-
1
-
-
0015515283
-
Adenosinedeaminase deficiency in two palients with severely impaired cellular immunity
-
Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosinedeaminase deficiency in two palients with severely impaired cellular immunity. Lancet 1972;2:1067-9.
-
(1972)
Lancet
, vol.2
, pp. 1067-1069
-
-
Giblett, E.R.1
Anderson, J.E.2
Cohen, F.3
Pollara, B.4
Meuwissen, H.J.5
-
2
-
-
0025690483
-
Adenosine deaminase deficiency
-
Hirschhorn R. Adenosine deaminase deficiency. Immunodefic Rev 1990;2: 175-98.
-
(1990)
Immunodefic Rev
, vol.2
, pp. 175-198
-
-
Hirschhorn, R.1
-
3
-
-
0002377290
-
Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency
-
Scriver CR, Beaudet AL. Sly WS, Valle D, eds. New York: McGraw-Hill
-
Hershfield MS, Mitchell BS. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In: Scriver CR, Beaudet AL. Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. Vol. 2. New York: McGraw-Hill, 1995:1725-68.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, vol.2
, pp. 1725-1768
-
-
Hershfield, M.S.1
Mitchell, B.S.2
-
5
-
-
0018909133
-
Amelioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency
-
Hirschhorn R, Papageorgiou PS, Kesarwala HH, Taft LT. Amelioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency. N Engl J Med 1980;303:377-80.
-
(1980)
N Engl J Med
, vol.303
, pp. 377-380
-
-
Hirschhorn, R.1
Papageorgiou, P.S.2
Kesarwala, H.H.3
Taft, L.T.4
-
6
-
-
0029005278
-
Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice
-
Wakamiya M, Blackburn MR, Jurecic R, et al. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A 1995;92:3673-7.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 3673-3677
-
-
Wakamiya, M.1
Blackburn, M.R.2
Jurecic, R.3
-
7
-
-
0029039360
-
Adenosine-deaminasedeficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death
-
Migchielsen AAJ, Breuer ML, van Roon MA, et al. Adenosine-deaminasedeficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat Genet 1995;10:279-87.
-
(1995)
Nat Genet
, vol.10
, pp. 279-287
-
-
Migchielsen, A.A.J.1
Breuer, M.L.2
Van Roon, M.A.3
-
8
-
-
0021760867
-
Sequence of human adenosine deaminase cDNA including the coding region and a small intron
-
Wiginton DA, Adrian GS, Mutton JJ. Sequence of human adenosine deaminase cDNA including the coding region and a small intron. Nucleic Acids Res 1984;12:2439-46.
-
(1984)
Nucleic Acids Res
, vol.12
, pp. 2439-2446
-
-
Wiginton, D.A.1
Adrian, G.S.2
Mutton, J.J.3
-
9
-
-
0022887765
-
Complete sequence and structure of the gene for human adenosine deaminase
-
Wiginton DA, Kaplan DJ, States JC, et al. Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry 1986;25:8234-44.
-
(1986)
Biochemistry
, vol.25
, pp. 8234-8244
-
-
Wiginton, D.A.1
Kaplan, D.J.2
States, J.C.3
-
10
-
-
0027434851
-
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: Contribution of genotype to phenotype
-
Santisteban I, Arredondo-Vega FX, Kelly S, et al. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype. J Clin Invest 1993;92:2291-302.
-
(1993)
J Clin Invest
, vol.92
, pp. 2291-2302
-
-
Santisteban, I.1
Arredondo-Vega, F.X.2
Kelly, S.3
-
11
-
-
0028205961
-
Correct splicing despite mutation of the invariant first nucleotide of a 5′ splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency
-
Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS. Correct splicing despite mutation of the invariant first nucleotide of a 5′ splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. Am J Hum Genet 1994;54: 820-30.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 820-830
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Kelly, S.3
Schlossman, C.M.4
Umetsu, D.T.5
Hershfield, M.S.6
-
12
-
-
0028935756
-
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site
-
Santisteban I, Arredondo-Vega FX, Kelly S, et al. Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site. Hum Mutat 1995;5:243-50.
-
(1995)
Hum Mutat
, vol.5
, pp. 243-250
-
-
Santisteban, I.1
Arredondo-Vega, F.X.2
Kelly, S.3
-
13
-
-
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 FX, Kelly S, 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 1995;4:2081-7.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2081-2087
-
-
Santisteban, I.1
Arredondo-Vega, F.X.2
Kelly, S.3
-
14
-
-
0024997299
-
Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency
-
Arredondo-Vega FX, Kurtzberg J, Chaffee S, et al. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency. J Clin Invest 1990; 86:444-52.
-
(1990)
J Clin Invest
, vol.86
, pp. 444-452
-
-
Arredondo-Vega, F.X.1
Kurtzberg, J.2
Chaffee, S.3
-
15
-
-
0023146216
-
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase
-
Hershfield MS, Buckley RH, Greenberg ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987;316:589-96.
-
(1987)
N Engl J Med
, vol.316
, pp. 589-596
-
-
Hershfield, M.S.1
Buckley, R.H.2
Greenberg, M.L.3
-
16
-
-
0027180016
-
T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase
-
Weinberg K, Hershfield MS, Bastian J, et al. T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase. J Clin Invest 1993;92:596-602.
-
(1993)
J Clin Invest
, vol.92
, pp. 596-602
-
-
Weinberg, K.1
Hershfield, M.S.2
Bastian, J.3
-
17
-
-
0027469895
-
Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: Overview and case reports of three patients, including two now receiving gene therapy
-
Hershfield MS, Chaffee S, Sorensen RU. Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy. Pediatr Res 1993;33:Suppl:S42-S48.
-
(1993)
Pediatr Res
, vol.33
, Issue.SUPPL.
-
-
Hershfield, M.S.1
Chaffee, S.2
Sorensen, R.U.3
-
18
-
-
0028907019
-
PEG-ADA: An alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency
-
Hershfield MS. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutai 1995;5:107-12.
-
(1995)
Hum Mutai
, vol.5
, pp. 107-112
-
-
Hershfield, M.S.1
-
19
-
-
0029081965
-
PEG-ADA replacement therapy for adenosine deaminase deficiency: An update after 8.5 years
-
Idem. PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin Immunol Immunopathol 1995;76:S228-S232.
-
(1995)
Clin Immunol Immunopathol
, vol.76
-
-
Hershfield, M.S.1
-
20
-
-
0023212149
-
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing
-
Akeson AL, Wiginton DA, Slates JC, Perme CM, Dusing MR, Hutton JJ. Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Proc Natl Acad Sci USA 1987;84:5947-51.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 5947-5951
-
-
Akeson, A.L.1
Wiginton, D.A.2
Slates, J.C.3
Perme, C.M.4
Dusing, M.R.5
Hutton, J.J.6
-
21
-
-
0024423561
-
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution
-
Markert ML, Norby-Slycord C, Ward FE. A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. Am J Hum Genet 1989;45:354-61.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 354-361
-
-
Markert, M.L.1
Norby-Slycord, C.2
Ward, F.E.3
-
22
-
-
0023745214
-
Mutant human adenosine deaminase alleles and their expression of transfection into fibroblasts
-
Akeson AL, Wiginton DA, Dusing MR, States JC, Hutton JJ. Mutant human adenosine deaminase alleles and their expression of transfection into fibroblasts. J Biol Chem 1988;263:16291-6.
-
(1988)
J Biol Chem
, vol.263
, pp. 16291-16296
-
-
Akeson, A.L.1
Wiginton, D.A.2
Dusing, M.R.3
States, J.C.4
Hutton, J.J.5
-
23
-
-
0021888349
-
Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations
-
Ratech H. Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R. Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol 1985;120:157-69.
-
(1985)
Am J Pathol
, vol.120
, pp. 157-169
-
-
Ratech, H.1
Greco, M.A.2
Gallo, G.3
Rimoin, D.L.4
Kamino, H.5
Hirschhorn, R.6
-
24
-
-
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 Aci U S A 1995;92:8373-7.
-
(1995)
Proc Natl Acad Aci U S A
, vol.92
, pp. 8373-8377
-
-
Benveniste, P.1
Cohen, A.2
-
25
-
-
0018355271
-
Apparent suicide inactivation of human lymphoblast S-adenosylhomocystcine hydrolase by 2′-deoxyadenosine and adenine arabinoside: A basis for direct toxic effects of analogs of adenosine
-
Hershfield MS. Apparent suicide inactivation of human lymphoblast S-adenosylhomocystcine hydrolase by 2′-deoxyadenosine and adenine arabinoside: a basis for direct toxic effects of analogs of adenosine. J Biol Chem 1979;254:22-5.
-
(1979)
J Biol Chem
, vol.254
, pp. 22-25
-
-
Hershfield, M.S.1
-
26
-
-
0017717986
-
Role of S-adenosylhomocysteine in adenosine mediated toxicity in cultured mouse T lymphoma cells
-
Kredich NM, Martin DV Jr. Role of S-adenosylhomocysteine in adenosine mediated toxicity in cultured mouse T lymphoma cells. Cell 1977;12:931 8.
-
(1977)
Cell
, vol.12
, pp. 9318
-
-
Kredich, N.M.1
Martin Jr., D.V.2
-
27
-
-
0345478748
-
Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation
-
Hershfield MS, Kredich NM. Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation. Proc Natl Acad Sci U S A 1980;77:4292-6.
-
(1980)
Proc Natl Acad Sci U S A
, vol.77
, pp. 4292-4296
-
-
Hershfield, M.S.1
Kredich, N.M.2
-
28
-
-
0027314792
-
Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolase
-
Wolos JA, Frondorf KA, Davis GF, Jarvi ET, McCarthy JR, Bowlin TL. Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolase. J Immunol 1993;150:3264-73.
-
(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
-
29
-
-
0027293757
-
Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase: Prevention and treatment of collagen-induced arthritis
-
Wolos JA, Frondorf KA, Esser RE. Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase: prevention and treatment of collagen-induced arthritis. J Immunol 1993;151:526-34.
-
(1993)
J Immunol
, vol.151
, pp. 526-534
-
-
Wolos, J.A.1
Frondorf, K.A.2
Esser, R.E.3
-
30
-
-
0343759201
-
S-adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human origin
-
Kredich NM, Hershfield MS. S-adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human origin. Proc Natl Acad Sci U S A 1979;76:2450-4.
-
(1979)
Proc Natl Acad Sci U S A
, vol.76
, pp. 2450-2454
-
-
Kredich, N.M.1
Hershfield, M.S.2
-
31
-
-
0024371483
-
Rapid appearance of hypomethylated DNA in livers of rats fed cancer-promoting, methyl-deficient diets
-
Wainfan E, Dizik M, Slender M, Christman JK. Rapid appearance of hypomethylated DNA in livers of rats fed cancer-promoting, methyl-deficient diets. Cancer Res 1989;49:4094-7.
-
(1989)
Cancer Res
, vol.49
, pp. 4094-4097
-
-
Wainfan, E.1
Dizik, M.2
Slender, M.3
Christman, J.K.4
-
32
-
-
0010452104
-
c-myc Gene amplification during hepatocarcinogenesis by a choline-devoid diet
-
Chandar N, Lombardi B, Locker J. c-myc Gene amplification during hepatocarcinogenesis by a choline-devoid diet. Proc Natl Acad Sci U S A 1989; 86:2703-7.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 2703-2707
-
-
Chandar, N.1
Lombardi, B.2
Locker, J.3
-
33
-
-
0028224866
-
Methyl group deficiency in hepatocarcinogenesis
-
Poirier LA. Methyl group deficiency in hepatocarcinogenesis. Drug Metab Rev 1994;26:185-99.
-
(1994)
Drug Metab Rev
, vol.26
, pp. 185-199
-
-
Poirier, L.A.1
-
34
-
-
0029126218
-
Adenosine deaminase deficiency: Molecular basis and recent developments
-
Hirschhorn R. Adenosine deaminase deficiency: molecular basis and recent developments. Clin Immunol Immunopathol 1995;76:S219-S227.
-
(1995)
Clin Immunol Immunopathol
, vol.76
-
-
Hirschhorn, R.1
-
35
-
-
0000713561
-
1-Antitrypsin deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D. eds. New York: McGraw-Hill
-
1-Antitrypsin deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D. eds. The metabolic and molecular bases of inherited disease. 7th ed. Vol. 3. New York: McGraw-Hill, 1995:4125-58.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, vol.3
, pp. 4125-4158
-
-
Cox, D.W.1
-
36
-
-
0024815240
-
The use of HLA-non-identical T-cell-depleted marrow for transplants for correction of severe combined immunodeficiency disease
-
O'Reilly RJ, Keever CA, Small TN, Brochstein J. The use of HLA-non-identical T-cell-depleted marrow for transplants for correction of severe combined immunodeficiency disease. Immunodetic Rev 1989;1:273-309.
-
(1989)
Immunodetic Rev
, vol.1
, pp. 273-309
-
-
O'Reilly, R.J.1
Keever, C.A.2
Small, T.N.3
Brochstein, J.4
-
37
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan JL, Vlekova V, Le Deist F, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993;123:564-72.
-
(1993)
J Pediatr
, vol.123
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le Deist, F.3
-
38
-
-
0027477193
-
Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation
-
Dror Y, Gallagher R, Wara DW, et al. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation. Blood 1993;81:2021-30.
-
(1993)
Blood
, vol.81
, pp. 2021-2030
-
-
Dror, Y.1
Gallagher, R.2
Wara, D.W.3
|