-
1
-
-
78650970845
-
Innate or adaptive immunity? The example of natural killer cells
-
doi:10.1126/science.1198687
-
Vivier E, Raulet DH, Moretta A, Caligiuri MA, Zitvogel L, Lanier LL, et al. Innate or adaptive immunity? The example of natural killer cells. Science (2011) 331(6013):44-9. doi:10.1126/science.1198687.
-
(2011)
Science
, vol.331
, Issue.6013
, pp. 44-49
-
-
Vivier, E.1
Raulet, D.H.2
Moretta, A.3
Caligiuri, M.A.4
Zitvogel, L.5
Lanier, L.L.6
-
2
-
-
84881029114
-
Human NK cell receptors/markers: a tool to analyze NK cell development, subsets and function
-
doi:10.1002/cyto.a.22302
-
Montaldo E, Del Zotto G, Della Chiesa M, Mingari MC, Moretta A, De Maria A, et al. Human NK cell receptors/markers: a tool to analyze NK cell development, subsets and function. Cytometry A (2013) 83(8):702-13. doi:10.1002/cyto.a.22302.
-
(2013)
Cytometry A
, vol.83
, Issue.8
, pp. 702-713
-
-
Montaldo, E.1
Del Zotto, G.2
Della Chiesa, M.3
Mingari, M.C.4
Moretta, A.5
De Maria, A.6
-
3
-
-
33749185296
-
Centrosome polarization delivers secretory granules to the immunological synapse
-
doi:10.1038/nature05071
-
Stinchcombe JC, Majorovits E, Bossi G, Fuller S, Griffiths GM. Centrosome polarization delivers secretory granules to the immunological synapse. Nature (2006) 443(7110):462-5. doi:10.1038/nature05071.
-
(2006)
Nature
, vol.443
, Issue.7110
, pp. 462-465
-
-
Stinchcombe, J.C.1
Majorovits, E.2
Bossi, G.3
Fuller, S.4
Griffiths, G.M.5
-
4
-
-
84880674186
-
T cell regulation of natural killer cells
-
doi:10.1084/jem.20130960
-
Kerdiles Y, Ugolini S, Vivier E. T cell regulation of natural killer cells. J Exp Med (2013) 210(6):1065-8. doi:10.1084/jem.20130960.
-
(2013)
J Exp Med
, vol.210
, Issue.6
, pp. 1065-1068
-
-
Kerdiles, Y.1
Ugolini, S.2
Vivier, E.3
-
5
-
-
84856222286
-
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity
-
doi:10.1007/s00018-011-0835-y
-
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, et al. Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. Cell Mol Life Sci (2012) 69(1):29-40. doi:10.1007/s00018-011-0835-y.
-
(2012)
Cell Mol Life Sci
, vol.69
, Issue.1
, pp. 29-40
-
-
Sieni, E.1
Cetica, V.2
Mastrodicasa, E.3
Pende, D.4
Moretta, L.5
Griffiths, G.6
-
6
-
-
77951229848
-
Identification of an Xiap-like pseudogene on mouse chromosome 7
-
doi:10.1371/journal.pone.0008078
-
Kotevski A, Cook WD, Vaux DL, Callus BA. Identification of an Xiap-like pseudogene on mouse chromosome 7. PLoS One (2009) 4:e8078. doi:10.1371/journal.pone.0008078.
-
(2009)
PLoS One
, vol.4
-
-
Kotevski, A.1
Cook, W.D.2
Vaux, D.L.3
Callus, B.A.4
-
7
-
-
77950656593
-
Molecular basis of familial hemophagocytic lymphohistiocytosis
-
doi:10.3324/haematol.2009.019562
-
Cetica V, Pende D, Griffiths GM, Aricò M. Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica (2010) 95:538-41. doi:10.3324/haematol.2009.019562.
-
(2010)
Haematologica
, vol.95
, pp. 538-541
-
-
Cetica, V.1
Pende, D.2
Griffiths, G.M.3
Aricò, M.4
-
8
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
doi:10.1126/science.286.5446.1957
-
Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science (1999) 286(5446):1957-9. doi:10.1126/science.286.5446.1957.
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le Deist, F.3
Bhawan, S.4
Certain, S.5
Mathew, P.A.6
-
9
-
-
29944442846
-
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
-
doi:10.1002/humu.20274
-
Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat (2006) 27(1):62-8. doi:10.1002/humu.20274.
-
(2006)
Hum Mutat
, vol.27
, Issue.1
, pp. 62-68
-
-
Zur Stadt, U.1
Beutel, K.2
Kolberg, S.3
Schneppenheim, R.4
Kabisch, H.5
Janka, G.6
-
10
-
-
38349146702
-
Genoptype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
-
doi:10.1136/jmg.2007.052670
-
Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, et al. Genoptype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet (2008) 45:15-21. doi:10.1136/jmg.2007.052670.
-
(2008)
J Med Genet
, vol.45
, pp. 15-21
-
-
Trizzino, A.1
zur Stadt, U.2
Ueda, I.3
Risma, K.4
Janka, G.5
Ishii, E.6
-
11
-
-
0034847883
-
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
-
doi:10.1136/jmg.38.9.643
-
Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet (2001) 38:643-6. doi:10.1136/jmg.38.9.643.
-
(2001)
J Med Genet
, vol.38
, pp. 643-646
-
-
Clementi, R.1
zur Stadt, U.2
Savoldi, G.3
Varoitto, S.4
Conter, V.5
De Fusco, C.6
-
12
-
-
0035092422
-
Spectrum of perforin gene muations in familial hemophagocytic lymphohistiocytosis
-
doi:10.1086/318796
-
Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, et al. Spectrum of perforin gene muations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet (2001) 68:590-7. doi:10.1086/318796.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 590-597
-
-
Göransdotter Ericson, K.1
Fadeel, B.2
Nilsson-Ardnor, S.3
Söderhäll, C.4
Samuelsson, A.5
Janka, G.6
-
13
-
-
0036277746
-
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
-
doi:10.1046/j.1365-2141.2002.03534.x
-
Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol (2002) 117(4):965-72. doi:10.1046/j.1365-2141.2002.03534.x.
-
(2002)
Br J Haematol
, vol.117
, Issue.4
, pp. 965-972
-
-
Feldmann, J.1
Le Deist, F.2
Ouachée-Chardin, M.3
Certain, S.4
Alexander, S.5
Quartier, P.6
-
14
-
-
0036095443
-
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
-
doi:10.1182/blood.V99.1.61
-
Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood (2002) 99(1):61-6. doi:10.1182/blood.V99.1.61.
-
(2002)
Blood
, vol.99
, Issue.1
, pp. 61-66
-
-
Kogawa, K.1
Lee, S.M.2
Villanueva, J.3
Marmer, D.4
Sumegi, J.5
Filipovich, A.H.6
-
15
-
-
0036181273
-
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
-
doi:10.1046/j.1365-2141.2002.03266.x
-
Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, et al. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol (2002) 116:346-9. doi:10.1046/j.1365-2141.2002.03266.x.
-
(2002)
Br J Haematol
, vol.116
, pp. 346-349
-
-
Suga, N.1
Takada, H.2
Nomura, A.3
Ohga, S.4
Ishii, E.5
Ihara, K.6
-
16
-
-
0038692336
-
Characteristic peforin gene mutations of haemophagocytic lymphohistiocytosis in Japan
-
doi:10.1046/j.1365-2141.2003.04298.x
-
Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, et al. Characteristic peforin gene mutations of haemophagocytic lymphohistiocytosis in Japan. Br J Haematol (2003) 121:503-10. doi:10.1046/j.1365-2141.2003.04298.x.
-
(2003)
Br J Haematol
, vol.121
, pp. 503-510
-
-
Ueda, I.1
Morimoto, A.2
Inaba, T.3
Yagi, T.4
Hibi, S.5
Sugimoto, T.6
-
17
-
-
1242292327
-
Characterisation of diverse PRF1 mutations leading to decreased killer cell activity in North American families with haemophagocytic lymphohistiocytosis
-
doi:10.1136/jmg.2003.011528
-
Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, et al. Characterisation of diverse PRF1 mutations leading to decreased killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet (2004) 41:137-44. doi:10.1136/jmg.2003.011528.
-
(2004)
J Med Genet
, vol.41
, pp. 137-144
-
-
Molleran Lee, S.1
Villanueva, J.2
Sumegi, J.3
Zhang, K.4
Kogawa, K.5
Davis, J.6
-
18
-
-
84881309795
-
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients
-
doi:10.1002/pro.2265
-
An O, Gursoy A, Gurgey A, Keskin O. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. Protein Sci (2013) 22(6):823-39. doi:10.1002/pro.2265.
-
(2013)
Protein Sci
, vol.22
, Issue.6
, pp. 823-839
-
-
An, O.1
Gursoy, A.2
Gurgey, A.3
Keskin, O.4
-
19
-
-
33746138137
-
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation
-
doi:10.1016/j.jpeds.2006.03.003
-
Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr (2006) 149(1):134-7. doi:10.1016/j.jpeds.2006.03.003.
-
(2006)
J Pediatr
, vol.149
, Issue.1
, pp. 134-137
-
-
Lee, S.M.1
Sumegi, J.2
Villanueva, J.3
Tabata, Y.4
Zhang, K.5
Chakraborty, R.6
-
20
-
-
20344362940
-
A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
-
Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Aricò M. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? Haematologica (2005) 90(5):697-8.
-
(2005)
Haematologica
, vol.90
, Issue.5
, pp. 697-698
-
-
Santoro, A.1
Cannella, S.2
Trizzino, A.3
Lo Nigro, L.4
Corsello, G.5
Aricò, M.6
-
21
-
-
84886033237
-
Human perforin mutations and susceptibility to multiple primary cancers
-
doi:10.4161/onci.24185
-
Trapani JA, Thia KY, Andrews M, Davis ID, Gedye C, Parente P, et al. Human perforin mutations and susceptibility to multiple primary cancers. Oncoimmunology (2013) 2(4):e24185. doi:10.4161/onci.24185.
-
(2013)
Oncoimmunology
, vol.2
, Issue.4
-
-
Trapani, J.A.1
Thia, K.Y.2
Andrews, M.3
Davis, I.D.4
Gedye, C.5
Parente, P.6
-
22
-
-
20344406945
-
A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin
-
doi:10.1182/blood-2004-09-3713
-
Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, et al. A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood (2005) 106(3):932-7. doi:10.1182/blood-2004-09-3713.
-
(2005)
Blood
, vol.106
, Issue.3
, pp. 932-937
-
-
Trambas, C.1
Gallo, F.2
Pende, D.3
Marcenaro, S.4
Moretta, L.5
De Fusco, C.6
-
23
-
-
84870945136
-
Functional impact of A91V mutation of the PRF1 perforin gene
-
doi:10.1016/j.humimm.2012.10.011
-
Martínez-Pomar N, Lanio N, Romo N, Lopez-Botet M, Matamoros N. Functional impact of A91V mutation of the PRF1 perforin gene. Hum Immunol (2013) 74(1):14-7. doi:10.1016/j.humimm.2012.10.011.
-
(2013)
Hum Immunol
, vol.74
, Issue.1
, pp. 14-17
-
-
Martínez-Pomar, N.1
Lanio, N.2
Romo, N.3
Lopez-Botet, M.4
Matamoros, N.5
-
24
-
-
82155184541
-
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
-
doi:10.1182/blood-2011-07-370148
-
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood (2011) 118(22):5794-8. doi:10.1182/blood-2011-07-370148.
-
(2011)
Blood
, vol.118
, Issue.22
, pp. 5794-5798
-
-
Zhang, K.1
Jordan, M.B.2
Marsh, R.A.3
Johnson, J.A.4
Kissell, D.5
Meller, J.6
-
25
-
-
10744224641
-
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
-
doi:10.1016/S0092-8674(03)00855-9
-
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 115(4):461-73. doi:10.1016/S0092-8674(03)00855-9.
-
(2003)
Cell
, vol.115
, Issue.4
, pp. 461-473
-
-
Feldmann, J.1
Callebaut, I.2
Raposo, G.3
Certain, S.4
Bacq, D.5
Dumont, C.6
-
26
-
-
40649116705
-
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
-
doi:10.1136/jmg.2007.054288
-
Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, et al. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. J Med Genet (2008) 45(3):134-41. doi:10.1136/jmg.2007.054288.
-
(2008)
J Med Genet
, vol.45
, Issue.3
, pp. 134-141
-
-
Rudd, E.1
Bryceson, Y.T.2
Zheng, C.3
Edner, J.4
Wood, S.M.5
Ramme, K.6
-
27
-
-
33749333212
-
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
-
doi:10.1136/jmg.2006.041863
-
Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, et al. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet (2006) 43(12):953-60. doi:10.1136/jmg.2006.041863.
-
(2006)
J Med Genet
, vol.43
, Issue.12
, pp. 953-960
-
-
Santoro, A.1
Cannella, S.2
Bossi, G.3
Gallo, F.4
Trizzino, A.5
Pende, D.6
-
28
-
-
79955540994
-
Genoptype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
-
doi:10.1136/jmg.2010.085456
-
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, et al. Genoptype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet (2011) 48(5):343-52. doi:10.1136/jmg.2010.085456.
-
(2011)
J Med Genet
, vol.48
, Issue.5
, pp. 343-352
-
-
Sieni, E.1
Cetica, V.2
Santoro, A.3
Beutel, K.4
Mastrodicasa, E.5
Meeths, M.6
-
29
-
-
46849103879
-
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
-
doi:10.3324/haematol.12622
-
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, et al. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica (2008) 93(7):1086-90. doi:10.3324/haematol.12622.
-
(2008)
Haematologica
, vol.93
, Issue.7
, pp. 1086-1090
-
-
Santoro, A.1
Cannella, S.2
Trizzino, A.3
Bruno, G.4
De Fusco, C.5
Notarangelo, L.D.6
-
30
-
-
82155184553
-
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
-
doi:10.1182/blood-2011-07-369090
-
Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood (2011) 118(22):5783-93. doi:10.1182/blood-2011-07-369090.
-
(2011)
Blood
, vol.118
, Issue.22
, pp. 5783-5793
-
-
Meeths, M.1
Chiang, S.C.2
Wood, S.M.3
Entesarian, M.4
Schlums, H.5
Bang, B.6
-
31
-
-
84880311080
-
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3
-
doi:10.1111/bjh.12371
-
Entesarian M, Chiang SC, Schlums H, Meeths M, Chan MY, Mya SN, et al. Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. Br J Haematol (2013) 162(3):415-8. doi:10.1111/bjh.12371.
-
(2013)
Br J Haematol
, vol.162
, Issue.3
, pp. 415-418
-
-
Entesarian, M.1
Chiang, S.C.2
Schlums, H.3
Meeths, M.4
Chan, M.Y.5
Mya, S.N.6
-
32
-
-
77950685155
-
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
-
doi:10.3324/haematol.2009.016949
-
Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, et al. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica (2010) 95:622-6. doi:10.3324/haematol.2009.016949.
-
(2010)
Haematologica
, vol.95
, pp. 622-626
-
-
Yoon, H.S.1
Kim, H.J.2
Yoo, K.H.3
Sung, K.W.4
Koo, H.H.5
Kang, H.J.6
-
33
-
-
20144363940
-
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type 4 to chromosome 6q24 and identification of mutation in syntaxin 11
-
doi:10.1093/hmg/ddi076
-
zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type 4 to chromosome 6q24 and identification of mutation in syntaxin 11. Hum Mol Genet (2005) 14:827-34. doi:10.1093/hmg/ddi076.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 827-834
-
-
zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
Beutel, K.4
Diler, A.S.5
Henter, J.I.6
-
34
-
-
34548814973
-
Defective cytotoxic lymphocyte egranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
-
doi:10.1182/blood-2007-02-074468
-
Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, et al. Defective cytotoxic lymphocyte egranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood (2007) 110:1906-15. doi:10.1182/blood-2007-02-074468.
-
(2007)
Blood
, vol.110
, pp. 1906-1915
-
-
Bryceson, Y.T.1
Rudd, E.2
Zheng, C.3
Edner, J.4
Ma, D.5
Wood, S.M.6
-
35
-
-
33745052933
-
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
-
doi:10.1136/jmg.2005.035253
-
Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, et al. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet (2006) 43(4):e14. doi:10.1136/jmg.2005.035253.
-
(2006)
J Med Genet
, vol.43
, Issue.4
-
-
Rudd, E.1
Göransdotter Ericson, K.2
Zheng, C.3
Uysal, Z.4
Ozkan, A.5
Gürgey, A.6
-
36
-
-
77953269026
-
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America
-
doi:10.1002/pbc.22499
-
Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, et al. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer (2010) 55(1):134-40. doi:10.1002/pbc.22499.
-
(2010)
Pediatr Blood Cancer
, vol.55
, Issue.1
, pp. 134-140
-
-
Marsh, R.A.1
Satake, N.2
Biroschak, J.3
Jacobs, T.4
Johnson, J.5
Jordan, M.B.6
-
37
-
-
51249096022
-
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
-
doi:10.1111/j.1365-2141.2008.07315.x
-
Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, et al. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol (2008) 143(1):75-83. doi:10.1111/j.1365-2141.2008.07315.x.
-
(2008)
Br J Haematol
, vol.143
, Issue.1
, pp. 75-83
-
-
Horne, A.1
Ramme, K.G.2
Rudd, E.3
Zheng, C.4
Wali, Y.5
al-Lamki, Z.6
-
38
-
-
84872438906
-
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11
-
doi:10.1182/blood-2012-07-440339
-
Sepulveda FE, Debeurme F, Ménasché G, Kurowska M, Côte M, Pachlopnik Schmid J, et al. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. Blood (2013) 121:595-603. doi:10.1182/blood-2012-07-440339.
-
(2013)
Blood
, vol.121
, pp. 595-603
-
-
Sepulveda, F.E.1
Debeurme, F.2
Ménasché, G.3
Kurowska, M.4
Côte, M.5
Pachlopnik Schmid, J.6
-
39
-
-
84987800370
-
An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2
-
doi:10.3389/fimmu.2013.00515
-
Müller ML, Chiang SC, Meeths M, Tesi B, Entesarian M, Nilsson D, et al. An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2. Front Immunol (2014) 4:515. doi:10.3389/fimmu.2013.00515.
-
(2014)
Front Immunol
, vol.4
, pp. 515
-
-
Müller, M.L.1
Chiang, S.C.2
Meeths, M.3
Tesi, B.4
Entesarian, M.5
Nilsson, D.6
-
40
-
-
72849125357
-
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
-
doi:10.1172/JCI40732
-
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 119(12):3765-73. doi:10.1172/JCI40732.
-
(2009)
J Clin Invest
, vol.119
, Issue.12
, pp. 3765-3773
-
-
Côte, M.1
Ménager, M.M.2
Burgess, A.3
Mahlaoui, N.4
Picard, C.5
Schaffner, C.6
-
41
-
-
70350500464
-
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
-
doi:10.1016/j.ajhg.2009.09.005
-
zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet (2009) 85(4):482-92. doi:10.1016/j.ajhg.2009.09.005.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.4
, pp. 482-492
-
-
zur Stadt, U.1
Rohr, J.2
Seifert, W.3
Koch, F.4
Grieve, S.5
Pagel, J.6
-
42
-
-
84862749911
-
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
-
doi:10.1182/blood-2011-12-398958
-
Pagel J, Beutel K, Lehmberg K. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood (2012) 119(25):6016-24. doi:10.1182/blood-2011-12-398958.
-
(2012)
Blood
, vol.119
, Issue.25
, pp. 6016-6024
-
-
Pagel, J.1
Beutel, K.2
Lehmberg, K.3
-
43
-
-
78649779989
-
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes
-
doi:10.1371/journal.pone.0014173
-
Nagai K, Yamamoto K, Fujiwara H, An J, Ochi T, Suemori K, et al. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. PLoS One (2010) 5(11):e14173. doi:10.1371/journal.pone.0014173.
-
(2010)
PLoS One
, vol.5
, Issue.11
-
-
Nagai, K.1
Yamamoto, K.2
Fujiwara, H.3
An, J.4
Ochi, T.5
Suemori, K.6
-
44
-
-
77956109360
-
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
-
doi:10.1136/jmg.2009.075341
-
Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J Med Genet (2010) 47:595-600. doi:10.1136/jmg.2009.075341.
-
(2010)
J Med Genet
, vol.47
, pp. 595-600
-
-
Cetica, V.1
Santoro, A.2
Gilmour, K.C.3
Sieni, E.4
Beutel, K.5
Pende, D.6
-
45
-
-
84878262297
-
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations
-
doi:10.1002/pbc.24475
-
Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, et al. Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. Pediatr Blood Cancer (2013) 60(7):1215-22. doi:10.1002/pbc.24475.
-
(2013)
Pediatr Blood Cancer
, vol.60
, Issue.7
, pp. 1215-1222
-
-
Stepensky, P.1
Bartram, J.2
Barth, T.F.3
Lehmberg, K.4
Walther, P.5
Amann, K.6
-
46
-
-
84883787003
-
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations
-
doi:10.1182/blood-2013-03-494039
-
Zhao XW, Gazendam RP, Drewniak A, van Houdt M, Tool AT, van Hamme JL, et al. Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. Blood (2013) 122:109-11. doi:10.1182/blood-2013-03-494039.
-
(2013)
Blood
, vol.122
, pp. 109-111
-
-
Zhao, X.W.1
Gazendam, R.P.2
Drewniak, A.3
van Houdt, M.4
Tool, A.T.5
van Hamme, J.L.6
-
47
-
-
78650660345
-
Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
-
doi:10.1182/blood-2010-08-302943
-
Sandrock K, Nakamura L, Vraetz T, Beutel K, Ehl S, Zieger B. Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Blood (2010) 116:6148-50. doi:10.1182/blood-2010-08-302943.
-
(2010)
Blood
, vol.116
, pp. 6148-6150
-
-
Sandrock, K.1
Nakamura, L.2
Vraetz, T.3
Beutel, K.4
Ehl, S.5
Zieger, B.6
-
48
-
-
77957954413
-
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
-
doi:10.1182/blood-2010-05-282541
-
Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood (2010) 116:2635-43. doi:10.1182/blood-2010-05-282541.
-
(2010)
Blood
, vol.116
, pp. 2635-2643
-
-
Meeths, M.1
Entesarian, M.2
Al-Herz, W.3
Chiang, S.C.4
Wood, S.M.5
Al-Ateeqi, W.6
-
49
-
-
84866541591
-
Munc18b/STXBP2 is required for platelet secretion
-
doi:10.1182/blood-2012-05-430629
-
Al Hawas R, Ren Q, Ye S, Karim ZA, Filipovich AH, Whiteheart SW. Munc18b/STXBP2 is required for platelet secretion. Blood (2012) 120:2493-500. doi:10.1182/blood-2012-05-430629.
-
(2012)
Blood
, vol.120
, pp. 2493-2500
-
-
Al Hawas, R.1
Ren, Q.2
Ye, S.3
Karim, Z.A.4
Filipovich, A.H.5
Whiteheart, S.W.6
-
50
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
doi:10.1038/2424
-
Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 20:129-35. doi:10.1038/2424.
-
(1998)
Nat Genet
, vol.20
, pp. 129-135
-
-
Coffey, A.J.1
Brooksbank, R.A.2
Brandau, O.3
Oohashi, T.4
Howell, G.R.5
Bye, J.M.6
-
51
-
-
78149356369
-
X-linked lymphoproliferative syndromes: brothers or distant cousins?
-
doi:10.1182/blood-2010-03-275909
-
Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood (2010) 116(18):3398-408. doi:10.1182/blood-2010-03-275909.
-
(2010)
Blood
, vol.116
, Issue.18
, pp. 3398-3408
-
-
Filipovich, A.H.1
Zhang, K.2
Snow, A.L.3
Marsh, R.A.4
-
52
-
-
82455175808
-
Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP
-
doi:10.1371/journal.pbio.1001187
-
Palendira U, Low C, Chan A, Hislop AD, Ho E, Phan TG, et al. Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP. PLoS Biol (2011) 9(11):e1001187. doi:10.1371/journal.pbio.1001187.
-
(2011)
PLoS Biol
, vol.9
, Issue.11
-
-
Palendira, U.1
Low, C.2
Chan, A.3
Hislop, A.D.4
Ho, E.5
Phan, T.G.6
-
53
-
-
0034618065
-
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
-
doi:10.1084/jem.192.3.337
-
Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, et al. X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med (2000) 192:337-46. doi:10.1084/jem.192.3.337.
-
(2000)
J Exp Med
, vol.192
, pp. 337-346
-
-
Parolini, S.1
Bottino, C.2
Falco, M.3
Augugliaro, R.4
Giliani, S.5
Franceschini, R.6
-
54
-
-
78049368414
-
+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets
-
doi:10.1182/blood-2009-09-238832
-
+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood (2010) 116(17):3249-57. doi:10.1182/blood-2009-09-238832.
-
(2010)
Blood
, vol.116
, Issue.17
, pp. 3249-3257
-
-
Hislop, A.D.1
Palendira, U.2
Leese, A.M.3
Arkwright, P.D.4
Rohrlich, P.S.5
Tangye, S.G.6
-
56
-
-
78650000871
-
X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma
-
doi:10.1111/j.1365-2141.2010.08442.x
-
Rezaei N, Mahmoudi E, Aghamohammadi A, Das R, Nichols KE. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br J Haematol (2011) 152(1):13-30. doi:10.1111/j.1365-2141.2010.08442.x.
-
(2011)
Br J Haematol
, vol.152
, Issue.1
, pp. 13-30
-
-
Rezaei, N.1
Mahmoudi, E.2
Aghamohammadi, A.3
Das, R.4
Nichols, K.E.5
-
57
-
-
84896441172
-
XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells
-
doi:10.1002/eji.201344312.
-
Meazza R, Tuberosa C, Cetica V, Falco M, Loiacono F, Parolini S, et al. XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells. Eur J Immunol (2014). doi:10.1002/eji.201344312.
-
(2014)
Eur J Immunol
-
-
Meazza, R.1
Tuberosa, C.2
Cetica, V.3
Falco, M.4
Loiacono, F.5
Parolini, S.6
-
58
-
-
13144302865
-
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
-
doi:10.1111/j.0105-2896.2005.00230.x
-
Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev (2005) 203:180-99. doi:10.1111/j.0105-2896.2005.00230.x.
-
(2005)
Immunol Rev
, vol.203
, pp. 180-199
-
-
Nichols, K.E.1
Ma, C.S.2
Cannons, J.L.3
Schwartzberg, P.L.4
Tangye, S.G.5
-
59
-
-
78650984696
-
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
-
doi:10.1182/blood-2010-06-284935
-
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood (2011) 117:53-62. doi:10.1182/blood-2010-06-284935.
-
(2011)
Blood
, vol.117
, pp. 53-62
-
-
Booth, C.1
Gilmour, K.C.2
Veys, P.3
Gennery, A.R.4
Slatter, M.A.5
Chapel, H.6
-
60
-
-
0035865529
-
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene
-
doi:10.1182/blood.V97.4.1131
-
Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, Danesino C, et al. Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood (2001) 97(4):1131-3. doi:10.1182/blood.V97.4.1131.
-
(2001)
Blood
, vol.97
, Issue.4
, pp. 1131-1133
-
-
Arico, M.1
Imashuku, S.2
Clementi, R.3
Hibi, S.4
Teramura, T.5
Danesino, C.6
-
61
-
-
84871825463
-
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia
-
doi:10.1016/j.clim.2012.11.007
-
Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, et al. Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. Clin Immunol (2013) 146(2):84-9. doi:10.1016/j.clim.2012.11.007.
-
(2013)
Clin Immunol
, vol.146
, Issue.2
, pp. 84-89
-
-
Recher, M.1
Fried, A.J.2
Massaad, M.J.3
Kim, H.Y.4
Rizzini, M.5
Frugoni, F.6
-
62
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
doi:10.1038/nature05257
-
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 444:110-4. doi:10.1038/nature05257.
-
(2006)
Nature
, vol.444
, pp. 110-114
-
-
Rigaud, S.1
Fondanèche, M.C.2
Lambert, N.3
Pasquier, B.4
Mateo, V.5
Soulas, P.6
-
63
-
-
84880774323
-
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling
-
doi:10.1002/emmm.201303090
-
Damgaard RB, Fiil BK, Speckmann C, Yabal M, zur Stadt U, Bekker-Jensen S, et al. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling. EMBO Mol Med (2013) 5(8):1278-95. doi:10.1002/emmm.201303090.
-
(2013)
EMBO Mol Med
, vol.5
, Issue.8
, pp. 1278-1295
-
-
Damgaard, R.B.1
Fiil, B.K.2
Speckmann, C.3
Yabal, M.4
zur Stadt, U.5
Bekker-Jensen, S.6
-
64
-
-
79551644967
-
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
-
doi:10.1182/blood-2010-07-298372
-
Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood (2011) 117:1522-9. doi:10.1182/blood-2010-07-298372.
-
(2011)
Blood
, vol.117
, pp. 1522-1529
-
-
Pachlopnik Schmid, J.1
Canioni, D.2
Moshous, D.3
Touzot, F.4
Mahlaoui, N.5
Hauck, F.6
-
65
-
-
77956508441
-
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
-
doi:10.1182/blood-2010-01-256099
-
Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood (2010) 116:1079-82. doi:10.1182/blood-2010-01-256099.
-
(2010)
Blood
, vol.116
, pp. 1079-1082
-
-
Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
Mody, R.4
McClimon, B.5
Jordan, M.B.6
-
66
-
-
84883228121
-
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis
-
doi:10.1016/j.clim.2013.07.004
-
Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol (2013) 149(1):133-41. doi:10.1016/j.clim.2013.07.004.
-
(2013)
Clin Immunol
, vol.149
, Issue.1
, pp. 133-141
-
-
Speckmann, C.1
Lehmberg, K.2
Albert, M.H.3
Damgaard, R.B.4
Fritsch, M.5
Gyrd-Hansen, M.6
-
67
-
-
67349171083
-
Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations
-
doi:10.1016/j.clim.2009.03.517
-
Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, et al. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol (2009) 132(1):116-23. doi:10.1016/j.clim.2009.03.517.
-
(2009)
Clin Immunol
, vol.132
, Issue.1
, pp. 116-123
-
-
Marsh, R.A.1
Villanueva, J.2
Kim, M.O.3
Zhang, K.4
Marmer, D.5
Risma, K.A.6
-
68
-
-
84885730018
-
An intermediate alemtuzumab schedule reduces the incidence of mixed chimerism following reduced-intensity conditioning hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis
-
doi:10.1016/j.bbmt.2013.09.001
-
Marsh RA, Kim MO, Liu C, Bellman D, Hart L, Grimley M, et al. An intermediate alemtuzumab schedule reduces the incidence of mixed chimerism following reduced-intensity conditioning hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Biol Blood Marrow Transplant (2013) 19:1625-31. doi:10.1016/j.bbmt.2013.09.001.
-
(2013)
Biol Blood Marrow Transplant
, vol.19
, pp. 1625-1631
-
-
Marsh, R.A.1
Kim, M.O.2
Liu, C.3
Bellman, D.4
Hart, L.5
Grimley, M.6
-
69
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
doi:10.1038/382262a0
-
Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature (1996) 382:262-5. doi:10.1038/382262a0.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.1
Barrat, F.J.2
Tchernev, V.T.3
Nguyen, Q.A.4
Mishra, V.S.5
Colman, S.D.6
-
70
-
-
84924838625
-
New leukocyte anomaly of constitutional and familial character
-
Chediak MM. New leukocyte anomaly of constitutional and familial character. Rev Hematol (1952) 7:362-7.
-
(1952)
Rev Hematol
, vol.7
, pp. 362-367
-
-
Chediak, M.M.1
-
71
-
-
0001021096
-
Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormality of peroxidase
-
doi:10.1620/tjem.59.315
-
Higashi O. Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormality of peroxidase. Tohoku J Exp Med (1954) 59:315-32. doi:10.1620/tjem.59.315.
-
(1954)
Tohoku J Exp Med
, vol.59
, pp. 315-332
-
-
Higashi, O.1
-
72
-
-
0032729471
-
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
-
doi:10.1006/mgme.1999.2927
-
Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab (1999) 68:283-303. doi:10.1006/mgme.1999.2927.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 283-303
-
-
Introne, W.1
Boissy, R.E.2
Gahl, W.A.3
-
73
-
-
18244405827
-
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
-
doi:10.1002/ajmg.10184.abs
-
Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet (2002) 108(1):16-22. doi:10.1002/ajmg.10184.abs.
-
(2002)
Am J Med Genet
, vol.108
, Issue.1
, pp. 16-22
-
-
Karim, M.A.1
Suzuki, K.2
Fukai, K.3
Oh, J.4
Nagle, D.L.5
Moore, K.J.6
-
74
-
-
84905590433
-
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
-
doi:10.1136/jnnp-2013-306981.
-
Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, et al. Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. J Neurol Neurosurg Psychiatry (2014). doi:10.1136/jnnp-2013-306981.
-
(2014)
J Neurol Neurosurg Psychiatry
-
-
Shimazaki, H.1
Honda, J.2
Naoi, T.3
Namekawa, M.4
Nakano, I.5
Yazaki, M.6
-
75
-
-
0018086099
-
A syndrome associating partial albinism and immunodeficiency
-
doi:10.1016/0002-9343(78)90858-6
-
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med (1978) 65:691-702. doi:10.1016/0002-9343(78)90858-6.
-
(1978)
Am J Med
, vol.65
, pp. 691-702
-
-
Griscelli, C.1
Durandy, A.2
Guy-Grand, D.3
Daguillard, F.4
Herzog, C.5
Prunieras, M.6
-
76
-
-
33947538274
-
Rab27a regulates phagosomal pH and NADPH oxidase recruitment to dendritic cell phagosomes
-
doi:10.1038/ncb1552
-
Jancic C, Savina A, Wasmeier C, Tolmachova T, El-Benna J, Dang PM, et al. Rab27a regulates phagosomal pH and NADPH oxidase recruitment to dendritic cell phagosomes. Nat Cell Biol (2007) 9(4):367-78. doi:10.1038/ncb1552.
-
(2007)
Nat Cell Biol
, vol.9
, Issue.4
, pp. 367-378
-
-
Jancic, C.1
Savina, A.2
Wasmeier, C.3
Tolmachova, T.4
El-Benna, J.5
Dang, P.M.6
-
77
-
-
77649154766
-
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
-
doi:10.1002/pbc.22357
-
Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, et al. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer (2010) 54(4):563-72. doi:10.1002/pbc.22357.
-
(2010)
Pediatr Blood Cancer
, vol.54
, Issue.4
, pp. 563-572
-
-
Meeths, M.1
Bryceson, Y.T.2
Rudd, E.3
Zheng, C.4
Wood, S.M.5
Ramme, K.6
-
78
-
-
6444236367
-
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies
-
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood (1959) 14:162-9.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
79
-
-
84885491694
-
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
-
doi:10.1186/1750-1172-8-168
-
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis (2013) 8:168. doi:10.1186/1750-1172-8-168.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 168
-
-
Dotta, L.1
Parolini, S.2
Prandini, A.3
Tabellini, G.4
Antolini, M.5
Kingsmore, S.F.6
-
80
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
-
doi:10.1016/S1097-2765(00)80170-7
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell (1999) 3:11-21. doi:10.1016/S1097-2765(00)80170-7.
-
(1999)
Mol Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
Gahl, W.A.4
Bonifacino, J.S.5
-
81
-
-
84875688885
-
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
-
doi:10.1186/1471-2350-14-42
-
Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, et al. Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. BMC Med Genet (2013) 14:42. doi:10.1186/1471-2350-14-42.
-
(2013)
BMC Med Genet
, vol.14
, pp. 42
-
-
Jones, M.L.1
Murden, S.L.2
Brooks, C.3
Maloney, V.4
Manning, R.A.5
Gilmour, K.C.6
-
82
-
-
33745633063
-
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
-
doi:10.1182/blood-2005-11-4413
-
Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood (2006) 108:81-7. doi:10.1182/blood-2005-11-4413.
-
(2006)
Blood
, vol.108
, pp. 81-87
-
-
Enders, A.1
Zieger, B.2
Schwarz, K.3
Yoshimi, A.4
Speckmann, C.5
Knoepfle, E.M.6
-
83
-
-
84879456568
-
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
-
doi:10.1182/blood-2012-10-463166
-
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood (2013) 121(15):2943-51. doi:10.1182/blood-2012-10-463166.
-
(2013)
Blood
, vol.121
, Issue.15
, pp. 2943-2951
-
-
Jessen, B.1
Bode, S.F.2
Ammann, S.3
Chakravorty, S.4
Davies, G.5
Diestelhorst, J.6
-
84
-
-
0029879812
-
Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society
-
Arico M, Janka G, Fischer A, Henter JI, Blanche S, Elinder G, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia (1996) 10:197-203.
-
(1996)
Leukemia
, vol.10
, pp. 197-203
-
-
Arico, M.1
Janka, G.2
Fischer, A.3
Henter, J.I.4
Blanche, S.5
Elinder, G.6
-
85
-
-
84857870231
-
Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement
-
doi:10.1002/pbc.23405
-
Rego I, Severino M, Micalizzi C, Faraci M, Pende D, Dufour C, et al. Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement. Pediatr Blood Cancer (2012) 58(5):810-4. doi:10.1002/pbc.23405.
-
(2012)
Pediatr Blood Cancer
, vol.58
, Issue.5
, pp. 810-814
-
-
Rego, I.1
Severino, M.2
Micalizzi, C.3
Faraci, M.4
Pende, D.5
Dufour, C.6
-
86
-
-
84861526602
-
Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children
-
doi:10.1016/j.jpeds.2011.11.046
-
Xu XJ, Tang YM, Song H, Yang SL, Xu WQ, Zhao N, et al. Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children. J Pediatr (2012) 160(6):984-90.e1. doi:10.1016/j.jpeds.2011.11.046.
-
(2012)
J Pediatr
, vol.160
, Issue.6
-
-
Xu, X.J.1
Tang, Y.M.2
Song, H.3
Yang, S.L.4
Xu, W.Q.5
Zhao, N.6
-
87
-
-
84890550344
-
Differential clinical characteristics of acute liver 15 failure caused by hemophagocytic lymphohistiocytosis in children
-
doi:10.1111/ped.12181
-
Ryu JM, Kim KM, Oh SH, Koh KN, Im HJ, Park CJ, et al. Differential clinical characteristics of acute liver 15 failure caused by hemophagocytic lymphohistiocytosis in children. Pediatr Int (2013) 55:748-52. doi:10.1111/ped.12181.
-
(2013)
Pediatr Int
, vol.55
, pp. 748-752
-
-
Ryu, J.M.1
Kim, K.M.2
Oh, S.H.3
Koh, K.N.4
Im, H.J.5
Park, C.J.6
-
88
-
-
33845619137
-
HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
doi:10.1002/pbc.21039
-
Henter JI, Horne A, Aricò M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer (2007) 48:124-31. doi:10.1002/pbc.21039.
-
(2007)
Pediatr Blood Cancer
, vol.48
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Aricò, M.3
Egeler, R.M.4
Filipovich, A.H.5
Imashuku, S.6
-
89
-
-
0035345280
-
Familial hemophagocytic lymphohistiocytosis: how late can the onset be?
-
Allen M, De Fusco C, Legrand F, Clementi R, Conter V, Danesino C, et al. Familial hemophagocytic lymphohistiocytosis: how late can the onset be? Haematologica (2001) 86:499-503.
-
(2001)
Haematologica
, vol.86
, pp. 499-503
-
-
Allen, M.1
De Fusco, C.2
Legrand, F.3
Clementi, R.4
Conter, V.5
Danesino, C.6
-
90
-
-
84896696169
-
Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report
-
doi:10.1097/MPH.0b013e318292bc7c
-
Manno EC, Salfa I, Palma P, Bertaina A, Lombardi A, Moretta F, et al. Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. J Pediatr Hematol Oncol (2014) 36(2):e128-30. doi:10.1097/MPH.0b013e318292bc7c.
-
(2014)
J Pediatr Hematol Oncol
, vol.36
, Issue.2
-
-
Manno, E.C.1
Salfa, I.2
Palma, P.3
Bertaina, A.4
Lombardi, A.5
Moretta, F.6
-
91
-
-
0037105371
-
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
-
doi:10.1182/blood-2002-04-1030
-
Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, et al. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood (2002) 100(6):2266-7. doi:10.1182/blood-2002-04-1030.
-
(2002)
Blood
, vol.100
, Issue.6
, pp. 2266-2267
-
-
Clementi, R.1
Emmi, L.2
Maccario, R.3
Liotta, F.4
Moretta, L.5
Danesino, C.6
-
92
-
-
84866087810
-
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series
-
doi:10.1371/journal.pone.0044649
-
Sieni E, Cetica V, Piccin A, Gherlinzoni F, Sasso FC, Rabusin M, et al. Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. PLoS One (2012) 7(9):e44649. doi:10.1371/journal.pone.0044649.
-
(2012)
PLoS One
, vol.7
, Issue.9
-
-
Sieni, E.1
Cetica, V.2
Piccin, A.3
Gherlinzoni, F.4
Sasso, F.C.5
Rabusin, M.6
-
93
-
-
0034293190
-
Hemophagocytic syndrome: a misleading complication of visceral leishmaniasis in children-a series of 12 cases
-
doi:10.1542/peds.106.4.e58
-
Gagnaire MH, Galambrun C, Stéphan JL. Hemophagocytic syndrome: a misleading complication of visceral leishmaniasis in children-a series of 12 cases. Pediatrics (2000) 106:E58. doi:10.1542/peds.106.4.e58.
-
(2000)
Pediatrics
, vol.106
-
-
Gagnaire, M.H.1
Galambrun, C.2
Stéphan, J.L.3
-
94
-
-
84858812138
-
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
-
doi:10.1182/blood-2011-08-374199
-
Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood (2012) 119(12):2754-63. doi:10.1182/blood-2011-08-374199.
-
(2012)
Blood
, vol.119
, Issue.12
, pp. 2754-2763
-
-
Bryceson, Y.T.1
Pende, D.2
Maul-Pavicic, A.3
Gilmour, K.C.4
Ufheil, H.5
Vraetz, T.6
-
95
-
-
33749349937
-
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease
-
doi:10.1182/blood-2006-04-015693
-
Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Aricó M, et al. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood (2006) 108:2316-23. doi:10.1182/blood-2006-04-015693.
-
(2006)
Blood
, vol.108
, pp. 2316-2323
-
-
Marcenaro, S.1
Gallo, F.2
Martini, S.3
Santoro, A.4
Griffiths, G.M.5
Aricó, M.6
-
96
-
-
80055079785
-
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol
-
doi:10.1182/blood-2011-06-356261
-
Trottestam H, Horne A, Aricò M, Egeler RM, Filipovich AH, Gadner H, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood (2011) 118(17):4577-84. doi:10.1182/blood-2011-06-356261.
-
(2011)
Blood
, vol.118
, Issue.17
, pp. 4577-4584
-
-
Trottestam, H.1
Horne, A.2
Aricò, M.3
Egeler, R.M.4
Filipovich, A.H.5
Gadner, H.6
-
97
-
-
31544463005
-
Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis
-
doi:10.1182/blood-2005-05-1819
-
Cooper N, Rao K, Gilmour K, Hadad L, Adams S, Cale C, et al. Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood (2006) 107:1233-6. doi:10.1182/blood-2005-05-1819.
-
(2006)
Blood
, vol.107
, pp. 1233-1236
-
-
Cooper, N.1
Rao, K.2
Gilmour, K.3
Hadad, L.4
Adams, S.5
Cale, C.6
-
98
-
-
78650637431
-
Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation
-
doi:10.1182/blood-2010-04-282392
-
Marsh RA, Vaughn G, Kim MO, Li D, Jodele S, Joshi S, et al. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood (2010) 116:5824-31. doi:10.1182/blood-2010-04-282392.
-
(2010)
Blood
, vol.116
, pp. 5824-5831
-
-
Marsh, R.A.1
Vaughn, G.2
Kim, M.O.3
Li, D.4
Jodele, S.5
Joshi, S.6
-
99
-
-
84873606153
-
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
-
doi:10.1182/blood-2012-06-432500
-
Marsh RA, Rao K, Satwani P, Lehmberg K, Müller I, Li D, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood (2013) 121:877-83. doi:10.1182/blood-2012-06-432500.
-
(2013)
Blood
, vol.121
, pp. 877-883
-
-
Marsh, R.A.1
Rao, K.2
Satwani, P.3
Lehmberg, K.4
Müller, I.5
Li, D.6
-
100
-
-
84891505988
-
Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice
-
doi:10.1182/blood-2013-06-508143
-
Terrell CE, Jordan MB. Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice. Blood (2013) 122:2618-21. doi:10.1182/blood-2013-06-508143.
-
(2013)
Blood
, vol.122
, pp. 2618-2621
-
-
Terrell, C.E.1
Jordan, M.B.2
-
101
-
-
33746946533
-
Split chimerism may be enough to cure Evans syndrome
-
doi:10.1038/sj.bmt.1705427
-
Caselli D, Farruggia P, Trizzino A, Cannella S, Santoro A, Locatelli F, et al. Split chimerism may be enough to cure Evans syndrome. Bone Marrow Transplant (2006) 38:311. doi:10.1038/sj.bmt.1705427.
-
(2006)
Bone Marrow Transplant
, vol.38
, pp. 311
-
-
Caselli, D.1
Farruggia, P.2
Trizzino, A.3
Cannella, S.4
Santoro, A.5
Locatelli, F.6
-
102
-
-
0027496475
-
Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A
-
Stéphan JL, Donadieu J, Ledeist F, Blanche S, Griscelli C, Fischer A. Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A. Blood (1993) 82:2319-23.
-
(1993)
Blood
, vol.82
, pp. 2319-2323
-
-
Stéphan, J.L.1
Donadieu, J.2
Ledeist, F.3
Blanche, S.4
Griscelli, C.5
Fischer, A.6
-
103
-
-
34548384442
-
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients
-
doi:10.1542/peds.2006-3164
-
Mahlaoui N, Ouachée-Chardin M, de Saint Basile G, Neven B, Picard C, Blanche S, et al. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics (2007) 120(3):e622-8. doi:10.1542/peds.2006-3164.
-
(2007)
Pediatrics
, vol.120
, Issue.3
-
-
Mahlaoui, N.1
Ouachée-Chardin, M.2
de Saint Basile, G.3
Neven, B.4
Picard, C.5
Blanche, S.6
-
104
-
-
84874078294
-
SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease
-
doi:10.1182/blood-2012-07-445858
-
Rivat C, Booth C, Alonso-Ferrero M, Blundell M, Sebire NJ, Thrasher AJ, et al. SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood (2013) 121(7):1073-6. doi:10.1182/blood-2012-07-445858.
-
(2013)
Blood
, vol.121
, Issue.7
, pp. 1073-1076
-
-
Rivat, C.1
Booth, C.2
Alonso-Ferrero, M.3
Blundell, M.4
Sebire, N.J.5
Thrasher, A.J.6
-
105
-
-
18144367693
-
Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
-
doi:10.1016/j.jpeds.2004.12.016
-
Ravelli A, Magni-Manzoni S, Pistorio A, Besana C, Foti T, Ruperto N, et al. Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Pediatr (2005) 146(5):598-604. doi:10.1016/j.jpeds.2004.12.016.
-
(2005)
J Pediatr
, vol.146
, Issue.5
, pp. 598-604
-
-
Ravelli, A.1
Magni-Manzoni, S.2
Pistorio, A.3
Besana, C.4
Foti, T.5
Ruperto, N.6
-
106
-
-
0035511981
-
Macrophage activation syndrome: a potentially fatal complication of rheumatic disorders
-
doi:10.1136/adc.85.5.421
-
Sawhney S, Woo P, Murray KJ. Macrophage activation syndrome: a potentially fatal complication of rheumatic disorders. Arch Dis Child (2001) 85:421-6. doi:10.1136/adc.85.5.421.
-
(2001)
Arch Dis Child
, vol.85
, pp. 421-426
-
-
Sawhney, S.1
Woo, P.2
Murray, K.J.3
-
107
-
-
77955172764
-
Macrophage activation syndrome: advances towards understanding pathogenesis
-
doi:10.1097/01.bor.0000381996.69261.71
-
Grom AA, Mellins ED. Macrophage activation syndrome: advances towards understanding pathogenesis. Curr Opin Rheumatol (2010) 22(5):561-6. doi:10.1097/01.bor.0000381996.69261.71.
-
(2010)
Curr Opin Rheumatol
, vol.22
, Issue.5
, pp. 561-566
-
-
Grom, A.A.1
Mellins, E.D.2
-
108
-
-
84861685616
-
Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment
-
doi:10.1038/gene.2012.3
-
Ravelli A, Grom AA, Behrens EM, Cron RQ. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment. Genes Immun (2012) 13(4):289-98. doi:10.1038/gene.2012.3.
-
(2012)
Genes Immun
, vol.13
, Issue.4
, pp. 289-298
-
-
Ravelli, A.1
Grom, A.A.2
Behrens, E.M.3
Cron, R.Q.4
-
109
-
-
0037293064
-
Reduced perforin expression in systemic juvenile idiopathic arthritis is restored by autologous stem-cell transplantation
-
doi:10.1093/rheumatology/keg074
-
Wulffraat NM, Rijkers GT, Elst E, Brooimans R, Kuis W. Reduced perforin expression in systemic juvenile idiopathic arthritis is restored by autologous stem-cell transplantation. Rheumatology (Oxford) (2003) 42(2):375-9. doi:10.1093/rheumatology/keg074.
-
(2003)
Rheumatology (Oxford)
, vol.42
, Issue.2
, pp. 375-379
-
-
Wulffraat, N.M.1
Rijkers, G.T.2
Elst, E.3
Brooimans, R.4
Kuis, W.5
-
110
-
-
21744452702
-
Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome
-
doi:10.1186/ar1551
-
Villanueva J, Lee S, Giannini EH, Graham TB, Passo MH, Filipovich A, et al. Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res Ther (2005) 7:R30-7. doi:10.1186/ar1551.
-
(2005)
Arthritis Res Ther
, vol.7
-
-
Villanueva, J.1
Lee, S.2
Giannini, E.H.3
Graham, T.B.4
Passo, M.H.5
Filipovich, A.6
-
111
-
-
84880303609
-
Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis
-
doi:10.1097/MPH.0b013e31827b4859
-
Unal S, Balta G, Okur H, Aytac S, Cetin M, Gumruk F, et al. Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis. J Pediatr Hematol Oncol (2013) 35(5):e205-8. doi:10.1097/MPH.0b013e31827b4859.
-
(2013)
J Pediatr Hematol Oncol
, vol.35
, Issue.5
-
-
Unal, S.1
Balta, G.2
Okur, H.3
Aytac, S.4
Cetin, M.5
Gumruk, F.6
-
112
-
-
34249812697
-
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
-
doi:10.1002/ajh.20878
-
Ueda I, Kurokawa Y, Koike K, Ito S, Sakata A, Matsumora T, et al. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol (2007) 82(6):427-32. doi:10.1002/ajh.20878.
-
(2007)
Am J Hematol
, vol.82
, Issue.6
, pp. 427-432
-
-
Ueda, I.1
Kurokawa, Y.2
Koike, K.3
Ito, S.4
Sakata, A.5
Matsumora, T.6
-
113
-
-
84863982295
-
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease
-
doi:10.1007/s10875-012-9680-5
-
Sánchez IP, Leal-Esteban LC, Álvarez-Álvarez JA, Pérez-Romero CA, Orrego JC, Serna ML, et al. Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. J Clin Immunol (2012) 32(4):670-80. doi:10.1007/s10875-012-9680-5.
-
(2012)
J Clin Immunol
, vol.32
, Issue.4
, pp. 670-680
-
-
Sánchez, I.P.1
Leal-Esteban, L.C.2
Álvarez-Álvarez, J.A.3
Pérez-Romero, C.A.4
Orrego, J.C.5
Serna, M.L.6
-
114
-
-
33748796888
-
Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection
-
Mancebo E, Allende LM, Guzmán M, Paz-Artal E, Gil J, Urrea-Moreno R, et al. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. Haematologica (2006) 91(9):1257-60.
-
(2006)
Haematologica
, vol.91
, Issue.9
, pp. 1257-1260
-
-
Mancebo, E.1
Allende, L.M.2
Guzmán, M.3
Paz-Artal, E.4
Gil, J.5
Urrea-Moreno, R.6
-
115
-
-
34548723841
-
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis
-
doi:10.3324/haematol.11233
-
Nagafuji K, Nonami A, Kumano T, Kikushige Y, Yoshimoto G, Takenaka K, et al. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. Haematologica (2007) 92(7):978-81. doi:10.3324/haematol.11233.
-
(2007)
Haematologica
, vol.92
, Issue.7
, pp. 978-981
-
-
Nagafuji, K.1
Nonami, A.2
Kumano, T.3
Kikushige, Y.4
Yoshimoto, G.5
Takenaka, K.6
-
116
-
-
84874100105
-
Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis
-
doi:10.1182/blood-2012-05-425769
-
Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, et al. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood (2013) 121:e14-24. doi:10.1182/blood-2012-05-425769.
-
(2013)
Blood
, vol.121
-
-
Sumegi, J.1
Nestheide, S.V.2
Barnes, M.G.3
Villanueva, J.4
Zhang, K.5
Grom, A.A.6
-
117
-
-
84856703484
-
Genetic variation in cell death genes and risk of non-Hodgkin lymphoma
-
doi:10.1371/journal.pone.0031560
-
Schuetz JM, Daley D, Graham J, Berry BR, Gallagher RP, Connors JM, et al. Genetic variation in cell death genes and risk of non-Hodgkin lymphoma. PLoS One (2012) 7(2):e31560. doi:10.1371/journal.pone.0031560.
-
(2012)
PLoS One
, vol.7
, Issue.2
-
-
Schuetz, J.M.1
Daley, D.2
Graham, J.3
Berry, B.R.4
Gallagher, R.P.5
Connors, J.M.6
-
118
-
-
0025034736
-
Peripheral T-cell lymphoma associated with hemophagocytic syndrome
-
Falini B, Pileri S, De Solas I, Martelli MF, Mason DY, Delsol G, et al. Peripheral T-cell lymphoma associated with hemophagocytic syndrome. Blood (1990) 75(2):434-44.
-
(1990)
Blood
, vol.75
, Issue.2
, pp. 434-444
-
-
Falini, B.1
Pileri, S.2
De Solas, I.3
Martelli, M.F.4
Mason, D.Y.5
Delsol, G.6
-
119
-
-
0025258440
-
Peripheral T-cell lymphoma associated with hemophagocytic syndrome and hemophagocytic lymphohistiocytosis of children: do they share something?
-
Aricò M. Peripheral T-cell lymphoma associated with hemophagocytic syndrome and hemophagocytic lymphohistiocytosis of children: do they share something? Blood (1990) 76(10):2163-4.
-
(1990)
Blood
, vol.76
, Issue.10
, pp. 2163-2164
-
-
Aricò, M.1
-
120
-
-
84862142857
-
Molecular study of the perforin genein familial hematological malignancies
-
doi:10.1186/1897-4287-9-9
-
El Abed R, Bourdon V, Voskoboinik I, Omri H, Youssef YB, Laatiri MA, et al. Molecular study of the perforin genein familial hematological malignancies. Hered Cancer Clin Pract (2011) 9(1):9. doi:10.1186/1897-4287-9-9.
-
(2011)
Hered Cancer Clin Pract
, vol.9
, Issue.1
, pp. 9
-
-
El Abed, R.1
Bourdon, V.2
Voskoboinik, I.3
Omri, H.4
Youssef, Y.B.5
Laatiri, M.A.6
-
121
-
-
33751238534
-
Perforin A91V polymorphism and putative susceptibility to hematological malignancies
-
doi:10.1038/sj.leu.2404433
-
Muralitharan S, Wali Y, Pathare AV. Perforin A91V polymorphism and putative susceptibility to hematological malignancies. Leukemia (2006) 20(12):2178. doi:10.1038/sj.leu.2404433.
-
(2006)
Leukemia
, vol.20
, Issue.12
, pp. 2178
-
-
Muralitharan, S.1
Wali, Y.2
Pathare, A.V.3
-
122
-
-
4644229431
-
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma
-
doi:10.1056/NEJMoa041432
-
Clementi R, Dagna L, Dianzani U, Dupré L, Dianzani I, Ponzoni M, et al. Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med (2004) 351(14):1419-24. doi:10.1056/NEJMoa041432.
-
(2004)
N Engl J Med
, vol.351
, Issue.14
, pp. 1419-1424
-
-
Clementi, R.1
Dagna, L.2
Dianzani, U.3
Dupré, L.4
Dianzani, I.5
Ponzoni, M.6
-
123
-
-
21144435788
-
A proportion of patients with lymphoma may harbor mutations of the perforin gene
-
doi:10.1182/blood-2004-04-1477
-
Clementi R, Locatelli F, Dupré L, Garaventa A, Emmi L, Bregni M, et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood (2005) 105(11):4424-8. doi:10.1182/blood-2004-04-1477.
-
(2005)
Blood
, vol.105
, Issue.11
, pp. 4424-4428
-
-
Clementi, R.1
Locatelli, F.2
Dupré, L.3
Garaventa, A.4
Emmi, L.5
Bregni, M.6
-
124
-
-
34250189190
-
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma
-
doi:10.1002/cncr.22718
-
Cannella S, Santoro A, Bruno G, Pillon M, Mussolin L, Mangili G, et al. Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma. Cancer (2007) 109(12):2566-71. doi:10.1002/cncr.22718.
-
(2007)
Cancer
, vol.109
, Issue.12
, pp. 2566-2571
-
-
Cannella, S.1
Santoro, A.2
Bruno, G.3
Pillon, M.4
Mussolin, L.5
Mangili, G.6
-
125
-
-
84905113173
-
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma
-
doi:10.1097/MPH.0000000000000073.
-
Ciambotti B, Mussolin L, d'Amore ES, Pillon M, Sieni E, Coniglio ML, et al. Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma. J Pediatr Hematol Oncol (2013). doi:10.1097/MPH.0000000000000073.
-
(2013)
J Pediatr Hematol Oncol
-
-
Ciambotti, B.1
Mussolin, L.2
d'Amore, E.S.3
Pillon, M.4
Sieni, E.5
Coniglio, M.L.6
-
126
-
-
84880326475
-
Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms
-
doi:10.1002/pbc.24525
-
Sandlund JT, Shurtleff SA, Onciu M, Horwitz E, Leung W, Howard V, et al. Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms. Pediatr Blood Cancer (2013) 60:E85-7. doi:10.1002/pbc.24525.
-
(2013)
Pediatr Blood Cancer
, vol.60
-
-
Sandlund, J.T.1
Shurtleff, S.A.2
Onciu, M.3
Horwitz, E.4
Leung, W.5
Howard, V.6
-
127
-
-
33747618010
-
Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group
-
doi:10.1038/sj.leu.2404299
-
Mehta PA, Davies SM, Kumar A, Devidas M, Lee S, Zamzow T, et al. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Leukemia (2006) 20(9):1539-41. doi:10.1038/sj.leu.2404299.
-
(2006)
Leukemia
, vol.20
, Issue.9
, pp. 1539-1541
-
-
Mehta, P.A.1
Davies, S.M.2
Kumar, A.3
Devidas, M.4
Lee, S.5
Zamzow, T.6
-
128
-
-
67649836342
-
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer
-
doi:10.1073/pnas.0903815106
-
Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc Natl Acad Sci U S A (2009) 106(24):9809-14. doi:10.1073/pnas.0903815106.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.24
, pp. 9809-9814
-
-
Chia, J.1
Yeo, K.P.2
Whisstock, J.C.3
Dunstone, M.A.4
Trapani, J.A.5
Voskoboinik, I.6
-
129
-
-
62449284688
-
Perforin-mediated suppression of B-cell lymphoma
-
doi:10.1073/pnas.0809008106
-
Bolitho P, Street SE, Westwood JA, Edelmann W, Macgregor D, Waring P, et al. Perforin-mediated suppression of B-cell lymphoma. Proc Natl Acad Sci U S A (2009) 106(8):2723-8. doi:10.1073/pnas.0809008106.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.8
, pp. 2723-2728
-
-
Bolitho, P.1
Street, S.E.2
Westwood, J.A.3
Edelmann, W.4
Macgregor, D.5
Waring, P.6
-
130
-
-
33751187119
-
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function
-
doi:10.1182/blood-2006-02-001412
-
Clementi R, Chiocchetti A, Cappellano G, Cerutti E, Ferretti M, Orilieri E, et al. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood (2006) 108:3079-84. doi:10.1182/blood-2006-02-001412.
-
(2006)
Blood
, vol.108
, pp. 3079-3084
-
-
Clementi, R.1
Chiocchetti, A.2
Cappellano, G.3
Cerutti, E.4
Ferretti, M.5
Orilieri, E.6
-
131
-
-
84879709770
-
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome
-
doi:10.1371/journal.pone.0068045
-
Aricò M, Boggio E, Cetica V, Melensi M, Orilieri E, Clemente N, et al. Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PLoS One (2013) 8(7):e68045. doi:10.1371/journal.pone.0068045.
-
(2013)
PLoS One
, vol.8
, Issue.7
-
-
Aricò, M.1
Boggio, E.2
Cetica, V.3
Melensi, M.4
Orilieri, E.5
Clemente, N.6
-
132
-
-
29644436116
-
A signal adaptor SLAM-associated protein regulates spontaneous autoimmunity and Fas-dependent lymphoproliferation in MRL-Fas lpr lupus mice
-
Komori H, Furukawa H, Mori S, Ito MR, Terada M, Zhang MC, et al. A signal adaptor SLAM-associated protein regulates spontaneous autoimmunity and Fas-dependent lymphoproliferation in MRL-Fas lpr lupus mice. J Immunol (2006) 176:395-400.
-
(2006)
J Immunol
, vol.176
, pp. 395-400
-
-
Komori, H.1
Furukawa, H.2
Mori, S.3
Ito, M.R.4
Terada, M.5
Zhang, M.C.6
-
133
-
-
84860233619
-
The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function
-
doi:10.1016/j.humimm.2012.02.025
-
Boggio E, Melensi M, Bocca S, Chiocchetti A, Comi C, Clemente N, et al. The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. Hum Immunol (2012) 73(5):585-92. doi:10.1016/j.humimm.2012.02.025.
-
(2012)
Hum Immunol
, vol.73
, Issue.5
, pp. 585-592
-
-
Boggio, E.1
Melensi, M.2
Bocca, S.3
Chiocchetti, A.4
Comi, C.5
Clemente, N.6
-
134
-
-
48349133309
-
Variations of the perforin gene in patients with multiple sclerosis
-
doi:10.1038/gene.2008.35
-
Cappellano G, Orilieri E, Comi C, Chiocchetti A, Bocca S, Boggio E, et al. Variations of the perforin gene in patients with multiple sclerosis. Genes Immun (2008) 9:438-44. doi:10.1038/gene.2008.35.
-
(2008)
Genes Immun
, vol.9
, pp. 438-444
-
-
Cappellano, G.1
Orilieri, E.2
Comi, C.3
Chiocchetti, A.4
Bocca, S.5
Boggio, E.6
-
135
-
-
39749185953
-
Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis
-
doi:10.1002/art.23199
-
Hazen MM, Woodward AL, Hofmann I, Degar BA, Grom A, Filipovich AH, et al. Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. Arthritis Rheum (2008) 58:567-70. doi:10.1002/art.23199.
-
(2008)
Arthritis Rheum
, vol.58
, pp. 567-570
-
-
Hazen, M.M.1
Woodward, A.L.2
Hofmann, I.3
Degar, B.A.4
Grom, A.5
Filipovich, A.H.6
-
136
-
-
49749127387
-
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms
-
doi:10.1002/art.23734
-
Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum (2008) 58(9):2892-6. doi:10.1002/art.23734.
-
(2008)
Arthritis Rheum
, vol.58
, Issue.9
, pp. 2892-2896
-
-
Zhang, K.1
Biroschak, J.2
Glass, D.N.3
Thompson, S.D.4
Finkel, T.5
Passo, M.H.6
-
137
-
-
77950531755
-
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis
-
doi:10.1093/rheumatology/kep418
-
Vastert SJ, van Wijk R, D'Urbano LE, de Vooght KM, de Jager W, Ravelli A, et al. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. Rheumatology (Oxford) (2010) 49(3):441-9. doi:10.1093/rheumatology/kep418.
-
(2010)
Rheumatology (Oxford)
, vol.49
, Issue.3
, pp. 441-449
-
-
Vastert, S.J.1
van Wijk, R.2
D'Urbano, L.E.3
de Vooght, K.M.4
de Jager, W.5
Ravelli, A.6
-
138
-
-
33947158178
-
Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girl
-
doi:10.1002/art.22442
-
Moshous D, Feyen O, Lankisch P, Schwarz K, Schaper J, Schneider M, et al. Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girl. Arthritis Rheum (2007) 56(3):995-9. doi:10.1002/art.22442.
-
(2007)
Arthritis Rheum
, vol.56
, Issue.3
, pp. 995-999
-
-
Moshous, D.1
Feyen, O.2
Lankisch, P.3
Schwarz, K.4
Schaper, J.5
Schneider, M.6
-
139
-
-
35348993736
-
Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation
-
doi:10.1136/jcp.2007.049551
-
Chen RL, Hsu YH, Ueda I, Imashuku S, Takeuchi K, Tu BP, et al. Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation. J Clin Pathol (2007) 60(10):1168-9. doi:10.1136/jcp.2007.049551.
-
(2007)
J Clin Pathol
, vol.60
, Issue.10
, pp. 1168-1169
-
-
Chen, R.L.1
Hsu, Y.H.2
Ueda, I.3
Imashuku, S.4
Takeuchi, K.5
Tu, B.P.6
-
140
-
-
84897978600
-
Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle
-
doi:10.1186/1824-7288-40-17
-
Pasqualini C, Jorini M, Carloni I, Giangiacomi M, Cetica V, Aricò M, et al. Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle. Ital J Pediatr (2014) 40(1):17. doi:10.1186/1824-7288-40-17.
-
(2014)
Ital J Pediatr
, vol.40
, Issue.1
, pp. 17
-
-
Pasqualini, C.1
Jorini, M.2
Carloni, I.3
Giangiacomi, M.4
Cetica, V.5
Aricò, M.6
-
141
-
-
42449112039
-
Variations of the perforin gene in patients with type 1 diabetes
-
doi:10.2337/db07-0947
-
Orilieri E, Cappellano G, Clementi R, Cometa A, Ferretti M, Cerutti E, et al. Variations of the perforin gene in patients with type 1 diabetes. Diabetes (2008) 57(4):1078-83. doi:10.2337/db07-0947.
-
(2008)
Diabetes
, vol.57
, Issue.4
, pp. 1078-1083
-
-
Orilieri, E.1
Cappellano, G.2
Clementi, R.3
Cometa, A.4
Ferretti, M.5
Cerutti, E.6
-
142
-
-
84897921273
-
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
-
doi:10.1007/s10545-010-9123-5
-
Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, et al. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis (2010) 33(Suppl 3):S233-40. doi:10.1007/s10545-010-9123-5.
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.SUPPL. 3
-
-
Weiss, K.H.1
Runz, H.2
Noe, B.3
Gotthardt, D.N.4
Merle, U.5
Ferenci, P.6
-
143
-
-
70350555305
-
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever
-
doi:10.1002/art.24905
-
Ferretti M, Gattorno M, Chiocchetti A, Mesturini R, Orilieri E, Bensi T, et al. The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis Rheum (2009) 60(11):3476-84. doi:10.1002/art.24905.
-
(2009)
Arthritis Rheum
, vol.60
, Issue.11
, pp. 3476-3484
-
-
Ferretti, M.1
Gattorno, M.2
Chiocchetti, A.3
Mesturini, R.4
Orilieri, E.5
Bensi, T.6
-
144
-
-
84890887168
-
XIAP Q423P polymorphism and susceptibility to childhood hemophagocytic lymphohistiocytosis
-
doi:10.1002/pbc.24735
-
Ou DY, Luo JM, Yuan Y. XIAP Q423P polymorphism and susceptibility to childhood hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer (2014) 61(2):196-7. doi:10.1002/pbc.24735.
-
(2014)
Pediatr Blood Cancer
, vol.61
, Issue.2
, pp. 196-197
-
-
Ou, D.Y.1
Luo, J.M.2
Yuan, Y.3
-
145
-
-
20444389785
-
Molecular basis for positive and negative signaling by the natural killer cell receptor 2B4 (CD244)
-
doi:10.1182/blood-2004-09-3796
-
Eissmann P, Beauchamp L, Wooters J, Tilton JC, Long EO, Watzl C. Molecular basis for positive and negative signaling by the natural killer cell receptor 2B4 (CD244). Blood (2005) 105(12):4722-9. doi:10.1182/blood-2004-09-3796.
-
(2005)
Blood
, vol.105
, Issue.12
, pp. 4722-4729
-
-
Eissmann, P.1
Beauchamp, L.2
Wooters, J.3
Tilton, J.C.4
Long, E.O.5
Watzl, C.6
-
146
-
-
84862976954
-
The adaptor SAP controls NK cell activation by regulating the enzymes Vav-1 and SHIP-1 and by enhancing conjugates with target cells
-
doi:10.1016/j.immuni.2012.03.023
-
Dong Z, Davidson D, Pérez-Quintero LA, Kurosaki T, Swat W, Veillette A. The adaptor SAP controls NK cell activation by regulating the enzymes Vav-1 and SHIP-1 and by enhancing conjugates with target cells. Immunity (2012) 36(6):974-85. doi:10.1016/j.immuni.2012.03.023.
-
(2012)
Immunity
, vol.36
, Issue.6
, pp. 974-985
-
-
Dong, Z.1
Davidson, D.2
Pérez-Quintero, L.A.3
Kurosaki, T.4
Swat, W.5
Veillette, A.6
-
147
-
-
0032190081
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
-
doi:10.1038/26683
-
Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature (1998) 395:462-9. doi:10.1038/26683.
-
(1998)
Nature
, vol.395
, pp. 462-469
-
-
Sayos, J.1
Wu, C.2
Morra, M.3
Wang, N.4
Zhang, X.5
Allen, D.6
-
148
-
-
35948985125
-
Natural killer T cells and X-linked lymphoproliferative syndrome
-
doi:10.1097/ACI.0b013e3282f1bad6
-
Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol (2007) 7(6):510-4. doi:10.1097/ACI.0b013e3282f1bad6.
-
(2007)
Curr Opin Allergy Clin Immunol
, vol.7
, Issue.6
, pp. 510-514
-
-
Latour, S.1
-
149
-
-
34247892632
-
Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules
-
doi:10.1146/annurev.immunol.25.022106.141651
-
Ma CS, Nichols KE, Tangye SG. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol (2007) 25:337-79. doi:10.1146/annurev.immunol.25.022106.141651.
-
(2007)
Annu Rev Immunol
, vol.25
, pp. 337-379
-
-
Ma, C.S.1
Nichols, K.E.2
Tangye, S.G.3
-
150
-
-
70349678683
-
Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency
-
doi:10.1172/JCI39518
-
Snow AL, Marsh RA, Krummey SM, Roehrs P, Young LR, Zhang K, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest (2009) 119(10):2976-89. doi:10.1172/JCI39518.
-
(2009)
J Clin Invest
, vol.119
, Issue.10
, pp. 2976-2989
-
-
Snow, A.L.1
Marsh, R.A.2
Krummey, S.M.3
Roehrs, P.4
Young, L.R.5
Zhang, K.6
-
151
-
-
0014007775
-
Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles
-
doi:10.1126/science.151.3706.81
-
Windhorst DB, Zelickson AS, Good RA. Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science (1966) 151:81-3. doi:10.1126/science.151.3706.81.
-
(1966)
Science
, vol.151
, pp. 81-83
-
-
Windhorst, D.B.1
Zelickson, A.S.2
Good, R.A.3
-
152
-
-
83255193923
-
The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion
-
doi:10.1111/j.1600-0854.2011.01300.x
-
Durchfort N, Verhoef S, Vaughn MB, Shrestha R, Adam D, Kaplan J, et al. The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion. Traffic (2012) 13(1):108-19. doi:10.1111/j.1600-0854.2011.01300.x.
-
(2012)
Traffic
, vol.13
, Issue.1
, pp. 108-119
-
-
Durchfort, N.1
Verhoef, S.2
Vaughn, M.B.3
Shrestha, R.4
Adam, D.5
Kaplan, J.6
-
153
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
-
doi:10.1146/annurev.genom.9.081307.164303
-
Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 9:359-86. doi:10.1146/annurev.genom.9.081307.164303.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 359-386
-
-
Huizing, M.1
Helip-Wooley, A.2
Westbroek, W.3
Gunay-Aygun, M.4
Gahl, W.A.5
-
154
-
-
50249184550
-
Formation and function of the lytic NK-cell immunological synapse
-
doi:10.1038/nri2381
-
Orange JS. Formation and function of the lytic NK-cell immunological synapse. Nat Rev Immunol (2008) 8(9):713-25. doi:10.1038/nri2381.
-
(2008)
Nat Rev Immunol
, vol.8
, Issue.9
, pp. 713-725
-
-
Orange, J.S.1
-
155
-
-
27644555189
-
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
-
doi:10.1091/mbc.E05-07-0626
-
Theos AC, Tenza D, Martina JA, Hurbain I, Peden AA, Sviderskaya EV, et al. Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol Biol Cell (2005) 16(11):5356-72. doi:10.1091/mbc.E05-07-0626.
-
(2005)
Mol Biol Cell
, vol.16
, Issue.11
, pp. 5356-5372
-
-
Theos, A.C.1
Tenza, D.2
Martina, J.A.3
Hurbain, I.4
Peden, A.A.5
Sviderskaya, E.V.6
-
156
-
-
0242539818
-
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse
-
doi:10.1038/ni1000
-
Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol (2003) 4:1111-20. doi:10.1038/ni1000.
-
(2003)
Nat Immunol
, vol.4
, pp. 1111-1120
-
-
Clark, R.H.1
Stinchcombe, J.C.2
Day, A.3
Blott, E.4
Booth, S.5
Bossi, G.6
-
157
-
-
76549129327
-
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
-
doi:10.3324/haematol.2009.012286
-
Wenham M, Grieve S, Cummins M, Jones ML, Booth S, Kilner R, et al. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica (2010) 95:333-7. doi:10.3324/haematol.2009.012286.
-
(2010)
Haematologica
, vol.95
, pp. 333-337
-
-
Wenham, M.1
Grieve, S.2
Cummins, M.3
Jones, M.L.4
Booth, S.5
Kilner, R.6
-
158
-
-
3042793578
-
Linking albinism and immunity: the secrets of secretory lysosomes
-
doi:10.1126/science.1095291
-
Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science (2004) 305:55-9. doi:10.1126/science.1095291.
-
(2004)
Science
, vol.305
, pp. 55-59
-
-
Stinchcombe, J.1
Bossi, G.2
Griffiths, G.M.3
-
159
-
-
1642275392
-
Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets
-
doi:10.1074/jbc.M309426200
-
Shirakawa R, Higashi T, Tabuchi A, Yoshioka A, Nishioka H, Fukuda M, et al. Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets. J Biol Chem (2004) 279:10730-7. doi:10.1074/jbc.M309426200.
-
(2004)
J Biol Chem
, vol.279
, pp. 10730-10737
-
-
Shirakawa, R.1
Higashi, T.2
Tabuchi, A.3
Yoshioka, A.4
Nishioka, H.5
Fukuda, M.6
-
160
-
-
19944430653
-
Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells
-
doi:10.1091/mbc.E04-10-0923
-
Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, et al. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell (2005) 16(2):731-41. doi:10.1091/mbc.E04-10-0923.
-
(2005)
Mol Biol Cell
, vol.16
, Issue.2
, pp. 731-741
-
-
Neeft, M.1
Wieffer, M.2
de Jong, A.S.3
Negroiu, G.4
Metz, C.H.5
van Loon, A.6
-
161
-
-
80051639052
-
The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane
-
doi:10.1182/blood-2011-02-339523
-
Elstak ED, Neeft M, Nehme NT, Voortman J, Cheung M, Goodarzifard M, et al. The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane. Blood (2011) 118(6):1570-8. doi:10.1182/blood-2011-02-339523.
-
(2011)
Blood
, vol.118
, Issue.6
, pp. 1570-1578
-
-
Elstak, E.D.1
Neeft, M.2
Nehme, N.T.3
Voortman, J.4
Cheung, M.5
Goodarzifard, M.6
-
162
-
-
34247880547
-
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4
-
doi:10.1038/ni1431
-
Ménager MM, Ménasché G, Romao M, Knapnougel P, Ho CH, Garfa M, et al. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007) 8:257-67. doi:10.1038/ni1431.
-
(2007)
Nat Immunol
, vol.8
, pp. 257-267
-
-
Ménager, M.M.1
Ménasché, G.2
Romao, M.3
Knapnougel, P.4
Ho, C.H.5
Garfa, M.6
-
163
-
-
0037088641
-
The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain
-
doi:10.1074/jbc.M112414200
-
Kuroda TS, Fukuda M, Ariga H, Mikoshiba K. The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. J Biol Chem (2002) 277:9212-8. doi:10.1074/jbc.M112414200.
-
(2002)
J Biol Chem
, vol.277
, pp. 9212-9218
-
-
Kuroda, T.S.1
Fukuda, M.2
Ariga, H.3
Mikoshiba, K.4
-
164
-
-
0037067673
-
A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport
-
doi:10.1074/jbc.M202574200
-
Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC. A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J Biol Chem (2002) 277:25423-30. doi:10.1074/jbc.M202574200.
-
(2002)
J Biol Chem
, vol.277
, pp. 25423-25430
-
-
Strom, M.1
Hume, A.N.2
Tarafder, A.K.3
Barkagianni, E.4
Seabra, M.C.5
-
165
-
-
0037023745
-
Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport
-
doi:10.1074/jbc.C200005200
-
Fukuda M, Kuroda TS, Mikoshiba K. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J Biol Chem (2002) 277(14):12432-6. doi:10.1074/jbc.C200005200.
-
(2002)
J Biol Chem
, vol.277
, Issue.14
, pp. 12432-12436
-
-
Fukuda, M.1
Kuroda, T.S.2
Mikoshiba, K.3
-
166
-
-
33748334340
-
Rab7 and Rab27a control two motor protein activities involved in melanosomal transport
-
doi:10.1111/j.1600-0749.2006.00329.x
-
Jordens I, Westbroek W, Marsman M, Rocha N, Mommaas M, Huizing M, et al. Rab7 and Rab27a control two motor protein activities involved in melanosomal transport. Pigment Cell Res (2006) 19:412-23. doi:10.1111/j.1600-0749.2006.00329.x.
-
(2006)
Pigment Cell Res
, vol.19
, pp. 412-423
-
-
Jordens, I.1
Westbroek, W.2
Marsman, M.3
Rocha, N.4
Mommaas, M.5
Huizing, M.6
-
167
-
-
40449092959
-
Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapse
-
doi:10.1111/j.1600-0854.2008.00714.x
-
Holt O, Kanno E, Bossi G, Booth S, Daniele T, Santoro A, et al. Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapse. Traffic (2008) 9(4):446-57. doi:10.1111/j.1600-0854.2008.00714.x.
-
(2008)
Traffic
, vol.9
, Issue.4
, pp. 446-457
-
-
Holt, O.1
Kanno, E.2
Bossi, G.3
Booth, S.4
Daniele, T.5
Santoro, A.6
-
168
-
-
58149388232
-
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion
-
doi:10.1182/blood-2008-02-141069
-
Ménasché G, Ménager MM, Lefebvre JM, Deutsch E, Athman R, Lambert N, et al. A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion. Blood (2008) 112:5052-62. doi:10.1182/blood-2008-02-141069.
-
(2008)
Blood
, vol.112
, pp. 5052-5062
-
-
Ménasché, G.1
Ménager, M.M.2
Lefebvre, J.M.3
Deutsch, E.4
Athman, R.5
Lambert, N.6
-
169
-
-
84860330652
-
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
-
doi:10.1182/blood-2011-09-382556
-
Kurowska M, Goudin N, Nehme NT, Court M, Garin J, Fischer A, et al. Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex. Blood (2012) 119:3879-89. doi:10.1182/blood-2011-09-382556.
-
(2012)
Blood
, vol.119
, pp. 3879-3889
-
-
Kurowska, M.1
Goudin, N.2
Nehme, N.T.3
Court, M.4
Garin, J.5
Fischer, A.6
-
170
-
-
0034235922
-
Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform
-
doi:10.1042/0264-6021:3490247
-
Koch H, Hofmann K, Brose N. Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform. Biochem J (2000) 253:247-53. doi:10.1042/0264-6021:3490247.
-
(2000)
Biochem J
, vol.253
, pp. 247-253
-
-
Koch, H.1
Hofmann, K.2
Brose, N.3
-
171
-
-
33645014145
-
A minimal domain responsible for Munc13 activity
-
doi:10.1038/nsmb1001
-
Basu J, Shen N, Dulubova I, Lu J, Guan R, Guryev O, et al. A minimal domain responsible for Munc13 activity. Nat Struct Mol Biol (2005) 12(11):1017-8. doi:10.1038/nsmb1001.
-
(2005)
Nat Struct Mol Biol
, vol.12
, Issue.11
, pp. 1017-1018
-
-
Basu, J.1
Shen, N.2
Dulubova, I.3
Lu, J.4
Guan, R.5
Guryev, O.6
-
172
-
-
79953154054
-
Munc13-4 restricts motility of Rab27a-expressing vesicles to facilitate lipopolysaccharide-induced priming of exocytosis in neutrophils
-
doi:10.1074/jbc.M110.184762
-
Johnson JL, Hong H, Monfregola J, Kiosses WB, Catz SD. Munc13-4 restricts motility of Rab27a-expressing vesicles to facilitate lipopolysaccharide-induced priming of exocytosis in neutrophils. J Biol Chem (2011) 286:5647-56. doi:10.1074/jbc.M110.184762.
-
(2011)
J Biol Chem
, vol.286
, pp. 5647-5656
-
-
Johnson, J.L.1
Hong, H.2
Monfregola, J.3
Kiosses, W.B.4
Catz, S.D.5
-
173
-
-
67651160303
-
Remote homology between Munc13 MUN domain and vesicle tethering complexes
-
doi:10.1016/j.jmb.2009.06.054
-
Pei J, Ma C, Rizo J, Grishin NV. Remote homology between Munc13 MUN domain and vesicle tethering complexes. J Mol Biol (2009) 391(3):509-17. doi:10.1016/j.jmb.2009.06.054.
-
(2009)
J Mol Biol
, vol.391
, Issue.3
, pp. 509-517
-
-
Pei, J.1
Ma, C.2
Rizo, J.3
Grishin, N.V.4
-
174
-
-
80054056038
-
The crystal structure of a Munc13 C-terminal module exhibits a remarkable similarity to vesicle tethering factors
-
doi:10.1016/j.str.2011.07.012
-
Li W, Ma C, Guan R, Xu Y, Tomchick DR, Rizo J. The crystal structure of a Munc13 C-terminal module exhibits a remarkable similarity to vesicle tethering factors. Structure (2011) 19:1443-55. doi:10.1016/j.str.2011.07.012.
-
(2011)
Structure
, vol.19
, pp. 1443-1455
-
-
Li, W.1
Ma, C.2
Guan, R.3
Xu, Y.4
Tomchick, D.R.5
Rizo, J.6
-
175
-
-
84861922902
-
Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion
-
doi:10.1083/jcb.201109132
-
Boswell KL, James DJ, Esquibel JM, Bruinsma S, Shirakawa R, Horiuchi H, et al. Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion. J Cell Biol (2012) 197(2):301-12. doi:10.1083/jcb.201109132.
-
(2012)
J Cell Biol
, vol.197
, Issue.2
, pp. 301-312
-
-
Boswell, K.L.1
James, D.J.2
Esquibel, J.M.3
Bruinsma, S.4
Shirakawa, R.5
Horiuchi, H.6
-
177
-
-
0000757670
-
Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain
-
doi:10.1006/bbrc.1998.8490
-
Tang BL, Low DY, Hong W. Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain. Biochem Biophys Res Commun (1998) 245(2):627-32. doi:10.1006/bbrc.1998.8490.
-
(1998)
Biochem Biophys Res Commun
, vol.245
, Issue.2
, pp. 627-632
-
-
Tang, B.L.1
Low, D.Y.2
Hong, W.3
-
178
-
-
0033197735
-
The length of the flexible SNAREpin juxtamembrane region is a critical determinant of SNARE-dependent fusion
-
doi:10.1016/S1097-2765(00)80343-3
-
McNew JA, Weber T, Engelman DM, Söllner TH, Rothman JE. The length of the flexible SNAREpin juxtamembrane region is a critical determinant of SNARE-dependent fusion. Mol Cell (1999) 4:415-21. doi:10.1016/S1097-2765(00)80343-3.
-
(1999)
Mol Cell
, vol.4
, pp. 415-421
-
-
McNew, J.A.1
Weber, T.2
Engelman, D.M.3
Söllner, T.H.4
Rothman, J.E.5
-
179
-
-
0034675978
-
Geranylgeranylated SNAREs are dominant inhibitors of membrane fusion
-
doi:10.1083/jcb.151.2.453
-
Grote E, Baba M, Ohsumi Y, Novick PJ. Geranylgeranylated SNAREs are dominant inhibitors of membrane fusion. J Cell Biol (2000) 151:453-66. doi:10.1083/jcb.151.2.453.
-
(2000)
J Cell Biol
, vol.151
, pp. 453-466
-
-
Grote, E.1
Baba, M.2
Ohsumi, Y.3
Novick, P.J.4
-
180
-
-
80054811004
-
A lipid-anchored SNARE supports membrane fusion
-
doi:10.1073/pnas.1113888108
-
Xu H, Zick M, Wickner WT, Jun Y. A lipid-anchored SNARE supports membrane fusion. Proc Natl Acad Sci U S A (2011) 108:17325-30. doi:10.1073/pnas.1113888108.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 17325-17330
-
-
Xu, H.1
Zick, M.2
Wickner, W.T.3
Jun, Y.4
-
181
-
-
77955507742
-
The exocytosis of lytic granules is impaired in Vti1b- or Vamp8-deficient CTL leading to a reduced cytotoxic activity following antigen-specific activation
-
doi:10.4049/jimmunol.1000770
-
Dressel R, Elsner L, Novota P, Kanwar N, Fischer von Mollard G. The exocytosis of lytic granules is impaired in Vti1b- or Vamp8-deficient CTL leading to a reduced cytotoxic activity following antigen-specific activation. J Immunol (2010) 185:1005-14. doi:10.4049/jimmunol.1000770.
-
(2010)
J Immunol
, vol.185
, pp. 1005-1014
-
-
Dressel, R.1
Elsner, L.2
Novota, P.3
Kanwar, N.4
Fischer von Mollard, G.5
-
182
-
-
73249140312
-
A role for endobrevin/VAMP8 in CTL lytic granule exocytosis
-
doi:10.1002/eji.200939378
-
Loo LS, Hwang LA, Ong YM, Tay HS, Wang CC, Hong W. A role for endobrevin/VAMP8 in CTL lytic granule exocytosis. Eur J Immunol (2009) 39(12):3520-8. doi:10.1002/eji.200939378.
-
(2009)
Eur J Immunol
, vol.39
, Issue.12
, pp. 3520-3528
-
-
Loo, L.S.1
Hwang, L.A.2
Ong, Y.M.3
Tay, H.S.4
Wang, C.C.5
Hong, W.6
-
183
-
-
84888110341
-
Syntaxin binding mechanism and disease-causing mutations in Munc18-2
-
doi:10.1073/pnas.1313474110
-
Hackmann Y, Graham SC, Ehl S, Höning S, Lehmberg K, Aricò M, et al. Syntaxin binding mechanism and disease-causing mutations in Munc18-2. Proc Natl Acad Sci U S A (2013) 110(47):E4482-91. doi:10.1073/pnas.1313474110.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.47
-
-
Hackmann, Y.1
Graham, S.C.2
Ehl, S.3
Höning, S.4
Lehmberg, K.5
Aricò, M.6
-
184
-
-
38949211822
-
Accessory proteins stabilize the acceptor complex for synaptobrevin, the 1:1 syntaxin/SNAP-25 complex
-
doi:10.1016/j.str.2007.12.010
-
Weninger K, Bowen ME, Choi UB, Chu S, Brunger AT. Accessory proteins stabilize the acceptor complex for synaptobrevin, the 1:1 syntaxin/SNAP-25 complex. Structure (2008) 16(2):308-20. doi:10.1016/j.str.2007.12.010.
-
(2008)
Structure
, vol.16
, Issue.2
, pp. 308-320
-
-
Weninger, K.1
Bowen, M.E.2
Choi, U.B.3
Chu, S.4
Brunger, A.T.5
-
185
-
-
79551637409
-
Possible roles for Munc18-1 domain 3a and Syntaxin1 N-peptide and C-terminal anchor in SNARE complex formation
-
doi:10.1073/pnas.0914906108
-
Hu SH, Christie MP, Saez NJ, Latham CF, Jarrott R, Lua LH, et al. Possible roles for Munc18-1 domain 3a and Syntaxin1 N-peptide and C-terminal anchor in SNARE complex formation. Proc Natl Acad Sci U S A (2011) 108(3):1040-5. doi:10.1073/pnas.0914906108.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, Issue.3
, pp. 1040-1045
-
-
Hu, S.H.1
Christie, M.P.2
Saez, N.J.3
Latham, C.F.4
Jarrott, R.5
Lua, L.H.6
-
186
-
-
58149361168
-
Munc18a scaffolds SNARE assembly to promote membrane fusion
-
doi:10.1091/mbc.E08-05-0538
-
Rodkey T, Liu S, Barry M. Munc18a scaffolds SNARE assembly to promote membrane fusion. Mol Biol Cell (2008) 19(12):5422-34. doi:10.1091/mbc.E08-05-0538.
-
(2008)
Mol Biol Cell
, vol.19
, Issue.12
, pp. 5422-5434
-
-
Rodkey, T.1
Liu, S.2
Barry, M.3
|