more..
-
40
-
-
13044305857
-
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis
-
Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D, Ma Y. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA. 1999;96:1609-14.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 1609-1614
-
-
Longley, B.J.1
Metcalfe, D.D.2
Tharp, M.3
Wang, X.4
Tyrrell, L.5
Lu, S.Z.6
Heitjan, D.7
Ma, Y.8
-
41
-
-
0344643427
-
One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes
-
Sotlar K, Escribano L, Landt O, Mohrle S, Herrero S, Torrelo A, Lass U, Horny HP, Bultmann B. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol. 2003;162:737-46.
-
(2003)
Am J Pathol
, vol.162
, pp. 737-746
-
-
Sotlar, K.1
Escribano, L.2
Landt, O.3
Mohrle, S.4
Herrero, S.5
Torrelo, A.6
Lass, U.7
Horny, H.P.8
Bultmann, B.9
-
42
-
-
0033749308
-
Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His
-
Pullarkat VA, Pullarkat ST, Calverley DC, Brynes RK. Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His. Am J Hematol. 2000;65:307-9.
-
(2000)
Am J Hematol
, vol.65
, pp. 307-309
-
-
Pullarkat, V.A.1
Pullarkat, S.T.2
Calverley, D.C.3
Brynes, R.K.4
-
43
-
-
0031039992
-
A new c-kit mutation in a case of aggressive mast cell disease
-
Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tulliez M. A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol. 1997;96:374-6.
-
(1997)
Br J Haematol
, vol.96
, pp. 374-376
-
-
Pignon, J.M.1
Giraudier, S.2
Duquesnoy, P.3
Jouault, H.4
Imbert, M.5
Vainchenker, W.6
Vernant, J.P.7
Tulliez, M.8
-
44
-
-
1842579440
-
A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib
-
Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103:3222-5.
-
(2004)
Blood
, vol.103
, pp. 3222-3225
-
-
Akin, C.1
Fumo, G.2
Yavuz, A.S.3
Lipsky, P.E.4
Neckers, L.5
Metcalfe, D.D.6
-
45
-
-
33947520803
-
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation
-
Nakagomi N, Hirota S. Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. Lab Invest. 2007;87:365-71.
-
(2007)
Lab Invest
, vol.87
, pp. 365-371
-
-
Nakagomi, N.1
Hirota, S.2
-
46
-
-
53249085888
-
Complementing mutations in core binding factor leukemias: from mouse models to clinical applications
-
Muller AM, Duque J, Shizuru JA, Lubbert M. Complementing mutations in core binding factor leukemias: from mouse models to clinical applications. Oncogene. 2008;27:5759-73.
-
(2008)
Oncogene
, vol.27
, pp. 5759-5773
-
-
Muller, A.M.1
Duque, J.2
Shizuru, J.A.3
Lubbert, M.4
-
47
-
-
84960091691
-
Global epidemiology of gastrointestinal stromal tumours (GIST): a systematic review of population-based cohort studies
-
Soreide K, Sandvik OM, Soreide JA, Giljaca V, Jureckova A, Bulusu VR. Global epidemiology of gastrointestinal stromal tumours (GIST): a systematic review of population-based cohort studies. Cancer Epidemiol. 2016;40:39-46.
-
(2016)
Cancer Epidemiol
, vol.40
, pp. 39-46
-
-
Soreide, K.1
Sandvik, O.M.2
Soreide, J.A.3
Giljaca, V.4
Jureckova, A.5
Bulusu, V.R.6
-
48
-
-
34250024319
-
Recent advances in the understanding of mastocytosis: the role of KIT mutations
-
Orfao A, Garcia-Montero AC, Sanchez L, Escribano L, REMA. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12-30.
-
(2007)
Br J Haematol
, vol.138
, pp. 12-30
-
-
Orfao, A.1
Garcia-Montero, A.C.2
Sanchez, L.3
Escribano, L.4
-
49
-
-
84941556301
-
Clinicopathological significance of c-KIT mutation in gastrointestinal stromal tumors: a systematic review and meta-analysis
-
Yan L, Zou L, Zhao W, Wang Y, Liu B, Yao H, Yu H. Clinicopathological significance of c-KIT mutation in gastrointestinal stromal tumors: a systematic review and meta-analysis. Sci Rep. 2015;5:13718.
-
(2015)
Sci Rep
, vol.5
, pp. 13718
-
-
Yan, L.1
Zou, L.2
Zhao, W.3
Wang, Y.4
Liu, B.5
Yao, H.6
Yu, H.7
-
50
-
-
20844460619
-
A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors
-
Chen LL, Trent JC, Wu EF, Fuller GN, Ramdas L, Zhang W, Raymond AK, Prieto VG, Oyedeji CO, Hunt KK, Pollock RE, Feig BW, Hayes KJ, Choi H, Macapinlac HA, Hittelman W, Velasco MA, Patel S, Burgess MA, Benjamin RS, Frazier ML. A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors. Cancer Res. 2004;64:5913-9.
-
(2004)
Cancer Res
, vol.64
, pp. 5913-5919
-
-
Chen, L.L.1
Trent, J.C.2
Wu, E.F.3
Fuller, G.N.4
Ramdas, L.5
Zhang, W.6
Raymond, A.K.7
Prieto, V.G.8
Oyedeji, C.O.9
Hunt, K.K.10
Pollock, R.E.11
Feig, B.W.12
Hayes, K.J.13
Choi, H.14
Macapinlac, H.A.15
Hittelman, W.16
Velasco, M.A.17
Patel, S.18
Burgess, M.A.19
Benjamin, R.S.20
Frazier, M.L.21
more..
-
51
-
-
84867005465
-
Rapid relapse after resection of a sunitinib-resistant gastrointestinal stromal tumor harboring a secondary mutation in exon 13 of the c-KIT gene
-
Kikuchi H, Miyazaki S, Setoguchi T, Hiramatsu Y, Ohta M, Kamiya K, Sakaguchi T, Konno H. Rapid relapse after resection of a sunitinib-resistant gastrointestinal stromal tumor harboring a secondary mutation in exon 13 of the c-KIT gene. Anticancer Res. 2012;32:4105-9.
-
(2012)
Anticancer Res
, vol.32
, pp. 4105-4109
-
-
Kikuchi, H.1
Miyazaki, S.2
Setoguchi, T.3
Hiramatsu, Y.4
Ohta, M.5
Kamiya, K.6
Sakaguchi, T.7
Konno, H.8
-
52
-
-
20344393896
-
Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation
-
Antonescu CR, Besmer P, Guo T, Arkun K, Hom G, Koryotowski B, Leversha MA, Jeffrey PD, Desantis D, Singer S, Brennan MF, Maki RG, DeMatteo RP. Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res. 2005;11:4182-90.
-
(2005)
Clin Cancer Res
, vol.11
, pp. 4182-4190
-
-
Antonescu, C.R.1
Besmer, P.2
Guo, T.3
Arkun, K.4
Hom, G.5
Koryotowski, B.6
Leversha, M.A.7
Jeffrey, P.D.8
Desantis, D.9
Singer, S.10
Brennan, M.F.11
Maki, R.G.12
DeMatteo, R.P.13
-
53
-
-
77956497048
-
Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations
-
Yang Y, Letard S, Borge L, Chaix A, Hanssens K, Lopez S, Vita M, Finetti P, Birnbaum D, Bertucci F, Gomez S, de Sepulveda P, Dubreuil P. Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations. Blood. 2010;116:1114-23.
-
(2010)
Blood
, vol.116
, pp. 1114-1123
-
-
Yang, Y.1
Letard, S.2
Borge, L.3
Chaix, A.4
Hanssens, K.5
Lopez, S.6
Vita, M.7
Finetti, P.8
Birnbaum, D.9
Bertucci, F.10
Gomez, S.11
Sepulveda, P.12
Dubreuil, P.13
-
54
-
-
24144503371
-
Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis
-
Hartmann K, Wardelmann E, Ma Y, Merkelbach-Bruse S, Preussner LM, Woolery C, Baldus SE, Heinicke T, Thiele J, Buettner R, Longley BJ. Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. Gastroenterology. 2005;129:1042-6.
-
(2005)
Gastroenterology
, vol.129
, pp. 1042-1046
-
-
Hartmann, K.1
Wardelmann, E.2
Ma, Y.3
Merkelbach-Bruse, S.4
Preussner, L.M.5
Woolery, C.6
Baldus, S.E.7
Heinicke, T.8
Thiele, J.9
Buettner, R.10
Longley, B.J.11
-
55
-
-
84894028771
-
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family
-
Wang HJ, Lin ZM, Zhang J, Yin JH, Yang Y. A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. Clin Exp Dermatol. 2014;39:146-9.
-
(2014)
Clin Exp Dermatol
, vol.39
, pp. 146-149
-
-
Wang, H.J.1
Lin, Z.M.2
Zhang, J.3
Yin, J.H.4
Yang, Y.5
-
56
-
-
32844455834
-
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy
-
Zhang LY, Smith ML, Schultheis B, Fitzgibbon J, Lister TA, Melo JV, Cross NC, Cavenagh JD. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leuk Res. 2006;30:373-8.
-
(2006)
Leuk Res
, vol.30
, pp. 373-378
-
-
Zhang, L.Y.1
Smith, M.L.2
Schultheis, B.3
Fitzgibbon, J.4
Lister, T.A.5
Melo, J.V.6
Cross, N.C.7
Cavenagh, J.D.8
-
57
-
-
84880675029
-
Rare, germline mutation of KIT with imatinib-resistant multiple GI stromal tumors and mastocytosis
-
Speight RA, Nicolle A, Needham SJ, Verrill MW, Bryon J, Panter S. Rare, germline mutation of KIT with imatinib-resistant multiple GI stromal tumors and mastocytosis. J Clin Oncol. 2013;31:e245-7.
-
(2013)
J Clin Oncol
, vol.31
, pp. e245-e247
-
-
Speight, R.A.1
Nicolle, A.2
Needham, S.J.3
Verrill, M.W.4
Bryon, J.5
Panter, S.6
-
58
-
-
84908024600
-
Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412
-
de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, Traina F. Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. Leuk Res. 2014;38:1245-51.
-
(2014)
Leuk Res
, vol.38
, pp. 1245-1251
-
-
Melo Campos, P.1
Machado-Neto, J.A.2
Scopim-Ribeiro, R.3
Visconte, V.4
Tabarroki, A.5
Duarte, A.S.6
Barra, F.F.7
Vassalo, J.8
Rogers, H.J.9
Lorand-Metze, I.10
Tiu, R.V.11
Costa, F.F.12
Olalla Saad, S.T.13
Traina, F.14
-
59
-
-
84903707149
-
Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype
-
Chan EC, Bai Y, Kirshenbaum AS, Fischer ER, Simakova O, Bandara G, Scott LM, Wisch LB, Cantave D, Carter MC, Lewis JC, Noel P, Maric I, Gilfillan AM, Metcalfe DD, Wilson TM. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol. 2014;134:178-87.
-
(2014)
J Allergy Clin Immunol
, vol.134
, pp. 178-187
-
-
Chan, E.C.1
Bai, Y.2
Kirshenbaum, A.S.3
Fischer, E.R.4
Simakova, O.5
Bandara, G.6
Scott, L.M.7
Wisch, L.B.8
Cantave, D.9
Carter, M.C.10
Lewis, J.C.11
Noel, P.12
Maric, I.13
Gilfillan, A.M.14
Metcalfe, D.D.15
Wilson, T.M.16
-
60
-
-
54349098330
-
Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT
-
Foster R, Byrnes E, Meldrum C, Griffith R, Ross G, Upjohn E, Braue A, Scott R, Varigos G, Ferrao P, Ashman LK. Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. Br J Dermatol. 2008;159:1160-9.
-
(2008)
Br J Dermatol
, vol.159
, pp. 1160-1169
-
-
Foster, R.1
Byrnes, E.2
Meldrum, C.3
Griffith, R.4
Ross, G.5
Upjohn, E.6
Braue, A.7
Scott, R.8
Varigos, G.9
Ferrao, P.10
Ashman, L.K.11
-
61
-
-
84857721293
-
Characterization of novel germline c-kit gene mutation, KIT-Tyr553Cys, observed in a family with multiple gastrointestinal stromal tumors
-
Nakai M, Hashikura Y, Ohkouchi M, Yamamura M, Akiyama T, Shiba K, Kajimoto N, Tsukamoto Y, Hao H, Isozaki K, Hirai T, Hirota S. Characterization of novel germline c-kit gene mutation, KIT-Tyr553Cys, observed in a family with multiple gastrointestinal stromal tumors. Lab Invest. 2012;92:451-7.
-
(2012)
Lab Invest
, vol.92
, pp. 451-457
-
-
Nakai, M.1
Hashikura, Y.2
Ohkouchi, M.3
Yamamura, M.4
Akiyama, T.5
Shiba, K.6
Kajimoto, N.7
Tsukamoto, Y.8
Hao, H.9
Isozaki, K.10
Hirai, T.11
Hirota, S.12
-
62
-
-
12144286747
-
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia
-
Robson ME, Glogowski E, Sommer G, Antonescu CR, Nafa K, Maki RG, Ellis N, Besmer P, Brennan M, Offit K. Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res. 2004;10:1250-4.
-
(2004)
Clin Cancer Res
, vol.10
, pp. 1250-1254
-
-
Robson, M.E.1
Glogowski, E.2
Sommer, G.3
Antonescu, C.R.4
Nafa, K.5
Maki, R.G.6
Ellis, N.7
Besmer, P.8
Brennan, M.9
Offit, K.10
-
63
-
-
0033971263
-
Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene
-
Hirota S, Okazaki T, Kitamura Y, O'Brien P, Kapusta L, Dardick I. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol. 2000;24:326-7.
-
(2000)
Am J Surg Pathol
, vol.24
, pp. 326-327
-
-
Hirota, S.1
Okazaki, T.2
Kitamura, Y.3
O'Brien, P.4
Kapusta, L.5
Dardick, I.6
-
64
-
-
0035425217
-
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa
-
Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, Larizza L. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer. 2001;92:657-62.
-
(2001)
Cancer
, vol.92
, pp. 657-662
-
-
Beghini, A.1
Tibiletti, M.G.2
Roversi, G.3
Chiaravalli, A.M.4
Serio, G.5
Capella, C.6
Larizza, L.7
-
65
-
-
80052848917
-
Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women
-
Kuroda N, Tanida N, Hirota S, Daum O, Hes O, Michal M, Lee GH. Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women. Ann Diagn Pathol. 2011;15:358-61.
-
(2011)
Ann Diagn Pathol
, vol.15
, pp. 358-361
-
-
Kuroda, N.1
Tanida, N.2
Hirota, S.3
Daum, O.4
Hes, O.5
Michal, M.6
Lee, G.H.7
-
66
-
-
21044439344
-
Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred
-
Li FP, Fletcher JA, Heinrich MC, Garber JE, Sallan SE, Curiel-Lewandrowski C, Duensing A, van de Rijn M, Schnipper LE, Demetri GD. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol. 2005;23:2735-43.
-
(2005)
J Clin Oncol
, vol.23
, pp. 2735-2743
-
-
Li, F.P.1
Fletcher, J.A.2
Heinrich, M.C.3
Garber, J.E.4
Sallan, S.E.5
Curiel-Lewandrowski, C.6
Duensing, A.7
Rijn, M.8
Schnipper, L.E.9
Demetri, G.D.10
-
67
-
-
28444496341
-
Multiple gastrointestinal stromal tumors with a germline c-kit mutation
-
Kim HJ, Lim SJ, Park K, Yuh YJ, Jang SJ, Choi J. Multiple gastrointestinal stromal tumors with a germline c-kit mutation. Pathol Int. 2005;55:655-9.
-
(2005)
Pathol Int
, vol.55
, pp. 655-659
-
-
Kim, H.J.1
Lim, S.J.2
Park, K.3
Yuh, Y.J.4
Jang, S.J.5
Choi, J.6
-
68
-
-
0031848146
-
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene
-
Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, Kanakura Y, Tanaka T, Takabayashi A, Matsuda H, Kitamura Y. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet. 1998;19:323-4.
-
(1998)
Nat Genet
, vol.19
, pp. 323-324
-
-
Nishida, T.1
Hirota, S.2
Taniguchi, M.3
Hashimoto, K.4
Isozaki, K.5
Nakamura, H.6
Kanakura, Y.7
Tanaka, T.8
Takabayashi, A.9
Matsuda, H.10
Kitamura, Y.11
-
69
-
-
84926327592
-
Familial and multiple gastrointestinal stromal tumors with fair response to a half-dose of imatinib
-
Bamba S, Hirota S, Inatomi O, Ban H, Nishimura T, Shioya M, Imaeda H, Nishida A, Sasaki M, Murata S, Andoh A. Familial and multiple gastrointestinal stromal tumors with fair response to a half-dose of imatinib. Intern Med. 2015;54:759-64.
-
(2015)
Intern Med
, vol.54
, pp. 759-764
-
-
Bamba, S.1
Hirota, S.2
Inatomi, O.3
Ban, H.4
Nishimura, T.5
Shioya, M.6
Imaeda, H.7
Nishida, A.8
Sasaki, M.9
Murata, S.10
Andoh, A.11
-
70
-
-
33846567566
-
Multiple gastrointestinal stromal tumors: clinicopathologic and genetic analysis of 12 patients
-
Kang DY, Park CK, Choi JS, Jin SY, Kim HJ, Joo M, Kang MS, Moon WS, Yun KJ, Yu ES, Kang H, Kim KM. Multiple gastrointestinal stromal tumors: clinicopathologic and genetic analysis of 12 patients. Am J Surg Pathol. 2007;31:224-32.
-
(2007)
Am J Surg Pathol
, vol.31
, pp. 224-232
-
-
Kang, D.Y.1
Park, C.K.2
Choi, J.S.3
Jin, S.Y.4
Kim, H.J.5
Joo, M.6
Kang, M.S.7
Moon, W.S.8
Yun, K.J.9
Yu, E.S.10
Kang, H.11
Kim, K.M.12
-
71
-
-
40749090900
-
Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation
-
Wozniak A, Rutkowski P, Sciot R, Ruka W, Michej W, Debiec-Rychter M. Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation. Int J Cancer. 2008;122:2160-4.
-
(2008)
Int J Cancer
, vol.122
, pp. 2160-2164
-
-
Wozniak, A.1
Rutkowski, P.2
Sciot, R.3
Ruka, W.4
Michej, W.5
Debiec-Rychter, M.6
-
72
-
-
84880178200
-
A novel germline KIT mutation (p. L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis
-
Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Hoffkes HG, Wardelmann E, Schildhaus HU, Tinschert S. A novel germline KIT mutation (p. L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Am J Surg Pathol. 2013;37:898-905.
-
(2013)
Am J Surg Pathol
, vol.37
, pp. 898-905
-
-
Neuhann, T.M.1
Mansmann, V.2
Merkelbach-Bruse, S.3
Klink, B.4
Hellinger, A.5
Hoffkes, H.G.6
Wardelmann, E.7
Schildhaus, H.U.8
Tinschert, S.9
-
73
-
-
12944291461
-
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation
-
Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, Martinez-Gimeno M. Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. Am J Med Genet A. 2005;132A:361-4.
-
(2005)
Am J Med Genet A
, vol.132A
, pp. 361-364
-
-
Carballo, M.1
Roig, I.2
Aguilar, F.3
Pol, M.A.4
Gamundi, M.J.5
Hernan, I.6
Martinez-Gimeno, M.7
-
74
-
-
84924767462
-
Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation
-
Jones DH, Caracciolo JT, Hodul PJ, Strosberg JR, Coppola D, Bui MM. Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation. Cancer Control. 2015;22:102-8.
-
(2015)
Cancer Control
, vol.22
, pp. 102-108
-
-
Jones, D.H.1
Caracciolo, J.T.2
Hodul, P.J.3
Strosberg, J.R.4
Coppola, D.5
Bui, M.M.6
-
75
-
-
21044451716
-
Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling
-
Tarn C, Merkel E, Canutescu AA, Shen W, Skorobogatko Y, Heslin MJ, Eisenberg B, Birbe R, Patchefsky A, Dunbrack R, Arnoletti JP, von Mehren M, Godwin AK. Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling. Clin Cancer Res. 2005;11:3668-77.
-
(2005)
Clin Cancer Res
, vol.11
, pp. 3668-3677
-
-
Tarn, C.1
Merkel, E.2
Canutescu, A.A.3
Shen, W.4
Skorobogatko, Y.5
Heslin, M.J.6
Eisenberg, B.7
Birbe, R.8
Patchefsky, A.9
Dunbrack, R.10
Arnoletti, J.P.11
Mehren, M.12
Godwin, A.K.13
-
77
-
-
37349043267
-
Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor
-
Kleinbaum EP, Lazar AJ, Tamborini E, McAuliffe JC, Sylvestre PB, Sunnenberg TD, Strong L, Chen LL, Choi H, Benjamin RS, Zhang W, Trent JC. Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. Int J Cancer. 2008;122:711-8.
-
(2008)
Int J Cancer
, vol.122
, pp. 711-718
-
-
Kleinbaum, E.P.1
Lazar, A.J.2
Tamborini, E.3
McAuliffe, J.C.4
Sylvestre, P.B.5
Sunnenberg, T.D.6
Strong, L.7
Chen, L.L.8
Choi, H.9
Benjamin, R.S.10
Zhang, W.11
Trent, J.C.12
-
79
-
-
84896534763
-
Multiple gastrointestinal stromal tumors with novel germline c-kit gene mutation, K642T, at exon 13
-
Yamanoi K, Higuchi K, Kishimoto H, Nishida Y, Nakamura M, Sudoh M, Hirota S. Multiple gastrointestinal stromal tumors with novel germline c-kit gene mutation, K642T, at exon 13. Hum Pathol. 2014;45:884-8.
-
(2014)
Hum Pathol
, vol.45
, pp. 884-888
-
-
Yamanoi, K.1
Higuchi, K.2
Kishimoto, H.3
Nishida, Y.4
Nakamura, M.5
Sudoh, M.6
Hirota, S.7
-
80
-
-
84879290840
-
Diagnosis, prognosis and treatment of patients with gastrointestinal stromal tumour (GIST) and germline mutation of KIT exon 13
-
Bachet JB, Landi B, Laurent-Puig P, Italiano A, Le Cesne A, Levy P, Safar V, Duffaud F, Blay JY, Emile JF. Diagnosis, prognosis and treatment of patients with gastrointestinal stromal tumour (GIST) and germline mutation of KIT exon 13. Eur J Cancer. 2013;49:2531-41.
-
(2013)
Eur J Cancer
, vol.49
, pp. 2531-2541
-
-
Bachet, J.B.1
Landi, B.2
Laurent-Puig, P.3
Italiano, A.4
Cesne, A.5
Levy, P.6
Safar, V.7
Duffaud, F.8
Blay, J.Y.9
Emile, J.F.10
-
81
-
-
0033678402
-
Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors
-
Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol. 2000;157:1581-5.
-
(2000)
Am J Pathol
, vol.157
, pp. 1581-1585
-
-
Isozaki, K.1
Terris, B.2
Belghiti, J.3
Schiffmann, S.4
Hirota, S.5
Vanderwinden, J.M.6
-
82
-
-
34548809741
-
Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation
-
Graham J, Debiec-Rychter M, Corless CL, Reid R, Davidson R, White JD. Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. Arch Pathol Lab Med. 2007;131:1393-6.
-
(2007)
Arch Pathol Lab Med
, vol.131
, pp. 1393-1396
-
-
Graham, J.1
Debiec-Rychter, M.2
Corless, C.L.3
Reid, R.4
Davidson, R.5
White, J.D.6
-
83
-
-
79955571567
-
Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?
-
Vilain RE, Dudding T, Braye SG, Groombridge C, Meldrum C, Spigelman AD, Ackland S, Ashman L, Scott RJ. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? Clin Genet. 2011;79:554-60.
-
(2011)
Clin Genet
, vol.79
, pp. 554-560
-
-
Vilain, R.E.1
Dudding, T.2
Braye, S.G.3
Groombridge, C.4
Meldrum, C.5
Spigelman, A.D.6
Ackland, S.7
Ashman, L.8
Scott, R.J.9
-
84
-
-
0036240932
-
Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene
-
Hirota S, Nishida T, Isozaki K, Taniguchi M, Nishikawa K, Ohashi A, Takabayashi A, Obayashi T, Okuno T, Kinoshita K, Chen H, Shinomura Y, Kitamura Y. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology. 2002;122:1493-9.
-
(2002)
Gastroenterology
, vol.122
, pp. 1493-1499
-
-
Hirota, S.1
Nishida, T.2
Isozaki, K.3
Taniguchi, M.4
Nishikawa, K.5
Ohashi, A.6
Takabayashi, A.7
Obayashi, T.8
Okuno, T.9
Kinoshita, K.10
Chen, H.11
Shinomura, Y.12
Kitamura, Y.13
-
85
-
-
75149193619
-
Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways
-
Veiga I, Silva M, Vieira J, Pinto C, Pinheiro M, Torres L, Soares M, Santos L, Duarte H, Bastos AL, Coutinho C, Dinis J, Lopes C, Teixeira MR. Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. Genes Chromosomes Cancer. 2010;49:91-8.
-
(2010)
Genes Chromosomes Cancer
, vol.49
, pp. 91-98
-
-
Veiga, I.1
Silva, M.2
Vieira, J.3
Pinto, C.4
Pinheiro, M.5
Torres, L.6
Soares, M.7
Santos, L.8
Duarte, H.9
Bastos, A.L.10
Coutinho, C.11
Dinis, J.12
Lopes, C.13
Teixeira, M.R.14
-
86
-
-
33644812236
-
Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features
-
O'Riain C, Corless CL, Heinrich MC, Keegan D, Vioreanu M, Maguire D, Sheahan K. Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features. Am J Surg Pathol. 2005;29:1680-3.
-
(2005)
Am J Surg Pathol
, vol.29
, pp. 1680-1683
-
-
O'Riain, C.1
Corless, C.L.2
Heinrich, M.C.3
Keegan, D.4
Vioreanu, M.5
Maguire, D.6
Sheahan, K.7
-
87
-
-
53449086305
-
Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y
-
Thalheimer A, Schlemmer M, Bueter M, Merkelbach-Bruse S, Schildhaus HU, Buettner R, Hartung E, Thiede A, Meyer D, Fein M, Maroske J, Wardelmann E. Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y. Am J Surg Pathol. 2008;32:1560-5.
-
(2008)
Am J Surg Pathol
, vol.32
, pp. 1560-1565
-
-
Thalheimer, A.1
Schlemmer, M.2
Bueter, M.3
Merkelbach-Bruse, S.4
Schildhaus, H.U.5
Buettner, R.6
Hartung, E.7
Thiede, A.8
Meyer, D.9
Fein, M.10
Maroske, J.11
Wardelmann, E.12
-
88
-
-
79960629726
-
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis
-
Wasag B, Niedoszytko M, Piskorz A, Lange M, Renke J, Jassem E, Biernat W, Debiec-Rychter M, Limon J. Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. Exp Hematol. 2011;39:859-65.
-
(2011)
Exp Hematol
, vol.39
, pp. 859-865
-
-
Wasag, B.1
Niedoszytko, M.2
Piskorz, A.3
Lange, M.4
Renke, J.5
Jassem, E.6
Biernat, W.7
Debiec-Rychter, M.8
Limon, J.9
-
89
-
-
23944452835
-
KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation
-
Miettinen M, Lasota J. KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. Appl Immunohistochem Mol Morphol. 2005;13:205-20.
-
(2005)
Appl Immunohistochem Mol Morphol
, vol.13
, pp. 205-220
-
-
Miettinen, M.1
Lasota, J.2
-
90
-
-
77955275396
-
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V
-
Fritsche-Polanz R, Fritz M, Huber A, Sotlar K, Sperr WR, Mannhalter C, Fodinger M, Valent P. High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. Mol Oncol. 2010;4:335-46.
-
(2010)
Mol Oncol
, vol.4
, pp. 335-346
-
-
Fritsche-Polanz, R.1
Fritz, M.2
Huber, A.3
Sotlar, K.4
Sperr, W.R.5
Mannhalter, C.6
Fodinger, M.7
Valent, P.8
-
91
-
-
84927174961
-
The genetic basis of mast cell activation disease-looking through a glass darkly
-
Molderings GJ. The genetic basis of mast cell activation disease-looking through a glass darkly. Crit Rev Oncol Hematol. 2015;93:75-89.
-
(2015)
Crit Rev Oncol Hematol
, vol.93
, pp. 75-89
-
-
Molderings, G.J.1
-
92
-
-
84924050016
-
Unique case of sporadic multiple gastro intestinal stromal tumour
-
Graziosi L, Marino E, Ludovini V, Rebonato A, Angelis VD, Donini A. Unique case of sporadic multiple gastro intestinal stromal tumour. Int J Surg Case Rep. 2015;9:98-100.
-
(2015)
Int J Surg Case Rep
, vol.9
, pp. 98-100
-
-
Graziosi, L.1
Marino, E.2
Ludovini, V.3
Rebonato, A.4
Angelis, V.D.5
Donini, A.6
-
93
-
-
0033883060
-
KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors
-
Lux ML, Rubin BP, Biase TL, Chen CJ, Maclure T, Demetri G, Xiao S, Singer S, Fletcher CD, Fletcher JA. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol. 2000;156:791-5.
-
(2000)
Am J Pathol
, vol.156
, pp. 791-795
-
-
Lux, M.L.1
Rubin, B.P.2
Biase, T.L.3
Chen, C.J.4
Maclure, T.5
Demetri, G.6
Xiao, S.7
Singer, S.8
Fletcher, C.D.9
Fletcher, J.A.10
-
94
-
-
84939266999
-
Emerging agents for the treatment of advanced, imatinib-resistant gastrointestinal stromal tumors: current status and future directions
-
Bauer S, Joensuu H. Emerging agents for the treatment of advanced, imatinib-resistant gastrointestinal stromal tumors: current status and future directions. Drugs. 2015;75:1323-34.
-
(2015)
Drugs
, vol.75
, pp. 1323-1334
-
-
Bauer, S.1
Joensuu, H.2
-
95
-
-
38549161146
-
Melanocyte fate in neural crest is triggered by Myb proteins through activation of c-kit
-
Karafiat V, Dvorakova M, Pajer P, Cermak V, Dvorak M. Melanocyte fate in neural crest is triggered by Myb proteins through activation of c-kit. Cell Mol Life Sci. 2007;64:2975-84.
-
(2007)
Cell Mol Life Sci
, vol.64
, pp. 2975-2984
-
-
Karafiat, V.1
Dvorakova, M.2
Pajer, P.3
Cermak, V.4
Dvorak, M.5
-
96
-
-
0036122244
-
Transforming growth factor beta1 regulates melanocyte proliferation and differentiation in mouse neural crest cells via stem cell factor/KIT signaling
-
Kawakami T, Soma Y, Kawa Y, Ito M, Yamasaki E, Watabe H, Hosaka E, Yajima K, Ohsumi K, Mizoguchi M. Transforming growth factor beta1 regulates melanocyte proliferation and differentiation in mouse neural crest cells via stem cell factor/KIT signaling. J Invest Dermatol. 2002;118:471-8.
-
(2002)
J Invest Dermatol
, vol.118
, pp. 471-478
-
-
Kawakami, T.1
Soma, Y.2
Kawa, Y.3
Ito, M.4
Yamasaki, E.5
Watabe, H.6
Hosaka, E.7
Yajima, K.8
Ohsumi, K.9
Mizoguchi, M.10
-
97
-
-
0028252924
-
Steel factor and c-kit protooncogene: genetic lessons in signal transduction
-
Lev S, Blechman JM, Givol D, Yarden Y. Steel factor and c-kit protooncogene: genetic lessons in signal transduction. Crit Rev Oncog. 1994;5:141-68.
-
(1994)
Crit Rev Oncog
, vol.5
, pp. 141-168
-
-
Lev, S.1
Blechman, J.M.2
Givol, D.3
Yarden, Y.4
-
98
-
-
84870494429
-
Driver mutations in melanoma: lessons learned from bench-to-bedside studies
-
Mehnert JM, Kluger HM. Driver mutations in melanoma: lessons learned from bench-to-bedside studies. Curr Oncol Rep. 2012;14:449-57.
-
(2012)
Curr Oncol Rep
, vol.14
, pp. 449-457
-
-
Mehnert, J.M.1
Kluger, H.M.2
-
99
-
-
79955965083
-
KIT amplification and gene mutations in acral/mucosal melanoma in Korea
-
Yun J, Lee J, Jang J, Lee EJ, Jang KT, Kim JH, Kim KM. KIT amplification and gene mutations in acral/mucosal melanoma in Korea. APMIS. 2011;119:330-5.
-
(2011)
APMIS
, vol.119
, pp. 330-335
-
-
Yun, J.1
Lee, J.2
Jang, J.3
Lee, E.J.4
Jang, K.T.5
Kim, J.H.6
Kim, K.M.7
-
100
-
-
58149461573
-
Pathological activation of KIT in metastatic tumors of acral and mucosal melanomas
-
Ashida A, Takata M, Murata H, Kido K, Saida T. Pathological activation of KIT in metastatic tumors of acral and mucosal melanomas. Int J Cancer. 2009;124:862-8.
-
(2009)
Int J Cancer
, vol.124
, pp. 862-868
-
-
Ashida, A.1
Takata, M.2
Murata, H.3
Kido, K.4
Saida, T.5
-
101
-
-
38949125814
-
A mouse model of a human multiple GIST family with KIT-Asp820Tyr mutation generated by a knock-in strategy
-
Nakai N, Ishikawa T, Nishitani A, Liu NN, Shincho M, Hao H, Isozaki K, Kanda T, Nishida T, Fujimoto J, Hirota S. A mouse model of a human multiple GIST family with KIT-Asp820Tyr mutation generated by a knock-in strategy. J Pathol. 2008;214:302-11.
-
(2008)
J Pathol
, vol.214
, pp. 302-311
-
-
Nakai, N.1
Ishikawa, T.2
Nishitani, A.3
Liu, N.N.4
Shincho, M.5
Hao, H.6
Isozaki, K.7
Kanda, T.8
Nishida, T.9
Fujimoto, J.10
Hirota, S.11
-
102
-
-
0038312141
-
Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase
-
Sommer G, Agosti V, Ehlers I, Rossi F, Corbacioglu S, Farkas J, Moore M, Manova K, Antonescu CR, Besmer P. Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. Proc Natl Acad Sci USA. 2003;100:6706-11.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 6706-6711
-
-
Sommer, G.1
Agosti, V.2
Ehlers, I.3
Rossi, F.4
Corbacioglu, S.5
Farkas, J.6
Moore, M.7
Manova, K.8
Antonescu, C.R.9
Besmer, P.10
-
103
-
-
23044467277
-
A knock-in mouse model of gastrointestinal stromal tumor harboring kit K641E
-
Rubin BP, Antonescu CR, Scott-Browne JP, Comstock ML, Gu Y, Tanas MR, Ware CB, Woodell J. A knock-in mouse model of gastrointestinal stromal tumor harboring kit K641E. Cancer Res. 2005;65:6631-9.
-
(2005)
Cancer Res
, vol.65
, pp. 6631-6639
-
-
Rubin, B.P.1
Antonescu, C.R.2
Scott-Browne, J.P.3
Comstock, M.L.4
Gu, Y.5
Tanas, M.R.6
Ware, C.B.7
Woodell, J.8
|