-
1
-
-
0014931817
-
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease
-
Mohler DN, Majerus PW, Minnich V, Hess CE, Garrick MD (1970) Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. N Engl J Med 283:1253-1257
-
(1970)
N Engl J Med
, vol.283
, pp. 1253-1257
-
-
Mohler, D.N.1
Majerus, P.W.2
Minnich, V.3
Hess, C.E.4
Garrick, M.D.5
-
2
-
-
0032784573
-
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency
-
Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M (1999) Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet 55(6):444-449
-
(1999)
Clin Genet
, vol.55
, Issue.6
, pp. 444-449
-
-
Al-Jishi, E.1
Meyer, B.F.2
Rashed, M.S.3
Al-Essa, M.4
Al-Hamed, M.H.5
Sakati, N.6
Sanjad, S.7
Ozand, P.T.8
Kambouris, M.9
-
3
-
-
0001761022
-
Hereditary absence of reduced glutathione in the erythrocytes-A new clinical and biochemical entity? (Preliminary communication)
-
doi: 10.1111/j.1423-0410.1961.tb03178.x
-
Oort M, Loos JA, Prins HK (1961) Hereditary absence of reduced glutathione in the erythrocytes-a new clinical and biochemical entity? (Preliminary communication). Vox Sang 6:370-373. doi: 10.1111/j.1423-0410.1961. tb03178.x
-
(1961)
Vox Sang
, vol.6
, pp. 370-373
-
-
Oort, M.1
Loos, J.A.2
Prins, H.K.3
-
4
-
-
0013879131
-
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies
-
Prins HK, Oort M, Loos JA, Zurcher C, Beckers T (1966) Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies. Blood 27:145-166
-
(1966)
Blood
, vol.27
, pp. 145-166
-
-
Prins, H.K.1
Oort, M.2
Loos, J.A.3
Zurcher, C.4
Beckers, T.5
-
5
-
-
0017852992
-
Biochemical heterogeneity in glutathione synthetase deficiency
-
doi:10.1172/JCI109060
-
Spielberg SP, Garrick MD, Corash LM, Butler JB, Tietze F, Rogers L, Schulman JD (1978) Biochemical heterogeneity in glutathione synthetase deficiency. J Clin Invest 61:1417-1420. doi:10.1172/JCI109060
-
(1978)
J Clin Invest
, vol.61
, pp. 1417-1420
-
-
Spielberg, S.P.1
Garrick, M.D.2
Corash, L.M.3
Butler, J.B.4
Tietze, F.5
Rogers, L.6
Schulman, J.D.7
-
6
-
-
0034964577
-
Long-term clinical outcome in patients with glutathione synthetase deficiency
-
DOI 10.1067/mpd.2001.114480
-
Ristoff E, Mayatepek E, Larsson A (2001) Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr 139:79-84. doi:10.1067/mpd.2001.114480 (Pubitemid 32613991)
-
(2001)
Journal of Pediatrics
, vol.139
, Issue.1
, pp. 79-84
-
-
Ristoff, E.1
Mayatepek, E.2
Larsson, A.3
-
7
-
-
0022570709
-
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency
-
doi: 10.1172/JCI112298
-
Beutler E, Gelbart T, Pegelow C (1986) Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. J Clin Invest 77:38-41. doi: 10.1172/JCI112298
-
(1986)
J Clin Invest
, vol.77
, pp. 38-41
-
-
Beutler, E.1
Gelbart, T.2
Pegelow, C.3
-
8
-
-
0020972417
-
Glutathione
-
doi:10.1146/annurev.bi.52.070183.003431
-
Meister A, Anderson ME (1983) Glutathione. Annu Rev Biochem 52:711-760. doi:10.1146/annurev.bi.52.070183.003431
-
(1983)
Annu Rev Biochem
, vol.52
, pp. 711-760
-
-
Meister, A.1
Anderson, M.E.2
-
9
-
-
0026744569
-
The physiological consequences of glutathione variations
-
doi:10.1016/0024-3205(92)90509-N
-
Uhlig S, Wendel A (1992) The physiological consequences of glutathione variations. Life Sci 51:1083-1094. doi:10.1016/0024-3205 (92)90509-N
-
(1992)
Life Sci
, vol.51
, Issue.1083-1094
-
-
Uhlig, S.1
Wendel, A.2
-
10
-
-
0030292360
-
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
-
doi:10.1038/ng1196-361
-
ShiZ-Z,HabibGM,RheadWJ,GahlWA,HeX, Sazer S,Lieberman MW (1996) Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet 14:361-365. doi:10.1038/ng1196-361
-
(1996)
Nat Genet
, vol.14
, pp. 361-365
-
-
Shi, Z.-Z.1
Habib, G.M.2
Rhead, W.J.3
Gahl, W.A.4
He, X.5
Sazer, S.6
Lieberman, M.W.7
-
11
-
-
0035120660
-
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: Clinical and molecular studies
-
DOI 10.1046/j.1365-2141.2001.02526.x
-
Vives Corrons J-L, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E (2001) Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: Clinical and molecular studies. Br J Haematol 112:475-482. doi:10.1046/j.1365-2141.2001.02526.x (Pubitemid 32183497)
-
(2001)
British Journal of Haematology
, vol.112
, Issue.2
, pp. 475-482
-
-
Corrons, J.-L.V.1
Alvarez, R.2
Pujades, A.3
Zarza, R.4
Oliva, E.5
Lasheras, G.6
Callis, M.7
Ribes, A.8
Gelbart, T.9
Beutler, E.10
-
12
-
-
0030876935
-
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
-
DOI 10.1093/hmg/6.7.1147
-
Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P (1997) Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5- oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum Mol Genet 6:1147-1152. doi:10.1093/hmg/6.7.1147 (Pubitemid 27308401)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.7
, pp. 1147-1152
-
-
Dahl, N.1
Pigg, M.2
Ristoff, E.3
Gali, R.4
Carlsson, B.5
Mannervik, B.6
Larsson, A.7
Board, P.8
-
13
-
-
14844283016
-
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency
-
DOI 10.1007/s00439-005-1255-6
-
Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S (2005) Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet 116:384-389. doi:10.1007/s00439-005-1255-6 (Pubitemid 40521115)
-
(2005)
Human Genetics
, vol.116
, Issue.5
, pp. 384-389
-
-
Njalsson, R.1
Ristoff, E.2
Carlsson, K.3
Winkler, A.4
Larsson, A.5
Norgren, S.6
-
14
-
-
0029609384
-
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2
-
DOI 10.1006/geno.1995.1287
-
Webb GC, Vaska VL, Gali RR, Ford JH, Board PG (1995) The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. Genomics 30:617-619. doi:10.1006/geno.1995.1287 (Pubitemid 26038561)
-
(1995)
Genomics
, vol.30
, Issue.3
, pp. 617-619
-
-
Webb, G.C.1
Vaska, V.L.2
Gali, R.R.3
Ford, J.H.4
Board, P.G.5
-
15
-
-
27444431653
-
Elevated 8-isoprostane levels in basal cell carcinoma and in UVA irradiated skin
-
Belli R, Amerio P, Brunetti L, Orlando G, Toto P, Proietto G, Vacca M, Tulli A (2005) Elevated 8-isoprostane levels in basal cell carcinoma and in UVA irradiated skin. Int J Immunopathol Pharmacol 18:497-502
-
(2005)
Int J Immunopathol Pharmacol
, vol.18
, pp. 497-502
-
-
Belli, R.1
Amerio, P.2
Brunetti, L.3
Orlando, G.4
Toto, P.5
Proietto, G.6
Vacca, M.7
Tulli, A.8
-
16
-
-
0347355284
-
Application of gas chromatography-mass spectrometry for analysis of isoprostanes: Their role in cardiovascular disease
-
DOI 10.1515/CCLM.2003.238
-
Schwedhelm E, Boger RH (2003) Application of gas chromatography- mass spectrometry for analysis of isoprostanes: Their role in cardiovascular disease. Clin Chem Lab Med 41:1552-1561. doi: 10.1515/CCLM.2003.238 (Pubitemid 38063066)
-
(2003)
Clinical Chemistry and Laboratory Medicine
, vol.41
, Issue.12
, pp. 1552-1561
-
-
Schwedhelm, E.1
Boger, R.H.2
-
17
-
-
0013179840
-
Expression of a novel splicing variant deleting exons 4 and 6 of the progesterone receptor gene is a rare event in breast cancer
-
Nagao K, Kohno N, Wakita K, Hikiji K, Hirata H, Hisatomi H (2003) Expression of a novel splicing variant deleting exons 4 and 6 of the progesterone receptor gene is a rare event in breast cancer. Oncol Rep 10:305-308
-
(2003)
Oncol Rep
, vol.10
, pp. 305-308
-
-
Nagao, K.1
Kohno, N.2
Wakita, K.3
Hikiji, K.4
Hirata, H.5
Hisatomi, H.6
-
18
-
-
0008234549
-
Alternative splicing of human genes: More the rule than the exception?
-
DOI 10.1016/S0168-9525(99)01830-2, PII S0168952599018302
-
Hanke J, Brett D, Zastrow I, Aydin A, Delbruck S, Lehmann G, Luft F, Reich J, Bork P (1999) Alternative splicing of human genes: More the rule than the exception? Trends Genet 15:389-390. doi:10.1016/S0168-9525(99)01830-2 (Pubitemid 29469066)
-
(1999)
Trends in Genetics
, vol.15
, Issue.10
, pp. 389-390
-
-
Hanke, J.1
Brett, D.2
Zastrow, I.3
Aydin, A.4
Delbruck, S.5
Lehmann, G.6
Luft, F.7
Reich, J.8
Bork, P.9
-
19
-
-
0342723790
-
Frequent alternative splicing of human genes
-
DOI 10.1101/gr.9.12.1288
-
Mironov AA, Fickett JW, Gelfland MS (1999) Frequent alternative splicing of human genes. Genome Res 9:1288-1293. doi: 10.1101/gr.9.12.1288 (Pubitemid 30042512)
-
(1999)
Genome Research
, vol.9
, Issue.12
, pp. 1288-1293
-
-
Mironov, A.A.1
Fickett, J.W.2
Gelfand, M.S.3
-
20
-
-
0029959817
-
Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism
-
doi:10.1073/pnas. 93.22.12394
-
Stallings-Mann ML, Ludwiczak RL, Klinger KW, Rottman F (1996) Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism. Proc Natl Acad Sci USA 93:12394-12399. doi:10.1073/pnas. 93.22.12394
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 12394-12399
-
-
Stallings-Mann, M.L.1
Ludwiczak, R.L.2
Klinger, K.W.3
Rottman, F.4
-
21
-
-
0031202066
-
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
-
doi:10.1038/ng0897-328
-
Liu W, Qian C, Francke U (1997) Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 16: 328-329. doi:10.1038/ng0897- 328
-
(1997)
Nat Genet
, vol.16
, pp. 328-329
-
-
Liu, W.1
Qian, C.2
Francke, U.3
-
22
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
DOI 10.1093/hmg/8.10.1893
-
Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1990. doi: 10.1093/hmg/8.10.1893 (Pubitemid 29458667)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.10
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
23
-
-
0034704201
-
Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
-
doi:10.1016/ S0092-86740000214-2
-
Lykke-Andersen J, Shu MD, Steitz JA (2000) Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103:1121-1131. doi:10.1016/ S0092-8674(00)00214-2
-
(2000)
Cell
, vol.103
, pp. 1121-1131
-
-
Lykke-Andersen, J.1
Shu, M.D.2
Steitz, J.A.3
-
24
-
-
0027288912
-
The role of exon sequences in splice site selection
-
doi: 10.1101/gad.7.3.407
-
Watakabe A, Tanaka K, Shimura Y (1993) The role of exon sequences in splice site selection. Genes Dev 7:407-418. doi: 10.1101/gad.7.3.407
-
(1993)
Genes Dev
, vol.7
, pp. 407-418
-
-
Watakabe, A.1
Tanaka, K.2
Shimura, Y.3
-
25
-
-
0036544654
-
Disruption of an SF2/ASFdependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
doi:10.1038/ng854
-
Cartegni L, Krainer AR (2002) Disruption of an SF2/ASFdependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 30:377-384. doi:10.1038/ng854
-
(2002)
Nat Genet
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
26
-
-
0035158730
-
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
-
Liu HX, Cartegni L, Zhang MQ, Krainer AR (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27:55-58
-
(2001)
Nat Genet
, vol.27
, pp. 55-58
-
-
Liu, H.X.1
Cartegni, L.2
Zhang, M.Q.3
Krainer, A.R.4
-
27
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
DOI 10.1093/nar/gkg616
-
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568-3571. doi:10.1093/nar/gkg616 (Pubitemid 37442199)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
28
-
-
33747891736
-
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
-
DOI 10.1093/hmg/ddl171
-
Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR (2006) An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 15:2490-2508. doi:10.1093/hmg/ddl171 (Pubitemid 44288702)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.16
, pp. 2490-2508
-
-
Smith, P.J.1
Zhang, C.2
Wang, J.3
Chew, S.L.4
Zhang, M.Q.5
Krainer, A.R.6
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