-
1
-
-
12344331854
-
Combined immune deficiencies due to purine enzyme defects
-
Edited by Stiehm ER, Ochs HD, Winkelstein JA: WB Saunders: in press
-
Hershfield MS: Combined immune deficiencies due to purine enzyme defects. In Immunologic Disorders in Infants and Children, edn 5. Edited by Stiehm ER, Ochs HD, Winkelstein JA: WB Saunders; 2003: in press.
-
(2003)
Immunologic Disorders in Infants and Children, Edn 5
-
-
Hershfield, M.S.1
-
2
-
-
0000124054
-
Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency
-
Edited by Scriver CR, Beaudet AL, Sly WS, Valle D: McGraw-Hill
-
Hershfield MS, Mitchell BS: Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In The Metabolic and Molecular Bases of Inherited Disease, edn 8. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D: McGraw-Hill; 2001:2585-2625.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, Edn 8
, pp. 2585-2625
-
-
Hershfield, M.S.1
Mitchell, B.S.2
-
3
-
-
0000930996
-
Immunodeficiency disease due to deficiency of adenosine deaminase
-
Edited by Ochs HD, Smith CIE, Puck JM: Oxford
-
Hirschhorn R: Immunodeficiency disease due to deficiency of adenosine deaminase. In Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. Edited by Ochs HD, Smith CIE, Puck JM: Oxford; 1999:121-139.
-
(1999)
Primary Immunodeficiency Diseases. A Molecular and Genetic Approach
, pp. 121-139
-
-
Hirschhorn, R.1
-
4
-
-
0022887765
-
Complete sequence and structure of the gene for human adenosine deaminase
-
Wiginton D.A., Kaplan D.J., States J.C., Akeson A.L., Perme C.M., Bilyk I.J., Vaughn A.J., Lattier D.L., Hutton J.J. Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry. 25:1986;8234-8244.
-
(1986)
Biochemistry
, vol.25
, pp. 8234-8244
-
-
Wiginton, D.A.1
Kaplan, D.J.2
States, J.C.3
Akeson, A.L.4
Perme, C.M.5
Bilyk, I.J.6
Vaughn, A.J.7
Lattier, D.L.8
Hutton, J.J.9
-
5
-
-
0026434561
-
Atomic structure of adenosine deaminase complexed with a transition-state analog: Understanding catalysis and immunodeficiency mutations
-
Wilson D.K., Rudolph F.B., Quiocho F.A. Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations. Science. 252:1991;1278-1284.
-
(1991)
Science
, vol.252
, pp. 1278-1284
-
-
Wilson, D.K.1
Rudolph, F.B.2
Quiocho, F.A.3
-
6
-
-
0025093094
-
Characterization of the adenosine deaminase-adenosine deaminase complexing protein binding reaction
-
Schrader W.P., West C.A., Miczek A.D., Norton E.K. Characterization of the adenosine deaminase-adenosine deaminase complexing protein binding reaction. J. Biol. Chem. 265:1990;19312-19318.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 19312-19318
-
-
Schrader, W.P.1
West, C.A.2
Miczek, A.D.3
Norton, E.K.4
-
7
-
-
0027201145
-
Direct association of adenosine deaminase with a T cell activation antigen, CD26
-
Kameoka J., Tanaka T., Nojima Y., Schlossman S., Morimoto C. Direct association of adenosine deaminase with a T cell activation antigen, CD26. Science. 261:1993;466-469.
-
(1993)
Science
, vol.261
, pp. 466-469
-
-
Kameoka, J.1
Tanaka, T.2
Nojima, Y.3
Schlossman, S.4
Morimoto, C.5
-
8
-
-
0027401263
-
A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase
-
Morrison M.E., Vijayasaradhi S., Engelstein D., Albino A.P., Houghton A.N. A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase. J. Exp. Med. 177:1993;1135-1143.
-
(1993)
J. Exp. Med.
, vol.177
, pp. 1135-1143
-
-
Morrison, M.E.1
Vijayasaradhi, S.2
Engelstein, D.3
Albino, A.P.4
Houghton, A.N.5
-
9
-
-
0031908130
-
The structure and function of CD26 in the T-cell immune response
-
Morimoto C., Schlossman S.F. The structure and function of CD26 in the T-cell immune response. Immunologic Rev. 161:1998;55-70.
-
(1998)
Immunologic Rev.
, vol.161
, pp. 55-70
-
-
Morimoto, C.1
Schlossman, S.F.2
-
10
-
-
0034612348
-
Enhanced insulin secretion and improved glucose tolerance in mice lacking CD26
-
Marguet D., Baggio L., Kobayashi T., Bernard A.M., Pierres M., Nielsen P.F., Ribel U., Watanabe T., Drucker D.J., Wagtmann N. Enhanced insulin secretion and improved glucose tolerance in mice lacking CD26. Proc. Natl. Acad Sci. USA. 97:2000;6874-6879.
-
(2000)
Proc. Natl. Acad Sci. USA
, vol.97
, pp. 6874-6879
-
-
Marguet, D.1
Baggio, L.2
Kobayashi, T.3
Bernard, A.M.4
Pierres, M.5
Nielsen, P.F.6
Ribel, U.7
Watanabe, T.8
Drucker, D.J.9
Wagtmann, N.10
-
11
-
-
0024848814
-
Distribution of adenosine deaminase-complexing protein in murine tissues
-
Dinjens W.N., ten Kate J., Wijnen J.T., van der Linden E.P., Beek C.J., Lenders M.H., Khan P.M., Bosman F.T. Distribution of adenosine deaminase-complexing protein in murine tissues. J. Biol. Chem. 264:1989;19215-19220.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 19215-19220
-
-
Dinjens, W.N.1
Ten Kate, J.2
Wijnen, J.T.3
Van der Linden, E.P.4
Beek, C.J.5
Lenders, M.H.6
Khan, P.M.7
Bosman, F.T.8
-
12
-
-
0031573556
-
Determination of adenosine deaminase binding domain on CD26 and its immunoregulatory effect on T cell activation
-
Dong R.P., Tachibana K., Hegen M., Munakata Y., Cho D., Schlossman S.F., Morimoto C. Determination of adenosine deaminase binding domain on CD26 and its immunoregulatory effect on T cell activation. J. Immunol. 159:1997;6070-6076.
-
(1997)
J. Immunol.
, vol.159
, pp. 6070-6076
-
-
Dong, R.P.1
Tachibana, K.2
Hegen, M.3
Munakata, Y.4
Cho, D.5
Schlossman, S.F.6
Morimoto, C.7
-
13
-
-
0034613689
-
The binding site of human adenosine deaminase for CD26/dipeptidyl peptidase IV: The Arg142Gln mutation impairs binding to CD26 but does not cause immune deficiency
-
Richard E., Arredondo-Vega F.X., Santisteban I., Kelly S.J., Patel D.D., Hershfield M.S. The binding site of human adenosine deaminase for CD26/dipeptidyl peptidase IV: The Arg142Gln mutation impairs binding to CD26 but does not cause immune deficiency. J. Exp. Med. 192:2000;1223-1235.
-
(2000)
J. Exp. Med.
, vol.192
, pp. 1223-1235
-
-
Richard, E.1
Arredondo-Vega, F.X.2
Santisteban, I.3
Kelly, S.J.4
Patel, D.D.5
Hershfield, M.S.6
-
14
-
-
0037205466
-
Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/Dipeptidyl peptidase IV
-
Richard E., Alam S.M., Arredondo-Vega F.X., Patel D.D., Hershfield M.S. Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/Dipeptidyl peptidase IV. J. Biol. Chem. 277:2002;19720-19726.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 19720-19726
-
-
Richard, E.1
Alam, S.M.2
Arredondo-Vega, F.X.3
Patel, D.D.4
Hershfield, M.S.5
-
15
-
-
0031908810
-
Enzymatic and extraenzymatic role of ecto-adenosine deaminase in lymphocytes
-
Franco R., Valenzuela A., Lluis C., Blanco J. Enzymatic and extraenzymatic role of ecto-adenosine deaminase in lymphocytes. Immunol. Rev. 161:1998;27-42.
-
(1998)
Immunol. Rev.
, vol.161
, pp. 27-42
-
-
Franco, R.1
Valenzuela, A.2
Lluis, C.3
Blanco, J.4
-
16
-
-
0033762817
-
Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures
-
Thompson L.F., Van De Wiele C.J., Laurent A.B., Hooker S.W., Vaughan J.G., Jiang H., Khare K., Kellems R.E., Blackburn M.R., Hershfield M.S.et al. Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures. J. Clin. Invest. 106:2000;1149-1157.
-
(2000)
J. Clin. Invest.
, vol.106
, pp. 1149-1157
-
-
Thompson, L.F.1
Van De Wiele, C.J.2
Laurent, A.B.3
Hooker, S.W.4
Vaughan, J.G.5
Jiang, H.6
Khare, K.7
Kellems, R.E.8
Blackburn, M.R.9
Hershfield, M.S.10
-
17
-
-
0036327878
-
Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation
-
This paper reports evidence that dATP-induced apoptosis is the mechanism by which ADA deficiency leads to reduced thymic T-cell production and, together with [16], shows that dATP arises from dAdo derived from thymocytes failing developmental checkpoints.
-
Van De Wiele C.J., Vaughn J.G., Blackburn M.R., Ledent C.A., Jacobson M., Jiang H., Thompson L.F. Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation. J. Clin. Invest. 110:2002;395-402 This paper reports evidence that dATP-induced apoptosis is the mechanism by which ADA deficiency leads to reduced thymic T-cell production and, together with [16], shows that dATP arises from dAdo derived from thymocytes failing developmental checkpoints.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 395-402
-
-
Van De Wiele, C.J.1
Vaughn, J.G.2
Blackburn, M.R.3
Ledent, C.A.4
Jacobson, M.5
Jiang, H.6
Thompson, L.F.7
-
18
-
-
0029114967
-
P53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency
-
Benveniste P., Cohen A. p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency. Proc. Natl. Acad Sci. USA. 92:1995;8373-8377.
-
(1995)
Proc. Natl. Acad Sci. USA
, vol.92
, pp. 8373-8377
-
-
Benveniste, P.1
Cohen, A.2
-
19
-
-
0030581151
-
Induction of apoptotic program in cell-free extracts: Requirement for dATP and cytochrome c
-
Liu X., Kim C.N., Yang J., Jemmerson R., Wang X. Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c. Cell. 86:1996;147-157.
-
(1996)
Cell
, vol.86
, pp. 147-157
-
-
Liu, X.1
Kim, C.N.2
Yang, J.3
Jemmerson, R.4
Wang, X.5
-
20
-
-
0030715323
-
Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade
-
Li P., Nijhawan D., Budihardjo I., Srinivasula S.M., Ahmad M., Alnemri E.S., Wang X. Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade. Cell. 91:1997;479-489.
-
(1997)
Cell
, vol.91
, pp. 479-489
-
-
Li, P.1
Nijhawan, D.2
Budihardjo, I.3
Srinivasula, S.M.4
Ahmad, M.5
Alnemri, E.S.6
Wang, X.7
-
21
-
-
0027314792
-
Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolase
-
Wolos J.A., Frondorf K.A., Davis G.F., Jarvi E.T., McCarthy J.R., Bowlin T.L. Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolase. J. Immunol. 150:1993;3264-3273.
-
(1993)
J. Immunol.
, vol.150
, pp. 3264-3273
-
-
Wolos, J.A.1
Frondorf, K.A.2
Davis, G.F.3
Jarvi, E.T.4
McCarthy, J.R.5
Bowlin, T.L.6
-
22
-
-
0027293757
-
Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase
-
Wolos J.A., Frondorf K.A., Esser R.E. Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase. J. Immunol. 151:1993;526-534.
-
(1993)
J. Immunol.
, vol.151
, pp. 526-534
-
-
Wolos, J.A.1
Frondorf, K.A.2
Esser, R.E.3
-
23
-
-
0029005901
-
Interference with thymocyte differentiation by an inhibitor of S-adenosylhomocysteine hydrolase
-
Benveniste P., Zhu W., Cohen A. Interference with thymocyte differentiation by an inhibitor of S-adenosylhomocysteine hydrolase. J. Immunol. 155:1995;536-544.
-
(1995)
J. Immunol.
, vol.155
, pp. 536-544
-
-
Benveniste, P.1
Zhu, W.2
Cohen, A.3
-
24
-
-
0029039360
-
Adenosine deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death
-
Migchielsen A.A., Breuer M.L., van Roon M.A., te Riele H., Zurcher C., Ossendorp F., Toutain S., Hershfield M.S., Berns A., Valerio D. Adenosine deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat. Genet. 10:1995;279-287.
-
(1995)
Nat. Genet.
, vol.10
, pp. 279-287
-
-
Migchielsen, A.A.1
Breuer, M.L.2
Van Roon, M.A.3
Te Riele, H.4
Zurcher, C.5
Ossendorp, F.6
Toutain, S.7
Hershfield, M.S.8
Berns, A.9
Valerio, D.10
-
25
-
-
0029005278
-
Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice
-
Wakamiya M., Blackburn M.R., Jurecic R., McArthur M.J., Geske R.S., Cartwright J. Jr., Mitani K., Vaishnav S., Belmont J.W., Kellems R.E.et al. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc. Natl. Acad Sci. USA. 92:1995;3673-3677.
-
(1995)
Proc. Natl. Acad Sci. USA
, vol.92
, pp. 3673-3677
-
-
Wakamiya, M.1
Blackburn, M.R.2
Jurecic, R.3
McArthur, M.J.4
Geske, R.S.5
Cartwright J., Jr.6
Mitani, K.7
Vaishnav, S.8
Belmont, J.W.9
Kellems, R.E.10
-
26
-
-
0029879147
-
Hepatic dysfunction as a complication of adenosine deaminase deficiency
-
Bollinger M.E., Arredondo-Vega F.X., Santisteban I., Schwarz K., Hershfield M.S., Lederman H.M. Hepatic dysfunction as a complication of adenosine deaminase deficiency. N. Engl. J. Med. 334:1996;1367-1371.
-
(1996)
N. Engl. J. Med.
, vol.334
, pp. 1367-1371
-
-
Bollinger, M.E.1
Arredondo-Vega, F.X.2
Santisteban, I.3
Schwarz, K.4
Hershfield, M.S.5
Lederman, H.M.6
-
27
-
-
0030045246
-
Characterization of adenosine deaminase binding to human CD26 on T cells and its biologic role in immune response
-
Dong R.P., Kameoka J., Hegen M., Tanaka T., Xu Y., Schlossman S.F., Morimoto C. Characterization of adenosine deaminase binding to human CD26 on T cells and its biologic role in immune response. J. Immunol. 156:1996;1349-1355.
-
(1996)
J. Immunol.
, vol.156
, pp. 1349-1355
-
-
Dong, R.P.1
Kameoka, J.2
Hegen, M.3
Tanaka, T.4
Xu, Y.5
Schlossman, S.F.6
Morimoto, C.7
-
28
-
-
0034660478
-
A(2A) receptor dependent and A(2A) receptor independent effects of extracellular adenosine on murine thymocytes in conditions of adenosine deaminase deficiency
-
Apasov S., Chen J.F., Smith P., Sitkovsky M. A(2A) receptor dependent and A(2A) receptor independent effects of extracellular adenosine on murine thymocytes in conditions of adenosine deaminase deficiency. Blood. 95:2000;3859-3867.
-
(2000)
Blood
, vol.95
, pp. 3859-3867
-
-
Apasov, S.1
Chen, J.F.2
Smith, P.3
Sitkovsky, M.4
-
29
-
-
0034942561
-
Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling
-
Apasov S.G., Blackburn M.R., Kellems R.E., Smith P.T., Sitkovsky M.V. Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling. J. Clin. Invest. 108:2001;131-141.
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 131-141
-
-
Apasov, S.G.1
Blackburn, M.R.2
Kellems, R.E.3
Smith, P.T.4
Sitkovsky, M.V.5
-
30
-
-
0028790702
-
Expression of ecto-adenosine deaminase and CD26 in human T cells triggered by the TCR-CD3 complex
-
Martin M., Huguet J., Centelles J.J., Franco R. Expression of ecto-adenosine deaminase and CD26 in human T cells triggered by the TCR-CD3 complex. J. Immunol. 155:1995;4630-4643.
-
(1995)
J. Immunol.
, vol.155
, pp. 4630-4643
-
-
Martin, M.1
Huguet, J.2
Centelles, J.J.3
Franco, R.4
-
31
-
-
0032231355
-
Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles
-
Arredondo-Vega F.X., Santisteban I., Daniels S., Toutain S., Hershfield M.S. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am. J. Hum. Genet. 63:1998;1049-1059.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1049-1059
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Daniels, S.3
Toutain, S.4
Hershfield, M.S.5
-
32
-
-
0028205961
-
Correct splicing despite a G>A mutation at the invariant first nucleotide of a 5′ splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase (ADA) deficiency
-
Arredondo-Vega F.X., Santisteban I., Kelly S., Schlossman C., Umetsu D., Hershfield M.S. Correct splicing despite a G>A mutation at the invariant first nucleotide of a 5′ splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase (ADA) deficiency. Am. J. Hum. Genet. 54:1994;820-830.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 820-830
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Kelly, S.3
Schlossman, C.4
Umetsu, D.5
Hershfield, M.S.6
-
33
-
-
0036464720
-
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: Decline in revertant T lymphocytes during enzyme replacement therapy
-
This paper reports an unusual mechanism that is responsible for moderating phenotype in a 16 year old boy, the oldest of four immunodeficient patients homozygous for an intronic ADA gene point mutation, which disrupts splicing. An 11 bp deletion adjacent to the inherited mutation in one ADA allele, acquired in his lymphoid cells, restored normal splicing. Interestingly, the abundance of 'revertant' T cells declined during treatment with PEG-ADA, apparently due to loss of selection for T cells expressing ADA activity. This same phenomenon has been thought to occur in PEG-ADA-treated patients undergoing experimental gene therapy for ADA deficiency
-
Arredondo-Vega F.X., Santisteban I., Richard E., Bali P., Koleilat M., Loubser M., Al-Ghonaium A., Al-Helali M., Hershfield M.S. Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood. 99:2002;1005-1013 This paper reports an unusual mechanism that is responsible for moderating phenotype in a 16 year old boy, the oldest of four immunodeficient patients homozygous for an intronic ADA gene point mutation, which disrupts splicing. An 11 bp deletion adjacent to the inherited mutation in one ADA allele, acquired in his lymphoid cells, restored normal splicing. Interestingly, the abundance of 'revertant' T cells declined during treatment with PEG-ADA, apparently due to loss of selection for T cells expressing ADA activity. This same phenomenon has been thought to occur in PEG-ADA-treated patients undergoing experimental gene therapy for ADA deficiency.
-
(2002)
Blood
, vol.99
, pp. 1005-1013
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Richard, E.3
Bali, P.4
Koleilat, M.5
Loubser, M.6
Al-Ghonaium, A.7
Al-Helali, M.8
Hershfield, M.S.9
-
34
-
-
0034968336
-
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
-
Rogers M.H., Lwin R., Fairbanks L., Gerritsen B., Gaspar H.B. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J. Pediatr. 139:2001;44-50.
-
(2001)
J. Pediatr.
, vol.139
, pp. 44-50
-
-
Rogers, M.H.1
Lwin, R.2
Fairbanks, L.3
Gerritsen, B.4
Gaspar, H.B.5
-
35
-
-
0032570814
-
Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency
-
Blackburn M.R., Datta S.K., Kellems R.E. Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency. J. Biol. Chem. 273:1998;5093-5100.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 5093-5100
-
-
Blackburn, M.R.1
Datta, S.K.2
Kellems, R.E.3
-
36
-
-
0034679559
-
Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction
-
Blackburn M.R., Volmer J.B., Thrasher J.L., Zhong H., Crosby J.R., Lee J.J., Kellems R.E. Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction. J. Exp. Med. 192:2000;159-170.
-
(2000)
J. Exp. Med.
, vol.192
, pp. 159-170
-
-
Blackburn, M.R.1
Volmer, J.B.2
Thrasher, J.L.3
Zhong, H.4
Crosby, J.R.5
Lee, J.J.6
Kellems, R.E.7
-
37
-
-
0034644735
-
The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice: Differential impact on pulmonary and immunologic abnormalities
-
Blackburn M.R., Aldrich M., Volmer J.B., Chen W., Zhong H., Kelly S., Hershfield M., Datta S.K., Kellems R.E. The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice: differential impact on pulmonary and immunologic abnormalities. J. Biol. Chem. 275:2000;32114-32121.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 32114-32121
-
-
Blackburn, M.R.1
Aldrich, M.2
Volmer, J.B.3
Chen, W.4
Zhong, H.5
Kelly, S.6
Hershfield, M.7
Datta, S.K.8
Kellems, R.E.9
-
38
-
-
18044383359
-
Primary immunodeficiency mutation databases
-
Vihinen M., Arrendondo-Vega F.X., Casanova J.-L., Etzioni A., Giliani S., Hammarstrom L., Hershfield M.S., Heyworth P.G., Hsu A.P., Lahdesmaki A.et al. Primary immunodeficiency mutation databases. Adv. Genet. 43:2001;103-188.
-
(2001)
Adv. Genet.
, vol.43
, pp. 103-188
-
-
Vihinen, M.1
Arrendondo-Vega, F.X.2
Casanova, J.-L.3
Etzioni, A.4
Giliani, S.5
Hammarstrom, L.6
Hershfield, M.S.7
Heyworth, P.G.8
Hsu, A.P.9
Lahdesmaki, A.10
-
39
-
-
0020049239
-
Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines
-
Wiginton D.A., Hutton J.J. Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. J. Biol. Chem. 257:1982;3211-3217.
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 3211-3217
-
-
Wiginton, D.A.1
Hutton, J.J.2
-
41
-
-
0027434851
-
Novel splicing, missense, and deletion mutations in 7 adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype
-
Santisteban I., Arredondo-Vega F.X., Kelly S., Mary A., Fischer A., Hummell D.S., Lawton A., Sorensen R.U., Stiehm E.R., Uribe L.et al. Novel splicing, missense, and deletion mutations in 7 adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. J. Clin. Invest. 92:1993;2291-2302.
-
(1993)
J. Clin. Invest.
, vol.92
, pp. 2291-2302
-
-
Santisteban, I.1
Arredondo-Vega, F.X.2
Kelly, S.3
Mary, A.4
Fischer, A.5
Hummell, D.S.6
Lawton, A.7
Sorensen, R.U.8
Stiehm, E.R.9
Uribe, L.10
-
42
-
-
0030940074
-
Adenosine deaminase deficiency in adults
-
Ozsahin H., Arredondo-Vega F.X., Santisteban I., Fuhrer H., Tuchschmid P., Jochum W., Aguzzi A., Lederman H.M., Fleischman A., Winkelstein J.A.et al. Adenosine deaminase deficiency in adults. Blood. 89:1997;2849-2855.
-
(1997)
Blood
, vol.89
, pp. 2849-2855
-
-
Ozsahin, H.1
Arredondo-Vega, F.X.2
Santisteban, I.3
Fuhrer, H.4
Tuchschmid, P.5
Jochum, W.6
Aguzzi, A.7
Lederman, H.M.8
Fleischman, A.9
Winkelstein, J.A.10
-
43
-
-
0035253698
-
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency
-
Ariga T., Oda N., Santisteban I., Arredondo-Vega F.X., Shioda M., Ueno H., Terada K., Kobayashi K., Hershfield M.S., Sakiyama Y. Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. J. Immunol. 166:2001;1698-1702.
-
(2001)
J. Immunol.
, vol.166
, pp. 1698-1702
-
-
Ariga, T.1
Oda, N.2
Santisteban, I.3
Arredondo-Vega, F.X.4
Shioda, M.5
Ueno, H.6
Terada, K.7
Kobayashi, K.8
Hershfield, M.S.9
Sakiyama, Y.10
-
44
-
-
0028136274
-
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency
-
Shovlin C.L., Simmonds H.A., Fairbanks L.D., Deacock S.J., Hughes J.M., Lechler R.I., Webster A.D., Sun X.M., Webb J.C., Soutar A.K. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J. Immunol. 153:1994;2331-2339.
-
(1994)
J. Immunol.
, vol.153
, pp. 2331-2339
-
-
Shovlin, C.L.1
Simmonds, H.A.2
Fairbanks, L.D.3
Deacock, S.J.4
Hughes, J.M.5
Lechler, R.I.6
Webster, A.D.7
Sun, X.M.8
Webb, J.C.9
Soutar, A.K.10
-
45
-
-
0024508043
-
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
-
Hirschhorn R., Tzall S., Ellenbogen A., Orkin S.H. Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest. 83:1989;497-501.
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 497-501
-
-
Hirschhorn, R.1
Tzall, S.2
Ellenbogen, A.3
Orkin, S.H.4
-
46
-
-
0028806224
-
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: Implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
-
Santisteban I., Arredondo-Vega F.X., Kelly S., Loubser M., Meydan N., Roifman C., Howell P.L., Bowen T., Weinberg K.I., Schroeder M.L.et al. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum. Mol. Genet. 4:1995;2081-2087.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2081-2087
-
-
Santisteban, I.1
Arredondo-Vega, F.X.2
Kelly, S.3
Loubser, M.4
Meydan, N.5
Roifman, C.6
Howell, P.L.7
Bowen, T.8
Weinberg, K.I.9
Schroeder, M.L.10
-
47
-
-
0030840913
-
Two newly identified mutations (Thr233Ile and Leu152Met) in partial adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes
-
Hirschhorn R., Borkowsky W., Jiang C.K., Yang D.R., Jenkins T. Two newly identified mutations (Thr233Ile and Leu152Met) in partial adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. Hum. Genet. 100:1997;22-29.
-
(1997)
Hum. Genet.
, vol.100
, pp. 22-29
-
-
Hirschhorn, R.1
Borkowsky, W.2
Jiang, C.K.3
Yang, D.R.4
Jenkins, T.5
-
48
-
-
0027954048
-
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
-
Hirschhorn R., Yang D.R., Israni A., Huie M.L., Ownby D.R. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genet. 55:1994;59-68.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 59-68
-
-
Hirschhorn, R.1
Yang, D.R.2
Israni, A.3
Huie, M.L.4
Ownby, D.R.5
-
49
-
-
0029902033
-
Spontaneous reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
-
Hirschhorn R., Yang D.R., Puck J.M., Huie M.L., Jiang C.-K., Kurlandsky L.E. Spontaneous reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13:1996;290-295.
-
(1996)
Nat. Genet.
, vol.13
, pp. 290-295
-
-
Hirschhorn, R.1
Yang, D.R.2
Puck, J.M.3
Huie, M.L.4
Jiang, C.-K.5
Kurlandsky, L.E.6
-
50
-
-
0035353160
-
T cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation
-
Ariga T., Oda N., Yamaguchi K., Kawamura K., Kikuta H., Taniuchi S., Kobayashi Y., Terada K., Ikeda H., Hershfield M.S.et al. T cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. Blood. 97:2001;2896-2899.
-
(2001)
Blood
, vol.97
, pp. 2896-2899
-
-
Ariga, T.1
Oda, N.2
Yamaguchi, K.3
Kawamura, K.4
Kikuta, H.5
Taniuchi, S.6
Kobayashi, Y.7
Terada, K.8
Ikeda, H.9
Hershfield, M.S.10
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