-
1
-
-
0020038580
-
An X-linked syndrome of diarrhea, polyendocrinopathy and fatal infection in infancy
-
Powell B.R., Buist N.M.R., Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy and fatal infection in infancy. J. Pediatr. 1982, 100:731-737.
-
(1982)
J. Pediatr.
, vol.100
, pp. 731-737
-
-
Powell, B.R.1
Buist, N.M.R.2
Stenzel, P.3
-
2
-
-
34948875308
-
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells
-
Torgerson T.R., Ochs H.D. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J. Allergy Clin. Immunol. 2007, 120:744-750.
-
(2007)
J. Allergy Clin. Immunol.
, vol.120
, pp. 744-750
-
-
Torgerson, T.R.1
Ochs, H.D.2
-
3
-
-
0038434099
-
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
-
Gambineri E., Torgerson T.R., Ochs H.D. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr. Opin. Rheumatol. 2003, 15:430-435.
-
(2003)
Curr. Opin. Rheumatol.
, vol.15
, pp. 430-435
-
-
Gambineri, E.1
Torgerson, T.R.2
Ochs, H.D.3
-
4
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin R.S., Ramsdell F., Peake J., Faravelli F., Casanova J.-L., Buist N., et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 2001, 27:18-20.
-
(2001)
Nat. Genet.
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
Faravelli, F.4
Casanova, J.-L.5
Buist, N.6
-
5
-
-
0035167967
-
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
-
Bennett C.L., Christie J., Ramsdell F., Brunkow M.E., Ferguson P.J., Whitesell L., et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 2001, 27:20-21.
-
(2001)
Nat. Genet.
, vol.27
, pp. 20-21
-
-
Bennett, C.L.1
Christie, J.2
Ramsdell, F.3
Brunkow, M.E.4
Ferguson, P.J.5
Whitesell, L.6
-
6
-
-
0034526617
-
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
-
Chatila T.A., Blaeser F., Ho N., Lederman H.M., Voulgaropoulos C., Helms C., Bowcock A.M. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J. Clin. Invest. 2000, 106:R75-R81.
-
(2000)
J. Clin. Invest.
, vol.106
-
-
Chatila, T.A.1
Blaeser, F.2
Ho, N.3
Lederman, H.M.4
Voulgaropoulos, C.5
Helms, C.6
Bowcock, A.M.7
-
7
-
-
0347785480
-
Control of regulatory T cell development by the transcription factor Foxp3
-
Hori S., Nomura T., Sakaguchi S. Control of regulatory T cell development by the transcription factor Foxp3. Science 2003, 299:1057-1061.
-
(2003)
Science
, vol.299
, pp. 1057-1061
-
-
Hori, S.1
Nomura, T.2
Sakaguchi, S.3
-
10
-
-
0027467983
-
A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy
-
Satake N., Nakanishi M., Okano M., Tomizawa K., Ishizaka A., Kojima K., et al. A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur. J. Pediatr. 1993, 152:313-315.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 313-315
-
-
Satake, N.1
Nakanishi, M.2
Okano, M.3
Tomizawa, K.4
Ishizaka, A.5
Kojima, K.6
-
11
-
-
0029055709
-
Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy
-
Kobayashi I., Nakanishi M., Okano M., Sakiyama Y., Matsumoto S. Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy. Eur. J. Pediatr. 1995, 154:594-595.
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 594-595
-
-
Kobayashi, I.1
Nakanishi, M.2
Okano, M.3
Sakiyama, Y.4
Matsumoto, S.5
-
12
-
-
0029933085
-
Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506)
-
Bousvaros A., Leichtner A.M., Book L., Shigeoka A., Bilodeau J., Semeao E., et al. Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506). Gastroenterology 1996, 111:237-243.
-
(1996)
Gastroenterology
, vol.111
, pp. 237-243
-
-
Bousvaros, A.1
Leichtner, A.M.2
Book, L.3
Shigeoka, A.4
Bilodeau, J.5
Semeao, E.6
-
13
-
-
0035821985
-
Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogenic bone marrow transplantation
-
Baud O., Goulet O., Canioni D., Le Deist F., Radford I., Rieu D., et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogenic bone marrow transplantation. N. Engl. J. Med. 2001, 344:1758-1762.
-
(2001)
N. Engl. J. Med.
, vol.344
, pp. 1758-1762
-
-
Baud, O.1
Goulet, O.2
Canioni, D.3
Le Deist, F.4
Radford, I.5
Rieu, D.6
-
14
-
-
0035960124
-
A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
-
Kobayashi I., Kawamura N., Okano M. A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. N. Engl. J. Med. 2001, 345:999-1000.
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 999-1000
-
-
Kobayashi, I.1
Kawamura, N.2
Okano, M.3
-
15
-
-
19044382961
-
A new case of IPEX receiving bone marrow transplantation
-
Mazzolari E., Forino C., Fontana M., D'Ippolito C., Lanfranchi A., Gambineri E., et al. A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant 2005, 35:1033-1034.
-
(2005)
Bone Marrow Transplant
, vol.35
, pp. 1033-1034
-
-
Mazzolari, E.1
Forino, C.2
Fontana, M.3
D'Ippolito, C.4
Lanfranchi, A.5
Gambineri, E.6
-
16
-
-
33845983223
-
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
-
Rao A., Kamani N., Filipovich A., Lee S.M., Davies S.M., Dalal J., et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 2007, 109:383-385.
-
(2007)
Blood
, vol.109
, pp. 383-385
-
-
Rao, A.1
Kamani, N.2
Filipovich, A.3
Lee, S.M.4
Davies, S.M.5
Dalal, J.6
-
17
-
-
33845540426
-
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome
-
Lucas K.G., Ungar D., Comito M., Bayerl M., Groh B. Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. Bone Marrow Transplant 2007, 39:55-56.
-
(2007)
Bone Marrow Transplant
, vol.39
, pp. 55-56
-
-
Lucas, K.G.1
Ungar, D.2
Comito, M.3
Bayerl, M.4
Groh, B.5
-
18
-
-
42949167333
-
Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome
-
Zhan H., Sinclair J., Adams S., Cale C.M., Murch S., Perroni L., et al. Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Pediatrics 2008, 121:e998-e1002.
-
(2008)
Pediatrics
, vol.121
-
-
Zhan, H.1
Sinclair, J.2
Adams, S.3
Cale, C.M.4
Murch, S.5
Perroni, L.6
-
19
-
-
57249097253
-
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity
-
Gambineri E., Perroni L., Passerini L., Bianchi L., Doglioni C., Meschi F., et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J. Allergy Clin. Immunol. 2008, 122:1105-1112.
-
(2008)
J. Allergy Clin. Immunol.
, vol.122
, pp. 1105-1112
-
-
Gambineri, E.1
Perroni, L.2
Passerini, L.3
Bianchi, L.4
Doglioni, C.5
Meschi, F.6
-
20
-
-
0020260465
-
Flat small intestine mucosa and autoantibodies against the gut epithelium
-
Unsworth J., Hutchins P., Mitchell J., Phillips A., Hindocha P., Holborow J., Walker-Smith J. Flat small intestine mucosa and autoantibodies against the gut epithelium. J. Pediatr. Gastroenterol. Nutr. 1982, 1:503-513.
-
(1982)
J. Pediatr. Gastroenterol. Nutr.
, vol.1
, pp. 503-513
-
-
Unsworth, J.1
Hutchins, P.2
Mitchell, J.3
Phillips, A.4
Hindocha, P.5
Holborow, J.6
Walker-Smith, J.7
-
21
-
-
55749112854
-
Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome
-
Ruemmele F.M., Moes N., de Serre N.P., Rieux-Laucat F., Goulet O. Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Curr. Opin. Gastroenterol. 2008, 24:742-748.
-
(2008)
Curr. Opin. Gastroenterol.
, vol.24
, pp. 742-748
-
-
Ruemmele, F.M.1
Moes, N.2
de Serre, N.P.3
Rieux-Laucat, F.4
Goulet, O.5
-
22
-
-
0031948477
-
A 75kDa autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy
-
Kobayashi I., Imamura K., Yamada M., Okano M., Yara A., Ikema S., et al. A 75kDa autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin. Exp. Immunol. 1998, 111:527-531.
-
(1998)
Clin. Exp. Immunol.
, vol.111
, pp. 527-531
-
-
Kobayashi, I.1
Imamura, K.2
Yamada, M.3
Okano, M.4
Yara, A.5
Ikema, S.6
-
23
-
-
0032869933
-
Identification of an autoimmune enteropathy-related 75-kilodalton antigen
-
Kobayashi I., Imamura K., Kubota M., Ishikawa S., Yamada M., Tonoki H., et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology 1999, 117:823-830.
-
(1999)
Gastroenterology
, vol.117
, pp. 823-830
-
-
Kobayashi, I.1
Imamura, K.2
Kubota, M.3
Ishikawa, S.4
Yamada, M.5
Tonoki, H.6
-
24
-
-
77956163134
-
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy
-
Moes N., Rieux-Laucat F., Begue B., Verdier J., Neven B., Patey N., et al. Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. Gastroenterology 2010, 139:770-778.
-
(2010)
Gastroenterology
, vol.139
, pp. 770-778
-
-
Moes, N.1
Rieux-Laucat, F.2
Begue, B.3
Verdier, J.4
Neven, B.5
Patey, N.6
-
25
-
-
58149154812
-
Digestive histopathological presentation of IPEX syndrome
-
de Serre N.P., Canioni D., Ganousse S., Rieux-Laucat F., Goulet O., Ruemmele F., Brousse N. Digestive histopathological presentation of IPEX syndrome. Mod. Pathol. 2009, 22:95-102.
-
(2009)
Mod. Pathol.
, vol.22
, pp. 95-102
-
-
de Serre, N.P.1
Canioni, D.2
Ganousse, S.3
Rieux-Laucat, F.4
Goulet, O.5
Ruemmele, F.6
Brousse, N.7
-
26
-
-
18244378309
-
Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
-
Kobayashi I., Shiari R., Yamada M., Kawamura N., Okano M., Yara A., et al. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. J. Med. Genet. 2001, 38:874-876.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 874-876
-
-
Kobayashi, I.1
Shiari, R.2
Yamada, M.3
Kawamura, N.4
Okano, M.5
Yara, A.6
-
27
-
-
1642455945
-
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome without extraintestinal symptoms in a Japanese infant with a novel mutation of FOXP3 gene
-
Tanaka H., Suzuki K., Nakahata T., Kobayashi I., Kubota M., Ito E. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome without extraintestinal symptoms in a Japanese infant with a novel mutation of FOXP3 gene. Acta Pediatr. 2004, 93:142-143.
-
(2004)
Acta Pediatr.
, vol.93
, pp. 142-143
-
-
Tanaka, H.1
Suzuki, K.2
Nakahata, T.3
Kobayashi, I.4
Kubota, M.5
Ito, E.6
-
28
-
-
0001617063
-
Efficient isolation of gene using antibody probes
-
Young R.A., Davis R.W. Efficient isolation of gene using antibody probes. Proc. Natl. Acad. Sci. U.S.A. 1983, 80:1194-1198.
-
(1983)
Proc. Natl. Acad. Sci. U.S.A.
, vol.80
, pp. 1194-1198
-
-
Young, R.A.1
Davis, R.W.2
-
29
-
-
0023812318
-
Sequence of human villin; a large duplicated domain homologous with other actin-severing proteins and a unique small carboxy-terminal domain related to villin specificity
-
Arpin M., Pringault E., Finidori J., Garcia A., Jeltsch J.-M., Vandekerkhove J., Louvard D. Sequence of human villin; a large duplicated domain homologous with other actin-severing proteins and a unique small carboxy-terminal domain related to villin specificity. J. Cell Biol. 1988, 107:1759-1766.
-
(1988)
J. Cell Biol.
, vol.107
, pp. 1759-1766
-
-
Arpin, M.1
Pringault, E.2
Finidori, J.3
Garcia, A.4
Jeltsch, J.-M.5
Vandekerkhove, J.6
Louvard, D.7
-
30
-
-
80053131139
-
Regulation of actin polymerization by villin, a 95,000dalton cytoskeletal component of intestinal brush borders
-
Craig S.W., Powell L.D. Regulation of actin polymerization by villin, a 95,000dalton cytoskeletal component of intestinal brush borders. Cell 1980, 20:839-847.
-
(1980)
Cell
, vol.20
, pp. 839-847
-
-
Craig, S.W.1
Powell, L.D.2
-
31
-
-
0024317269
-
Villin induces microvilli growth and actin redistribution in transfected fibroblast
-
Friederich E., Huet C., Arpin M., Louvard D. Villin induces microvilli growth and actin redistribution in transfected fibroblast. Cell 1989, 59:461-475.
-
(1989)
Cell
, vol.59
, pp. 461-475
-
-
Friederich, E.1
Huet, C.2
Arpin, M.3
Louvard, D.4
-
32
-
-
44449128840
-
Regulation of cell structure and function by actin-binding proteins: villin's perspective
-
Khurana S., George S.P. Regulation of cell structure and function by actin-binding proteins: villin's perspective. FEBS Lett. 2008, 582:2128-2139.
-
(2008)
FEBS Lett.
, vol.582
, pp. 2128-2139
-
-
Khurana, S.1
George, S.P.2
-
33
-
-
0028890328
-
Autoantibodies specific for villin found in patients with colon cancer and other colitides
-
Rimm D.L., Holland T.E., Norrow J.S., Anderson J.M. Autoantibodies specific for villin found in patients with colon cancer and other colitides. Dig. Dis. Sci. 1995, 40:389-395.
-
(1995)
Dig. Dis. Sci.
, vol.40
, pp. 389-395
-
-
Rimm, D.L.1
Holland, T.E.2
Norrow, J.S.3
Anderson, J.M.4
-
34
-
-
56949093844
-
Detection of tumor-specific autoantibodies in sera of patients with lung cancer
-
Nagashio R., Sato Y., Jiang S.-X., Ryuge S., Kodera Y., Maeda T., Nakajima T. Detection of tumor-specific autoantibodies in sera of patients with lung cancer. Lung Cancer 1998, 62:364-373.
-
(1998)
Lung Cancer
, vol.62
, pp. 364-373
-
-
Nagashio, R.1
Sato, Y.2
Jiang, S.-X.3
Ryuge, S.4
Kodera, Y.5
Maeda, T.6
Nakajima, T.7
-
36
-
-
0036594594
-
Epitope spreading in systemic lupus erythematosus: identification of triggering peptide sequences
-
Monneaux F., Muller S. Epitope spreading in systemic lupus erythematosus: identification of triggering peptide sequences. Arthritis Rheum. 2002, 46:1430-1438.
-
(2002)
Arthritis Rheum.
, vol.46
, pp. 1430-1438
-
-
Monneaux, F.1
Muller, S.2
|