-
1
-
-
37149022518
-
Human primary immunodeficiency diseases
-
Fischer A. Human primary immunodeficiency diseases. Immunity 2007; 27:835-845.
-
(2007)
Immunity
, vol.27
, pp. 835-845
-
-
Fischer, A.1
-
2
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
Marodi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol 2007; 7:851-861.
-
(2007)
Nat Rev Immunol
, vol.7
, pp. 851-861
-
-
Marodi, L.1
Notarangelo, L.D.2
-
3
-
-
34948872289
-
-
Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120:776-794. A comprehensive update on the classification of primary immunodeficiencies and the responsible genes. This is the official classification of the world body I.U.I.S.
-
Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120:776-794. A comprehensive update on the classification of primary immunodeficiencies and the responsible genes. This is the official classification of the world body I.U.I.S.
-
-
-
-
4
-
-
35348865528
-
Safety of IGIV therapy and infusion-related adverse events
-
Ballow M. Safety of IGIV therapy and infusion-related adverse events. Immunol Res 2007; 38:122-132.
-
(2007)
Immunol Res
, vol.38
, pp. 122-132
-
-
Ballow, M.1
-
5
-
-
0014433553
-
Immunological reconstitution of sex-linked lymphopenic immunological deficiency
-
Gatti RA, Meuwissen HJ, Allen HD, et al. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 1968; 2:1366-1369.
-
(1968)
Lancet
, vol.2
, pp. 1366-1369
-
-
Gatti, R.A.1
Meuwissen, H.J.2
Allen, H.D.3
-
7
-
-
38849111201
-
Hematopoietic stem cell transplantation for primary immunodeficiency disease
-
Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for primary immunodeficiency disease. Bone Marrow Transplant 2008; 41:119-126.
-
(2008)
Bone Marrow Transplant
, vol.41
, pp. 119-126
-
-
Dvorak, C.C.1
Cowan, M.J.2
-
8
-
-
9644272573
-
Perspectives of gene therapy for primary immunodeficiencies
-
Chinen J, Puck JM. Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 2004; 4:523-527.
-
(2004)
Curr Opin Allergy Clin Immunol
, vol.4
, pp. 523-527
-
-
Chinen, J.1
Puck, J.M.2
-
9
-
-
35848965496
-
Progress and prospects: Gene therapy clinical trials (part 2)
-
Aiuti A, Bachoud-Levi AC, Blesch A, et al. Progress and prospects: gene therapy clinical trials (part 2). Gene Ther 2007; 14:1555-1563.
-
(2007)
Gene Ther
, vol.14
, pp. 1555-1563
-
-
Aiuti, A.1
Bachoud-Levi, A.C.2
Blesch, A.3
-
10
-
-
0142084745
-
LM02-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
-
Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. LM02-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003; 302:415-419.
-
(2003)
Science
, vol.302
, pp. 415-419
-
-
Hacein-Bey-Abina, S.1
Von Kalle, C.2
Schmidt, M.3
-
11
-
-
41849142699
-
High incidence of leukemia in large animals after stem cell gene therapy with a HOXB4-expressing retroviral vector
-
Zhang XB, Beard BC, Trobridge GD, et al. High incidence of leukemia in large animals after stem cell gene therapy with a HOXB4-expressing retroviral vector. J Clin Invest 2008; 118:1502-1510.
-
(2008)
J Clin Invest
, vol.118
, pp. 1502-1510
-
-
Zhang, X.B.1
Beard, B.C.2
Trobridge, G.D.3
-
12
-
-
58349092535
-
-
Mitui M, Nahas S, Du LT, et al. Functional and computational assessment of missense variants in the ATM gene: mutations with increased cancer risk. Hum Mut. doi: 10.1002/humu.20805. [Epub ahead of print] This is the first attempt to evaluate heterozygous nonsynonymous DNA changes by stably transfecting each allele into a single host cell so that functional consequences can be evaluated in detail and compared to clinical phenotypes.
-
Mitui M, Nahas S, Du LT, et al. Functional and computational assessment of missense variants in the ATM gene: mutations with increased cancer risk. Hum Mut. doi: 10.1002/humu.20805. [Epub ahead of print] This is the first attempt to evaluate heterozygous nonsynonymous DNA changes by stably transfecting each allele into a single host cell so that functional consequences can be evaluated in detail and compared to clinical phenotypes.
-
-
-
-
13
-
-
43349103985
-
SNPLims: A data management system for genome wide association studies
-
Orro A, Guffanti G, Salvi E, et al. SNPLims: a data management system for genome wide association studies. BMC Bioinformatics 2008; 9 (Suppl 2):S13.
-
(2008)
BMC Bioinformatics
, vol.9
, Issue.SUPPL. 2
-
-
Orro, A.1
Guffanti, G.2
Salvi, E.3
-
15
-
-
33845935532
-
Translational readthrough induction of pathogenic nonsense mutations
-
Kellermayer R. Translational readthrough induction of pathogenic nonsense mutations. Eur J Med Genet 2006; 49:445-450.
-
(2006)
Eur J Med Genet
, vol.49
, pp. 445-450
-
-
Kellermayer, R.1
-
16
-
-
33845996905
-
-
Zingman LV, Park S, Olson TM, et al. Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin Pharmacol Ther 2007; 81:99-103. This is an excellent overview of genetic disease with nonsense mutations treated by aminoglycosides in vitro and in vivo.
-
Zingman LV, Park S, Olson TM, et al. Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin Pharmacol Ther 2007; 81:99-103. This is an excellent overview of genetic disease with nonsense mutations treated by aminoglycosides in vitro and in vivo.
-
-
-
-
17
-
-
0022423513
-
Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin
-
Burke JF, Mogg AE. Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 1985; 13:6265-6272.
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 6265-6272
-
-
Burke, J.F.1
Mogg, A.E.2
-
18
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003; 349:1433-1441.
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
-
19
-
-
0043092426
-
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
-
Politano L, Nigro G, Nigra V, et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol 2003; 22:15-21.
-
(2003)
Acta Myol
, vol.22
, pp. 15-21
-
-
Politano, L.1
Nigro, G.2
Nigra, V.3
-
20
-
-
27644488290
-
Aminoglycoside suppression of nonsense mutations in severe hemophilia
-
James PD, Raut S, Rivard GE, et al. Aminoglycoside suppression of nonsense mutations in severe hemophilia. Blood 2005; 106:3043-3048.
-
(2005)
Blood
, vol.106
, pp. 3043-3048
-
-
James, P.D.1
Raut, S.2
Rivard, G.E.3
-
21
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
Lai CH, Chun HH, Nahas SA, et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 2004; 101:15676-15681.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
-
22
-
-
33750689865
-
Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations
-
Nudelman I, Rebibo-Sabbah A, Shallom-Shezifi D, et al. Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations. Bioorg Med Chem Lett 2006; 16:6310-6315.
-
(2006)
Bioorg Med Chem Lett
, vol.16
, pp. 6310-6315
-
-
Nudelman, I.1
Rebibo-Sabbah, A.2
Shallom-Shezifi, D.3
-
23
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
This important report identified and characterized a novel translational read-through compound PTC124 that can suppress nonsense mutations of Duchnne muscular dystrophy ex vivo in human and murine. PTC124 demonstrates a new, non-toxic, and bioavailable small-molecule drug for nonsense mutations, which has many implications for other genetic diseases
-
Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447:87-91. This important report identified and characterized a novel translational read-through compound PTC124 that can suppress nonsense mutations of Duchnne muscular dystrophy ex vivo in human and murine. PTC124 demonstrates a new, non-toxic, and bioavailable small-molecule drug for nonsense mutations, which has many implications for other genetic diseases.
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
-
24
-
-
41149111377
-
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
-
Du M, Liu X, Welch EM, et al. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 2008; 105:2064-2069.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2064-2069
-
-
Du, M.1
Liu, X.2
Welch, E.M.3
-
25
-
-
40649123039
-
Rapid screen for truncating ATM mutations by PTT-ELISA
-
Du L, Lai CH, Concannon P, Gatti RA. Rapid screen for truncating ATM mutations by PTT-ELISA. Mutat Res 2008; 640:139-144.
-
(2008)
Mutat Res
, vol.640
, pp. 139-144
-
-
Du, L.1
Lai, C.H.2
Concannon, P.3
Gatti, R.A.4
-
26
-
-
33847360602
-
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
-
This study showed that nonsense-mediated decay was a major molecular mechanism to control patients' response to gentamicin and suggested that manipulation of NMD might be useful clinically
-
Linde L, Boelz S, Nissim-Rafinia M, et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007; 117:683-692. This study showed that nonsense-mediated decay was a major molecular mechanism to control patients' response to gentamicin and suggested that manipulation of NMD might be useful clinically.
-
(2007)
J Clin Invest
, vol.117
, pp. 683-692
-
-
Linde, L.1
Boelz, S.2
Nissim-Rafinia, M.3
-
28
-
-
0038614842
-
Antisense-mediated redirection of mRNA splicing
-
Vacek M, Sazani P, Kole R. Antisense-mediated redirection of mRNA splicing. Cell Mol Life Sci 2003; 60:825-833.
-
(2003)
Cell Mol Life Sci
, vol.60
, pp. 825-833
-
-
Vacek, M.1
Sazani, P.2
Kole, R.3
-
29
-
-
0347988093
-
Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths
-
Eng L, Coutinho G, Nahas S, et al. Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004; 23:67-76.
-
(2004)
Hum Mutat
, vol.23
, pp. 67-76
-
-
Eng, L.1
Coutinho, G.2
Nahas, S.3
-
30
-
-
0032231919
-
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families
-
Burrows NP, Nicholls AC, Richards AJ, et al. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am J Hum Genet 1998; 63:390-398.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 390-398
-
-
Burrows, N.P.1
Nicholls, A.C.2
Richards, A.J.3
-
31
-
-
26244463717
-
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal premRNA splicing in Niemann-Pick type C disease
-
Di Leo E, Panico F, Tarugi P, et al. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal premRNA splicing in Niemann-Pick type C disease. Hum Mutat 2004; 24:440.
-
(2004)
Hum Mutat
, vol.24
, pp. 440
-
-
Di Leo, E.1
Panico, F.2
Tarugi, P.3
-
32
-
-
34347236941
-
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides
-
This study confirmed the ability of antisense oligonucleotides to correct splicing mutations in primary immunodeficiency diseases
-
Du L, Pollard JM, Gatti RA. Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci U S A 2007; 104:6007-6012. This study confirmed the ability of antisense oligonucleotides to correct splicing mutations in primary immunodeficiency diseases.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 6007-6012
-
-
Du, L.1
Pollard, J.M.2
Gatti, R.A.3
-
33
-
-
34547778409
-
Arginine-rich cell-penetrating peptides facilitate delivery of antisense oligomers into murine leukocytes and alter premRNA splicing
-
Marshall NB, Oda SK, London CA, et al. Arginine-rich cell-penetrating peptides facilitate delivery of antisense oligomers into murine leukocytes and alter premRNA splicing. J Immunol Methods 2007; 325:114-126.
-
(2007)
J Immunol Methods
, vol.325
, pp. 114-126
-
-
Marshall, N.B.1
Oda, S.K.2
London, C.A.3
-
34
-
-
34447114618
-
Transvascular delivery of small interfering RNA to the central nervous system
-
This important study shows small RNA can be delivered across the blood-brain barrier to central nervous system with a Rabies virus glycoprotein peptide. This has broad implications to treatment of neurodegenerative genetic diseases
-
Kumar P, Wu H, McBride JL, et al. Transvascular delivery of small interfering RNA to the central nervous system. Nature 2007; 448:39-43. This important study shows small RNA can be delivered across the blood-brain barrier to central nervous system with a Rabies virus glycoprotein peptide. This has broad implications to treatment of neurodegenerative genetic diseases.
-
(2007)
Nature
, vol.448
, pp. 39-43
-
-
Kumar, P.1
Wu, H.2
McBride, J.L.3
-
35
-
-
0344062639
-
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
-
Chun HH, Sun X, Nahas SA, et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab 2003; 80:437-443.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 437-443
-
-
Chun, H.H.1
Sun, X.2
Nahas, S.A.3
-
36
-
-
35348815520
-
Immunodeficiency, radiosensitivity, and the XCIND syndrome
-
Gatti RA, Boder E, Good RA. Immunodeficiency, radiosensitivity, and the XCIND syndrome. Immunol Res 2007; 38:87-101.
-
(2007)
Immunol Res
, vol.38
, pp. 87-101
-
-
Gatti, R.A.1
Boder, E.2
Good, R.A.3
-
37
-
-
18944373328
-
Highly efficient endogenous human gene correction using designed zinc-finger nucleases
-
Urnov FD, Miller JC, Lee YL, et al. Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 2005; 435:646-651.
-
(2005)
Nature
, vol.435
, pp. 646-651
-
-
Urnov, F.D.1
Miller, J.C.2
Lee, Y.L.3
-
38
-
-
34447319080
-
An improved zinc-finger nuclease architecture for highly specific genome editing
-
Miller JC, Holmes MC, Wang J, et al. An improved zinc-finger nuclease architecture for highly specific genome editing. Nat Biotechnol 2007; 25:778-785.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 778-785
-
-
Miller, J.C.1
Holmes, M.C.2
Wang, J.3
-
39
-
-
35948946526
-
Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery
-
Lombardo A, Genovese P, Beausejour CM, et al. Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery. Nat Biotechnol 2007; 25:1298-1306.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 1298-1306
-
-
Lombardo, A.1
Genovese, P.2
Beausejour, C.M.3
-
40
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
This clinical trial illustrated antisense oligonucleotide- mediated exon skipping for correcting frameshift mutations
-
van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357:2677-2686. This clinical trial illustrated antisense oligonucleotide- mediated exon skipping for correcting frameshift mutations.
-
(2007)
N Engl J Med
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
-
41
-
-
0035103770
-
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells
-
Ellis NA, Ciocci S, German J, Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum Genet 2001; 108:167-173.
-
(2001)
Hum Genet
, vol.108
, pp. 167-173
-
-
Ellis, N.A.1
Ciocci, S.2
German, J.3
-
42
-
-
0038665327
-
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
-
Wada T, Konno A, Schurman SH, et al. Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest 2003; 111:1389-1397.
-
(2003)
J Clin Invest
, vol.111
, pp. 1389-1397
-
-
Wada, T.1
Konno, A.2
Schurman, S.H.3
-
43
-
-
24744460541
-
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency
-
Wada T, Toma T, Okamoto H, et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 2005; 106:2099-2101.
-
(2005)
Blood
, vol.106
, pp. 2099-2101
-
-
Wada, T.1
Toma, T.2
Okamoto, H.3
-
44
-
-
34247576595
-
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
-
Kalb R, Neveling K, Hoehn H, et al. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 2007; 80:895-910.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 895-910
-
-
Kalb, R.1
Neveling, K.2
Hoehn, H.3
-
45
-
-
0142209189
-
In vivo reversion to normal of inherited mutations in humans
-
Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet 2003; 40:721-728.
-
(2003)
J Med Genet
, vol.40
, pp. 721-728
-
-
Hirschhorn, R.1
-
46
-
-
24644464284
-
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
-
Pedemonte N, Lukacs GL, Du K, et al. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 2005; 115:2564-2571.
-
(2005)
J Clin Invest
, vol.115
, pp. 2564-2571
-
-
Pedemonte, N.1
Lukacs2
GL, D.K.3
-
48
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
Vogt G, Chapgier A, Yang K, et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005; 37:692-700.
-
(2005)
Nat Genet
, vol.37
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
-
49
-
-
34548730361
-
Novel perspectives on glycosylation and human disease
-
Freeze HH. Novel perspectives on glycosylation and human disease. Curr Mol Med 2007; 7:387.
-
(2007)
Curr Mol Med
, vol.7
, pp. 387
-
-
Freeze, H.H.1
-
50
-
-
38449095231
-
Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides
-
Bertoni C. Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides. Front Biosci 2008; 13:517-527.
-
(2008)
Front Biosci
, vol.13
, pp. 517-527
-
-
Bertoni, C.1
-
51
-
-
33748054317
-
Efficient and persistent splice switching by systemically delivered LNA oligonucleotides in mice
-
Roberts J, Palma E, Sazani P, et al. Efficient and persistent splice switching by systemically delivered LNA oligonucleotides in mice. Mol Ther 2006; 14:471-475.
-
(2006)
Mol Ther
, vol.14
, pp. 471-475
-
-
Roberts, J.1
Palma, E.2
Sazani, P.3
|