-
1
-
-
0033580206
-
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
-
Buckley, R. H., Schiff, S. E., Schiff, R. I., Markert, L., Williams, L. W., Roberts, J. L., Myers, L. A., and Ward, F. E., Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 340, 508-516, 1999.
-
(1999)
N. Engl. J. Med.
, vol.340
, pp. 508-516
-
-
Buckley, R.H.1
Schiff, S.E.2
Schiff, R.I.3
Markert, L.4
Williams, L.W.5
Roberts, J.L.6
Myers, L.A.7
Ward, F.E.8
-
2
-
-
0002777538
-
X-linked severe combined immunodeficiency
-
(H. D. Ochs, C. E. Smith, and J. M. Puck, Eds.), Oxford Univ. Press, New York
-
Puck, J. M., X-linked severe combined immunodeficiency. In "Primary Immunodeficiency Diseases: A Molecular and Genetic Approach" (H. D. Ochs, C. E. Smith, and J. M. Puck, Eds.), pp. 99-110, Oxford Univ. Press, New York, 1999.
-
(1999)
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach
, pp. 99-110
-
-
Puck, J.M.1
-
3
-
-
0027320217
-
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
-
Puck, J. M., Deschenes, S. M., Porter, J. C., Dutra, A. S., Brown, C. J., Willard, H. F., and Henthorn, P. S., The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2, 1099-1104, 1993.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1099-1104
-
-
Puck, J.M.1
Deschenes, S.M.2
Porter, J.C.3
Dutra, A.S.4
Brown, C.J.5
Willard, H.F.6
Henthorn, P.S.7
-
4
-
-
0027403374
-
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
-
Noguchi, M., Yi, H., Rosenblatt, H. M., Filipovich, A. H., Adelstein, S., Modi, W. S., McBride, O. W., and Leonard, W. J., Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73, 147-157, 1993.
-
(1993)
Cell
, vol.73
, pp. 147-157
-
-
Noguchi, M.1
Yi, H.2
Rosenblatt, H.M.3
Filipovich, A.H.4
Adelstein, S.5
Modi, W.S.6
McBride, O.W.7
Leonard, W.J.8
-
5
-
-
0028171065
-
Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: Implications for XSCID and XCID
-
Russell, S. M., Johnston, J. A., Noguchi, M., Kawamura, M., Bacon, C. M., Friedmann, M., Berg, M., McVicar, D. W., Witthuhn, B. A., Silvennoinen, O., et al., Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: Implications for XSCID and XCID. Science 266, 1042-1045, 1994.
-
(1994)
Science
, vol.266
, pp. 1042-1045
-
-
Russell, S.M.1
Johnston, J.A.2
Noguchi, M.3
Kawamura, M.4
Bacon, C.M.5
Friedmann, M.6
Berg, M.7
McVicar, D.W.8
Witthuhn, B.A.9
Silvennoinen, O.10
-
6
-
-
0029102233
-
Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis
-
Clark, P. A., Lester, T., Genet, S., Jones, A. M., Hendriks, R., Levinsky, R. J., and Kinnon, C., Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. Hum. Genet. 96, 427-432, 1995.
-
(1995)
Hum. Genet.
, vol.96
, pp. 427-432
-
-
Clark, P.A.1
Lester, T.2
Genet, S.3
Jones, A.M.4
Hendriks, R.5
Levinsky, R.J.6
Kinnon, C.7
-
7
-
-
0028009181
-
Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding
-
DiSanto, J. P., Dautry-Varsat, A., Certain, S., Fischer, A., and de Saint Basile, G., Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur. J. Immunol. 24, 475-479, 1994.
-
(1994)
Eur. J. Immunol.
, vol.24
, pp. 475-479
-
-
DiSanto, J.P.1
Dautry-Varsat, A.2
Certain, S.3
Fischer, A.4
De Saint Basile, G.5
-
8
-
-
0028087777
-
Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
-
DiSanto, J. P., Rieux-Laucat, F., Dautry-Varsat, A., Fischer, A., and de Saint Basile, G., Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc. Natl. Acad. Sci. USA 91, 9466-9470, 1994.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 9466-9470
-
-
DiSanto, J.P.1
Rieux-Laucat, F.2
Dautry-Varsat, A.3
Fischer, A.4
De Saint Basile, G.5
-
9
-
-
15844426339
-
Gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function
-
Hacein-Bey, H., Cavazzana-Calvo, M., Le Deist, F., Dautry-Varsat, A., Hivroz, C., Riviere, I., Danos, O., Heard, J. M., Sugamura, K., Fischer, A., et al., gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood 87, 3108-3116, 1996.
-
(1996)
Blood
, vol.87
, pp. 3108-3116
-
-
Hacein-Bey, H.1
Cavazzana-Calvo, M.2
Le Deist, F.3
Dautry-Varsat, A.4
Hivroz, C.5
Riviere, I.6
Danos, O.7
Heard, J.M.8
Sugamura, K.9
Fischer, A.10
-
10
-
-
0032435741
-
Mutations in the gene for the common gamma chain (gamma c) in X-linked severe combined immunodeficiency
-
Fugmann, S. D., Muller, S., Friedrich, W., Bartram, C. R., and Schwarz, K., Mutations in the gene for the common gamma chain (gamma c) in X-linked severe combined immunodeficiency. Hum. Genet. 103, 730-731, 1998.
-
(1998)
Hum. Genet.
, vol.103
, pp. 730-731
-
-
Fugmann, S.D.1
Muller, S.2
Friedrich, W.3
Bartram, C.R.4
Schwarz, K.5
-
11
-
-
0028243660
-
Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency
-
Ishii, N., Asao, H., Kimura, Y., Takeshita, T., Nakamura, M., Tsuchiya, S., Konno, T., Maeda, M., Uchiyama, T., and Sugamura, K., Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. J. Immunol. 153, 1310-1317, 1994.
-
(1994)
J. Immunol.
, vol.153
, pp. 1310-1317
-
-
Ishii, N.1
Asao, H.2
Kimura, Y.3
Takeshita, T.4
Nakamura, M.5
Tsuchiya, S.6
Konno, T.7
Maeda, M.8
Uchiyama, T.9
Sugamura, K.10
-
12
-
-
0028818754
-
Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency
-
Minegishi, Y., Ishii, N., Maeda, H., Takagi, S., Tsuchida, M., Okawa, H., Sugamura, K., Yata, J., Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum. Genet. 96, 681-683, 1995.
-
(1995)
Hum. Genet.
, vol.96
, pp. 681-683
-
-
Minegishi, Y.1
Ishii, N.2
Maeda, H.3
Takagi, S.4
Tsuchida, M.5
Okawa, H.6
Sugamura, K.7
Yata, J.8
-
13
-
-
0029161486
-
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency
-
Pepper, A. E., Buckley, R. H., Small, T. N., and Puck, J. M., Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am. J. Hum. Genet. 57, 564-571, 1995.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 564-571
-
-
Pepper, A.E.1
Buckley, R.H.2
Small, T.N.3
Puck, J.M.4
-
14
-
-
0030899948
-
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
-
Puck, J. M., Pepper, A. E., Henthorn, P. S., Candotti, F., Isakov, J., Whitwam, T., Conley, M. E., Fischer, R. E., Rosenblatt, H. M., Small, T. N., et al., Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 89, 1968-1977, 1997.
-
(1997)
Blood
, vol.89
, pp. 1968-1977
-
-
Puck, J.M.1
Pepper, A.E.2
Henthorn, P.S.3
Candotti, F.4
Isakov, J.5
Whitwam, T.6
Conley, M.E.7
Fischer, R.E.8
Rosenblatt, H.M.9
Small, T.N.10
-
15
-
-
0032816787
-
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots
-
Ting, S. S., Leigh, D., Lindeman, R., and Ziegler, J. B., Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. Br. J. Haematol. 106, 190-194, 1999.
-
(1999)
Br. J. Haematol.
, vol.106
, pp. 190-194
-
-
Ting, S.S.1
Leigh, D.2
Lindeman, R.3
Ziegler, J.B.4
-
16
-
-
7144261736
-
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1)
-
Wengler, G. S., Giliani, S., Fiorini, M., Mella, P., Mantuano, E., Zanola, A., Pollonini, G., Eibl, M. M., Ugazio, A. G., Notarangelo, L. D., et al., Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Br. J. Haematol. 101, 586-591, 1998.
-
(1998)
Br. J. Haematol.
, vol.101
, pp. 586-591
-
-
Wengler, G.S.1
Giliani, S.2
Fiorini, M.3
Mella, P.4
Mantuano, E.5
Zanola, A.6
Pollonini, G.7
Eibl, M.M.8
Ugazio, A.G.9
Notarangelo, L.D.10
-
17
-
-
0029161884
-
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency
-
Tassara, C., Pepper, A. E., Puck, J. M., Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum. Mol. Genet. 4, 1693-1695, 1995.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1693-1695
-
-
Tassara, C.1
Pepper, A.E.2
Puck, J.M.3
-
18
-
-
0029086125
-
Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently
-
Kumaki, S., Ochs, H. D., Timour, M., Schooley, K., Ahdieh, M., Hill, H., Sugamura, K., Anderson, D., Zhu, Q., Cosman, D., et al., Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently. Blood 86, 1428-1436, 1995.
-
(1995)
Blood
, vol.86
, pp. 1428-1436
-
-
Kumaki, S.1
Ochs, H.D.2
Timour, M.3
Schooley, K.4
Ahdieh, M.5
Hill, H.6
Sugamura, K.7
Anderson, D.8
Zhu, Q.9
Cosman, D.10
-
19
-
-
0032971960
-
A G to a transition at the last nucleotide of exon 6 of the gamma c gene (868G → A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency
-
published erratum appears in Hum. Genet. 104(2), 196, 1999
-
Kanai, N., Yanai, F., Hirose, S., Nibu, K., Izuhara, K., Tani, T., Kubota, T., and Mitsudome, A., A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G → A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency [published erratum appears in Hum. Genet. 104(2), 196, 1999]. Hum. Genet. 104, 36-42, 1999.
-
(1999)
Hum. Genet.
, vol.104
, pp. 36-42
-
-
Kanai, N.1
Yanai, F.2
Hirose, S.3
Nibu, K.4
Izuhara, K.5
Tani, T.6
Kubota, T.7
Mitsudome, A.8
-
20
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan, J. L., Vlekova, V., Le Deist, F., Blanche, S., Donadieu, J., De Saint-Basile, G., Durandy, A., Griscelli, C., and Fischer, A., Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 123, 564-572, 1993.
-
(1993)
J. Pediatr.
, vol.123
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le Deist, F.3
Blanche, S.4
Donadieu, J.5
De Saint-Basile, G.6
Durandy, A.7
Griscelli, C.8
Fischer, A.9
-
21
-
-
0026684134
-
Cloning of the gamma chain of the human IL-2 receptor
-
Takeshita, T., Asao, H., Ohtani, K., Ishii, N., Kumaki, S., Tanaka, N., Munakata, H., Nakamura, M., and Sugamura, K., Cloning of the gamma chain of the human IL-2 receptor. Science 257, 379-382, 1992.
-
(1992)
Science
, vol.257
, pp. 379-382
-
-
Takeshita, T.1
Asao, H.2
Ohtani, K.3
Ishii, N.4
Kumaki, S.5
Tanaka, N.6
Munakata, H.7
Nakamura, M.8
Sugamura, K.9
-
22
-
-
0028847795
-
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency
-
Puck, J. M., Pepper, A. E., Bedard, P. M., and Laframboise, R., Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J. Clin. Invest. 95, 895-899, 1995.
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 895-899
-
-
Puck, J.M.1
Pepper, A.E.2
Bedard, P.M.3
Laframboise, R.4
-
23
-
-
0028177030
-
Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing
-
Markiewicz, S., Subtil, A., Dautry-Varsat, A., Fischer, A., and de Saint Basile, G., Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21, 291-293, 1994.
-
(1994)
Genomics
, vol.21
, pp. 291-293
-
-
Markiewicz, S.1
Subtil, A.2
Dautry-Varsat, A.3
Fischer, A.4
De Saint Basile, G.5
-
24
-
-
0030028353
-
Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients
-
Izuhara, K., Heike, T., Otsuka, T., Yamaoka, K., Mayumi, M., Imamura, T., Niho, Y., and Harada, N., Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. J. Biol. Chem. 271, 619-622, 1996.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 619-622
-
-
Izuhara, K.1
Heike, T.2
Otsuka, T.3
Yamaoka, K.4
Mayumi, M.5
Imamura, T.6
Niho, Y.7
Harada, N.8
-
25
-
-
0027993022
-
Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits
-
Miyazaki, T., Kawahara, A., Fujii, H., Nakagawa, Y., Minami, Y., Liu, Z. J., Oishi, I., Silvennoinen, O., Witthuhn, B. A., Ihle, J. N., et al., Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science 266, 1045-1047, 1994.
-
(1994)
Science
, vol.266
, pp. 1045-1047
-
-
Miyazaki, T.1
Kawahara, A.2
Fujii, H.3
Nakagawa, Y.4
Minami, Y.5
Liu, Z.J.6
Oishi, I.7
Silvennoinen, O.8
Witthuhn, B.A.9
Ihle, J.N.10
-
26
-
-
0030967208
-
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization
-
Puck, J. M., Middleton, L., and Pepper, A. E., Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization. Hum. Genet. 99, 628-633, 1997.
-
(1997)
Hum. Genet.
, vol.99
, pp. 628-633
-
-
Puck, J.M.1
Middleton, L.2
Pepper, A.E.3
-
27
-
-
0030296468
-
IL2RGbase: A database of gamma c-chain defects causing human X-SCID
-
Puck, J. M., IL2RGbase: A database of gamma c-chain defects causing human X-SCID. Immunol. Today 17, 507-511, 1996.
-
(1996)
Immunol. Today
, vol.17
, pp. 507-511
-
-
Puck, J.M.1
-
28
-
-
0028985611
-
Primary immunodeficiency diseases
-
WHO Scientific Group on Immunodeficiency, Primary immunodeficiency diseases. Clin. Exp. Immunol. 99, 1, 1995.
-
(1995)
Clin. Exp. Immunol.
, vol.99
, pp. 1
-
-
-
29
-
-
0003681398
-
-
Bios Scientific, Oxford
-
Cooper, D., and Krawczak, M., "Human Gene Mutation," pp. 109-257, Bios Scientific, Oxford, 1993.
-
(1993)
Human Gene Mutation
, pp. 109-257
-
-
Cooper, D.1
Krawczak, M.2
-
30
-
-
0019996140
-
Model for the participation of quasi-palindromic DNA sequences in frameshift mutation
-
Ripley, L. S., Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc. Natl. Acad. Sci. USA 79, 4128-4132, 1982.
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.79
, pp. 4128-4132
-
-
Ripley, L.S.1
-
31
-
-
0029330286
-
When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat, L. E., When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1, 453-465, 1995.
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
32
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer, P. A., and Dietz, H. C., Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8, 1893-1900, 1999.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
33
-
-
0022510143
-
Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins
-
Engelman, D. M., Steitz, T. A., and Goldman, A., Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins. Annu. Rev. Biophys. Biophys. Chem. 15, 321-353, 1986.
-
(1986)
Annu. Rev. Biophys. Biophys. Chem.
, vol.15
, pp. 321-353
-
-
Engelman, D.M.1
Steitz, T.A.2
Goldman, A.3
-
34
-
-
0025162844
-
Structural design and molecular evolution of a cytokine receptor superfamily
-
Bazan, J. F., Structural design and molecular evolution of a cytokine receptor superfamily. Proc. Natl. Acad. Sci. USA 87, 6934-6938, 1990.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 6934-6938
-
-
Bazan, J.F.1
-
35
-
-
0033574713
-
Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface
-
Hage, T., Sebald, W., and Reinemer, P., Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface. Cell 97, 271-281, 1999.
-
(1999)
Cell
, vol.97
, pp. 271-281
-
-
Hage, T.1
Sebald, W.2
Reinemer, P.3
-
36
-
-
0028847977
-
A model of the complex between interleukin-4 and its receptors
-
Gustchina, A., Zdanov, A., Schalk-Hihi, C., and Wlodawer, A., A model of the complex between interleukin-4 and its receptors. Proteins 21, 140-148, 1995.
-
(1995)
Proteins
, vol.21
, pp. 140-148
-
-
Gustchina, A.1
Zdanov, A.2
Schalk-Hihi, C.3
Wlodawer, A.4
-
37
-
-
0018110116
-
Prediction of the secondary structure of proteins from their amino acid sequence
-
Chou, P. Y., and Fasman, G. D., Prediction of the secondary structure of proteins from their amino acid sequence. Adv. Enzymol. Relat. Areas Mol. Biol. 47, 45-148, 1978.
-
(1978)
Adv. Enzymol. Relat. Areas Mol. Biol.
, vol.47
, pp. 45-148
-
-
Chou, P.Y.1
Fasman, G.D.2
-
38
-
-
0003128793
-
Prediction of protein structural classes from amino acid composition
-
(G. D. Fasman, Ed.), Plenum Press, New York
-
Chou, P., Prediction of protein structural classes from amino acid composition. In "Prediction of Protein Structure and the Principles of Protein Conformation" (G. D. Fasman, Ed.), pp. 549-586, Plenum Press, New York, 1989.
-
(1989)
Prediction of Protein Structure and the Principles of Protein Conformation
, pp. 549-586
-
-
Chou, P.1
-
39
-
-
0028921573
-
Jaks and Stats in signaling by the cytokine receptor superfamily
-
Ihle, J. N., and Kerr, I. M., Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet. 11, 69-74, 1995.
-
(1995)
Trends Genet.
, vol.11
, pp. 69-74
-
-
Ihle, J.N.1
Kerr, I.M.2
|