-
1
-
-
0029025441
-
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
-
Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, et al.: Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995, 81:935-946.
-
(1995)
Cell
, vol.81
, pp. 935-946
-
-
Fisher, G.H.1
Rosenberg, F.J.2
Straus, S.E.3
Dale, J.K.4
Middleton, L.A.5
Lin, A.Y.6
-
2
-
-
0029006893
-
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
-
Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, et al.: Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995, 268:1347-1349.
-
(1995)
Science
, vol.268
, pp. 1347-1349
-
-
Rieux-Laucat, F.1
Le Deist, F.2
Hivroz, C.3
Roberts, I.A.4
Debatin, K.M.5
Fischer, A.6
-
3
-
-
0029737324
-
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
-
Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD: Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest 1996, 98:1107-1113.
-
(1996)
J Clin Invest
, vol.98
, pp. 1107-1113
-
-
Wu, J.1
Wilson, J.2
He, J.3
Xiang, L.4
Schur, P.H.5
Mountz, J.D.6
-
4
-
-
0033538475
-
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II
-
Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, et al.: Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 1999, 98:47-58. This paper defines the genetic lesion in two patients with ALPS type II, and provides evidence that defect of an apoptotic protein is a general mechanism causing the pathology of ALPS. Unlike patients with ALPS type I, patients with ALPS type II have a defect in multiple apoptotic pathways and a specific apoptotic defect in dendritic cells. This paper provides evidence that activated T cells can induce dendritic cell death, and that the ligand TRAIL may mediate this cell death.
-
(1999)
Cell
, vol.98
, pp. 47-58
-
-
Wang, J.1
Zheng, L.2
Lobito, A.3
Chan, F.K.4
Dale, J.5
Sneller, M.6
-
5
-
-
0029802697
-
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity
-
Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB: Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 1996, 335:1643-1649.
-
(1996)
N Engl J Med
, vol.335
, pp. 1643-1649
-
-
Drappa, J.1
Vaishnaw, A.K.2
Sullivan, K.E.3
Chu, J.L.4
Elkon, K.B.5
-
6
-
-
0030952229
-
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis
-
Bettinardi A, Brugnoni D, Quiros-Roldan E, Malagoli A, La Grutta S, Correra A, et al.: Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 1997, 89:902-909.
-
(1997)
Blood
, vol.89
, pp. 902-909
-
-
Bettinardi, A.1
Brugnoni, D.2
Quiros-Roldan, E.3
Malagoli, A.4
La Grutta, S.5
Correra, A.6
-
7
-
-
0030614415
-
Clinicial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis
-
Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, et al.: Clinicial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997, 89:1341-1348.
-
(1997)
Blood
, vol.89
, pp. 1341-1348
-
-
Sneller, M.C.1
Wang, J.2
Dale, J.K.3
Strober, W.4
Middelton, L.A.5
Choi, Y.6
-
8
-
-
0030610755
-
Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis
-
Pensati L, Costanzo A, Ianni A, Accapezzato D, Iorio R, Natoli G, et al.: Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. Gastroenterology 1997, 113:1384-1389.
-
(1997)
Gastroenterology
, vol.113
, pp. 1384-1389
-
-
Pensati, L.1
Costanzo, A.2
Ianni, A.3
Accapezzato, D.4
Iorio, R.5
Natoli, G.6
-
9
-
-
6844240196
-
Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder
-
Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y, et al.: Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 1998, 10:195-202.
-
(1998)
Int Immunol
, vol.10
, pp. 195-202
-
-
Kasahara, Y.1
Wada, T.2
Niida, Y.3
Yachie, A.4
Seki, H.5
Ishida, Y.6
-
10
-
-
0031797465
-
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis
-
Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, et al.: The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 1998, 133:629-633. This paper describes clinical findings related to ALPS and highlights the variability in clinical expression in 11 Fas mutation-bearing members of a four generation kindred.
-
(1998)
J Pediatr
, vol.133
, pp. 629-633
-
-
Infante, A.J.1
Britton, H.A.2
DeNapoli, T.3
Middelton, L.A.4
Lenardo, M.J.5
Jackson, C.E.6
-
11
-
-
0031788470
-
Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation
-
Haas JP, Grunke M, Frank C, Kolowos W, Dirnecker D, Leipold G, et al.: Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation. Cell Death Differ 1998, 5:751-757.
-
(1998)
Cell Death Differ
, vol.5
, pp. 751-757
-
-
Haas, J.P.1
Grunke, M.2
Frank, C.3
Kolowos, W.4
Dirnecker, D.5
Leipold, G.6
-
12
-
-
0031817818
-
The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency
-
van der Werff ten Bosch JE, Demanet C, Balduck N, Bakkus MH, De Raeve H, Desprechins B, et al.: The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency. Br J Haematol 1998, 102:578-581.
-
(1998)
Br J Haematol
, vol.102
, pp. 578-581
-
-
Van Der Werff Ten Bosch, J.E.1
Demanet, C.2
Balduck, N.3
Bakkus, M.H.4
De Raeve, H.5
Desprechins, B.6
-
13
-
-
0031707361
-
Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation
-
Sleight BJ, Prasad VS, DeLaat C, Steele P, Ballard E, Arceci RJ, et al: Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant 1998, 22:375-380. This paper describes clinical treatment and bone marrow transplantation for one of the rare patients with ALPS homozygous for a Fas mutation.
-
(1998)
Bone Marrow Transplant
, vol.22
, pp. 375-380
-
-
Sleight, B.J.1
Prasad, V.S.2
DeLaat, C.3
Steele, P.4
Ballard, E.5
Arceci, R.J.6
-
14
-
-
0032931219
-
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations
-
Vaishnaw AK, Orlinick JR, Chu JL, Krammer PH, Chao MV, Elkon KB: The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J Clin Invest 1999, 103:355-363. This study of 11 kindreds with ALPS (eight newly reported here) and biochemical analysis of mutant Fas from these kindreds suggests that death domain mutant Fas fails to bind the apoptotic protein FADD, and thus is unable to transduce the cell death signal initiated by the binding of Fas L to Fas. Additionally, studies on extracellular truncated mutant Fas suggest haploinsufficiency of Fas as a contributing factor towards development of the ALPS phenotype.
-
(1999)
J Clin Invest
, vol.103
, pp. 355-363
-
-
Vaishnaw, A.K.1
Orlinick, J.R.2
Chu, J.L.3
Krammer, P.H.4
Chao, M.V.5
Elkon, K.B.6
-
15
-
-
0033361766
-
Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance
-
Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, et al.: Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 1999, 64:1002-1014. This study includes functional analyses of 17 mutant Fas proteins (eight newly reported), and of two newly reported Fas protein polymorphic variants. Evidence is provided that both intracellular Fas mutants and extracellular truncated Fas mutants dominantly interfere with apoptosis mediated by wild type Fas. Additionally, analysis of 60 relatives who bear Fas mutations, from 14 extended kindreds with ALPS suggests that penetrance of both features of ALPS and ALPS-related significant morbidity is significantly greater in those kindreds with intracellular Fas mutations.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1002-1014
-
-
Jackson, C.E.1
Fischer, R.E.2
Hsu, A.P.3
Anderson, S.M.4
Choi, Y.5
Wang, J.6
-
16
-
-
0032930197
-
Defective apoptosis caused by a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease
-
Peters AM, Kohfink B, Martin H, Griesinger F, Wormann B, Gahr M, et al.: Defective apoptosis caused by a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. Exp Hematol 1999, 27:868-874. This paper describes the clinical findings in one interesting family with ALPS, which includes 3 patients with a Fas death domain mutation. One of these individuals is a 5-year-old girl with T-cell lymphoma, and another a 30-year-old male with Hodgkin's disease.
-
(1999)
Exp Hematol
, vol.27
, pp. 868-874
-
-
Peters, A.M.1
Kohfink, B.2
Martin, H.3
Griesinger, F.4
Wormann, B.5
Gahr, M.6
-
17
-
-
13044277571
-
Lymphoproliferative syndrome with auto immunity: A possible genetic basis for dominant expression of the clinical manifestations
-
Rieux Laucat F, Blanchère S, Danielan S, de Villartay JP, Oleastro M, Solary E, et al.: Lymphoproliferative syndrome with auto immunity: a possible genetic basis for dominant expression of the clinical manifestations. Blood, 1999, 94:2575-2582. This paper describes clinical findings and heterozygous Fas mutations in 14 patients with ALPS. The patients were followed for up to ten years, during which time a general improvement of lymphoproliferative symptoms but persistance of immunological disorders occurred.
-
(1999)
Blood
, vol.94
, pp. 2575-2582
-
-
Rieux Laucat, F.1
Blanchère, S.2
Danielan, S.3
De Villartay, J.P.4
Oleastro, M.5
Solary, E.6
-
18
-
-
0026499653
-
Assignment of the human Fas antigen gene (FAS) to 10q24.1
-
Inazawa J, Itoh N, Abe T, Nagata S: Assignment of the human Fas antigen gene (FAS) to 10q24.1. Genomics 1992, 14:821-822.
-
(1992)
Genomics
, vol.14
, pp. 821-822
-
-
Inazawa, J.1
Itoh, N.2
Abe, T.3
Nagata, S.4
-
19
-
-
13044282468
-
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia
-
Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, et al.: Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci USA 1999, 96:4552-4557. This biochemical analysis of eight death domain mutant Fas proteins indicates that failure to bind the apoptotic protein FADD underlies the dominant negative action of these proteins. Additionally, NMR studies show that either local or global disruption of the death domain can produce this inability to bind FADD.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 4552-4557
-
-
Martin, D.A.1
Zheng, L.2
Siegel, R.M.3
Huang, B.4
Fisher, G.H.5
Wang, J.6
-
20
-
-
0014097538
-
Chronic lymphadenopathy simulating malignant lymphoma
-
Canale VC, Smith CH: Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 1967, 70:891-899.
-
(1967)
J Pediatr
, vol.70
, pp. 891-899
-
-
Canale, V.C.1
Smith, C.H.2
-
21
-
-
0026758658
-
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease
-
Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M, et al.: A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992, 90:334-341.
-
(1992)
J Clin Invest
, vol.90
, pp. 334-341
-
-
Sneller, M.C.1
Straus, S.E.2
Jaffe, E.S.3
Jaffe, J.S.4
Fleisher, T.A.5
Stetler-Stevenson, M.6
-
22
-
-
0022273898
-
Murine models of systemic lupus erythematosus
-
Theofilopoulos AN, Dixon FJ: Murine models of systemic lupus erythematosus. Adv Immunol 1985, 37:269-390.
-
(1985)
Adv Immunol
, vol.37
, pp. 269-390
-
-
Theofilopoulos, A.N.1
Dixon, F.J.2
-
23
-
-
0025875259
-
Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease
-
Cohen PL, Eisenberg RA: Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol 1991, 9:243-269.
-
(1991)
Annu Rev Immunol
, vol.9
, pp. 243-269
-
-
Cohen, P.L.1
Eisenberg, R.A.2
-
24
-
-
0026568919
-
Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis
-
Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S: Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature 1992, 356:314-317.
-
(1992)
Nature
, vol.356
, pp. 314-317
-
-
Watanabe-Fukunaga, R.1
Brannan, C.I.2
Copeland, N.G.3
Jenkins, N.A.4
Nagata, S.5
-
25
-
-
0028223847
-
Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand
-
Takahashi T, Tanaka M, Brannan CI, Jenkins NA, Copeland NG, Suda T, et al.: Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell 1994, 76:969-976.
-
(1994)
Cell
, vol.76
, pp. 969-976
-
-
Takahashi, T.1
Tanaka, M.2
Brannan, C.I.3
Jenkins, N.A.4
Copeland, N.G.5
Suda, T.6
-
26
-
-
0028983657
-
Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas
-
Brunner T, Mogil RJ, LaFace D, Yoo NJ, Mahboubi A, Echeverri F, et al.: Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas. Nature 1995, 373:441-444.
-
(1995)
Nature
, vol.373
, pp. 441-444
-
-
Brunner, T.1
Mogil, R.J.2
LaFace, D.3
Yoo, N.J.4
Mahboubi, A.5
Echeverri, F.6
-
27
-
-
0028795758
-
Autocrine T-cell suicide mediated by APO-1
-
Dhein J, Walczak H, Baumler C, Debatin KM, Krammer PH: Autocrine T-cell suicide mediated by APO-1. Nature 1995, 373:438-441.
-
(1995)
Nature
, vol.373
, pp. 438-441
-
-
Dhein, J.1
Walczak, H.2
Baumler, C.3
Debatin, K.M.4
Krammer, P.H.5
-
28
-
-
0028893078
-
Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation
-
Ju ST, Panka DJ, Cui H, Ettinger R, el-Khatib M, Sherr DH, et al.: Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation. Nature 1995, 373:444-448.
-
(1995)
Nature
, vol.373
, pp. 444-448
-
-
Ju, S.T.1
Panka, D.J.2
Cui, H.3
Ettinger, R.4
El-Khatib, M.5
Sherr, D.H.6
-
29
-
-
0032575714
-
Death receptors: Signaling and modulation
-
Ashkenazi A, Dixit VM: Death receptors: signaling and modulation. Science 1998, 281:1305-1308.
-
(1998)
Science
, vol.281
, pp. 1305-1308
-
-
Ashkenazi, A.1
Dixit, V.M.2
-
30
-
-
0031405585
-
TRAIL receptors 1 (DR4) and 2 (DR5) signal FADD-dependent apoptosis and activate NF-kappaB
-
Schneider P, Thome M, Burns K, Bodmer JL, Hofmann K, Kataoka T, et al.: TRAIL receptors 1 (DR4) and 2 (DR5) signal FADD-dependent apoptosis and activate NF-kappaB. Immunity 1997, 7:831-836.
-
(1997)
Immunity
, vol.7
, pp. 831-836
-
-
Schneider, P.1
Thome, M.2
Burns, K.3
Bodmer, J.L.4
Hofmann, K.5
Kataoka, T.6
-
31
-
-
0031406386
-
Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-kappaB pathway
-
Chaudhary PM, Eby M, Jasmin A, Bookwalter A, Murray J, Hood L: Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-kappaB pathway. Immunity 1997, 7:821-830.
-
(1997)
Immunity
, vol.7
, pp. 821-830
-
-
Chaudhary, P.M.1
Eby, M.2
Jasmin, A.3
Bookwalter, A.4
Murray, J.5
Hood, L.6
-
32
-
-
0345059209
-
Clincal features and management: An inherited disorder of lymphocyte apoptosis: The autoimmune lymphoproliferative syndrome
-
Sneller MC: Clincal features and management: an inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med 1999, 130:591-601. This portion of a published conference includes detailed clinical findings and general description of treatment in 26 patients with ALPS. The paper in its entirety provides a good general reference describing lymphocyte apoptosis, the genetic basis of ALPS, and the role of immunologic abnormalities in the development of autoimmunity in ALPS.
-
(1999)
Ann Intern Med
, vol.130
, pp. 591-601
-
-
Sneller, M.C.1
-
33
-
-
0030715354
-
Mutations in the Fas antigen in patients with multiple myeloma
-
Landowski TH, Qu N, Buyuksal I, Painter JS, Dalton WS: Mutations in the Fas antigen in patients with multiple myeloma. Blood 1997, 90:4266-4270.
-
(1997)
Blood
, vol.90
, pp. 4266-4270
-
-
Landowski, T.H.1
Qu, N.2
Buyuksal, I.3
Painter, J.S.4
Dalton, W.S.5
-
34
-
-
0032525198
-
CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia
-
Beltinger C, Kurz E, Bohler T, Schrappe M, Ludwig WD, Debatin KM: CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia. Blood 1998, 91:3943-3951.
-
(1998)
Blood
, vol.91
, pp. 3943-3951
-
-
Beltinger, C.1
Kurz, E.2
Bohler, T.3
Schrappe, M.4
Ludwig, W.D.5
Debatin, K.M.6
-
35
-
-
0000501561
-
Somatic Fas mutations in non-Hodgkin's lymphoma: Association with extranodal disease and autoimmunity
-
Grønbæk K, Straten PT, Ralfkiaer E, Ahrenkiel V, Andersen MK, Hansen NE, et al.: Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. Blood 1998, 92:3018-3024.
-
(1998)
Blood
, vol.92
, pp. 3018-3024
-
-
Grønbæk, K.1
Straten, P.T.2
Ralfkiaer, E.3
Ahrenkiel, V.4
Andersen, M.K.5
Hansen, N.E.6
-
36
-
-
0033526084
-
Fas gene mutation in the progression of adult T cell leukemia
-
Maeda T, Yamada Y, Moriuchi R, Sugahara K, Tsuruda K, Joh T, et al.: Fas gene mutation in the progression of adult T cell leukemia. J Exp Med 1999, 189:1063-1071.
-
(1999)
J Exp Med
, vol.189
, pp. 1063-1071
-
-
Maeda, T.1
Yamada, Y.2
Moriuchi, R.3
Sugahara, K.4
Tsuruda, K.5
Joh, T.6
-
37
-
-
0033600179
-
Alterations of Fas (Apo-1/CD95) gene in non-small cell lung cancer
-
Lee SH, Shin MS, Park WS, Kim SY, Kim HS, Han JY, et al.: Alterations of Fas (Apo-1/CD95) gene in non-small cell lung cancer. Oncogene 1999, 18:3754-3760.
-
(1999)
Oncogene
, vol.18
, pp. 3754-3760
-
-
Lee, S.H.1
Shin, M.S.2
Park, W.S.3
Kim, S.Y.4
Kim, H.S.5
Han, J.Y.6
-
38
-
-
0000293602
-
Alterations of Fas (Apo-1/CD95) gene in cutaneous malignant melanoma
-
Shin MS, Park WS, Kim SY, Kim HS, Kang SJ, Song KY, et al.: Alterations of Fas (Apo-1/CD95) gene in cutaneous malignant melanoma. Am J Pathol 1999, 154:1785-1791.
-
(1999)
Am J Pathol
, vol.154
, pp. 1785-1791
-
-
Shin, M.S.1
Park, W.S.2
Kim, S.Y.3
Kim, H.S.4
Kang, S.J.5
Song, K.Y.6
-
39
-
-
0001130663
-
Alterations of Fas (APO-1/CD95) gene in transitional cell carcinomas of urinary bladder
-
Lee SH, Shin MS, Park WS, Kim SY, Dong SM, Pi JH, et al.: Alterations of Fas (APO-1/CD95) gene in transitional cell carcinomas of urinary bladder. Cancer Res 1999, 59:3068-3072. This group found Fas mutations in 28% (12 of 43) of transitional cell carcinomas of the urinary bladder. Eight of the ten mutations that occurred in the death domain were identical, suggesting a mutational hot spot in Fas associated with bladder cancers.
-
(1999)
Cancer Res
, vol.59
, pp. 3068-3072
-
-
Lee, S.H.1
Shin, M.S.2
Park, W.S.3
Kim, S.Y.4
Dong, S.M.5
Pi, J.H.6
-
40
-
-
0031737954
-
Pathological findings in human autoimmune lymphoproliferative syndrome
-
Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, et al.: Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 1998, 153:1541-1550. This paper describes the histopathological and immunophenotypic findings in lymph nodes, peripheral blood, bone marrow, spleen, and liver from 10 patients with ALPS.
-
(1998)
Am J Pathol
, vol.153
, pp. 1541-1550
-
-
Lim, M.S.1
Straus, S.E.2
Dale, J.K.3
Fleisher, T.A.4
Stetler-Stevenson, M.5
Strober, W.6
-
41
-
-
0002047236
-
Inherited disorders with autoimmunity and defective lymphocyte regulation
-
Edited by Ochs HD, Smith CIE, Puck JM. New York, New York: Oxford University Press
-
Puck JM, Straus SE, Le Deist F, Rieux-Laucat F, Fischer A: Inherited disorders with autoimmunity and defective lymphocyte regulation. In Primary Immunodeficiency Diseases, a Molecular and Genetic Approach. Edited by Ochs HD, Smith CIE, Puck JM. New York, New York: Oxford University Press; 1999:339-352.
-
(1999)
Primary Immunodeficiency Diseases, a Molecular and Genetic Approach
, pp. 339-352
-
-
Puck, J.M.1
Straus, S.E.2
Le Deist, F.3
Rieux-Laucat, F.4
Fischer, A.5
-
42
-
-
0032967654
-
Autoimmune lymphoproliferative syndrome: A syndrome associated with inherited genetic defects that impair lymphocytic apoptosis-CT and US features
-
Avila NA, Dwyer AJ, Dale JK, Lopatin UA, Sneller MC, Jaffe ES, et al.: Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis-CT and US features. Radiology 1999, 212:257-263. This study of 18 individuals with ALPS presents computed tomographic and ultrasonograhphic findings from lymph nodes, liver, spleen, thymus, and thyroid. The authors suggest that the consistency of the clinical findings over time and the ultrasonographic pattern of the lymph nodes may assist in the diagnosis of ALPS.
-
(1999)
Radiology
, vol.212
, pp. 257-263
-
-
Avila, N.A.1
Dwyer, A.J.2
Dale, J.K.3
Lopatin, U.A.4
Sneller, M.C.5
Jaffe, E.S.6
-
43
-
-
0030741701
-
Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation
-
Benkerrou M, Le Deist F, de Villartay JP, Caillat-Zucman S, Rieux-Laucat F, Jabado N, et al.: Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol 1997, 27:2043-2047.
-
(1997)
Eur J Immunol
, vol.27
, pp. 2043-2047
-
-
Benkerrou, M.1
Le Deist, F.2
De Villartay, J.P.3
Caillat-Zucman, S.4
Rieux-Laucat, F.5
Jabado, N.6
-
44
-
-
0030465072
-
NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain
-
Huang B, Eberstadt M, Olejniczak ET, Meadows RP, Fesik SW: NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain. Nature 1996, 384:638-641.
-
(1996)
Nature
, vol.384
, pp. 638-641
-
-
Huang, B.1
Eberstadt, M.2
Olejniczak, E.T.3
Meadows, R.P.4
Fesik, S.W.5
|