-
1
-
-
0023890002
-
Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement
-
Yang T.P., et al. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somat. Cell Mol. Genet. 1988, 14:293-303.
-
(1988)
Somat. Cell Mol. Genet.
, vol.14
, pp. 293-303
-
-
Yang, T.P.1
-
3
-
-
0030975365
-
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
-
Jonkman M.F., et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997, 88:543-551.
-
(1997)
Cell
, vol.88
, pp. 543-551
-
-
Jonkman, M.F.1
-
4
-
-
64749092605
-
Revertant mosaicism - patchwork in the skin
-
Jonkman M.F., Pasmooij A.M. Revertant mosaicism - patchwork in the skin. N. Engl. J. Med. 2009, 360:1680-1682.
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 1680-1682
-
-
Jonkman, M.F.1
Pasmooij, A.M.2
-
5
-
-
39649115848
-
The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006
-
Stewart D.M., et al. The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006. J. Clin. Immunol. 2007, 27:634-639.
-
(2007)
J. Clin. Immunol.
, vol.27
, pp. 634-639
-
-
Stewart, D.M.1
-
6
-
-
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., 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
-
7
-
-
69849106030
-
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome
-
Davis B.R., Candotti F. Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. Immunol. Res. 2009, 44:127-131.
-
(2009)
Immunol. Res.
, vol.44
, pp. 127-131
-
-
Davis, B.R.1
Candotti, F.2
-
8
-
-
0027392943
-
Brief report: reverse mutation in myotonic dystrophy
-
Brunner H.G., et al. Brief report: reverse mutation in myotonic dystrophy. N. Engl. J. Med. 1993, 328:476-480.
-
(1993)
N. Engl. J. Med.
, vol.328
, pp. 476-480
-
-
Brunner, H.G.1
-
9
-
-
27244452774
-
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
-
Pasmooij A.M., et al. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am. J. Hum. Genet. 2005, 77:727-740.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 727-740
-
-
Pasmooij, A.M.1
-
10
-
-
45149097639
-
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome
-
Boztug K., et al. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. Clin. Genet. 2008, 74:68-74.
-
(2008)
Clin. Genet.
, vol.74
, pp. 68-74
-
-
Boztug, K.1
-
11
-
-
46749091756
-
Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome
-
Davis B.R., et al. Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. Blood 2008, 111:5064-5067.
-
(2008)
Blood
, vol.111
, pp. 5064-5067
-
-
Davis, B.R.1
-
12
-
-
33645780233
-
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient
-
Du W., et al. A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. Hum. Mutat. 2006, 27:370-375.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 370-375
-
-
Du, W.1
-
13
-
-
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
-
14
-
-
34548743476
-
Gene conversion: mechanisms, evolution and human disease
-
Chen J.M., et al. Gene conversion: mechanisms, evolution and human disease. Nat. Rev. Genet. 2007, 8:762-775.
-
(2007)
Nat. Rev. Genet.
, vol.8
, pp. 762-775
-
-
Chen, J.M.1
-
15
-
-
0242406998
-
Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
-
Jonkman M.F., et al. Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders. Clin. Exp. Dermatol. 2003, 28:625-631.
-
(2003)
Clin. Exp. Dermatol.
, vol.28
, pp. 625-631
-
-
Jonkman, M.F.1
-
16
-
-
24344487864
-
Revertant mosaicism and retrotransposons: another explanation of " natural gene therapy"
-
Bittar M., Happle R. Revertant mosaicism and retrotransposons: another explanation of " natural gene therapy" Am. J. Med. Genet. A 2005, 137:222.
-
(2005)
Am. J. Med. Genet. A
, vol.137
, pp. 222
-
-
Bittar, M.1
Happle, R.2
-
17
-
-
0035902552
-
Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism
-
Wada T., et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:8697-8702.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 8697-8702
-
-
Wada, T.1
-
19
-
-
0036642103
-
Metastable epialleles in mammals
-
Rakyan V.K., et al. Metastable epialleles in mammals. Trends Genet. 2002, 18:348-351.
-
(2002)
Trends Genet.
, vol.18
, pp. 348-351
-
-
Rakyan, V.K.1
-
20
-
-
0035065510
-
Retrotransposons as epigenetic mediators of phenotypic variation in mammals
-
Whitelaw E., Martin D.I. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat. Genet. 2001, 27:361-365.
-
(2001)
Nat. Genet.
, vol.27
, pp. 361-365
-
-
Whitelaw, E.1
Martin, D.I.2
-
21
-
-
77649234621
-
Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants
-
Davis B.R., et al. Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants. Clin. Immunol. 2010, 135:72-83.
-
(2010)
Clin. Immunol.
, vol.135
, pp. 72-83
-
-
Davis, B.R.1
-
22
-
-
38449104250
-
Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient
-
Boztug K., et al. Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient. Haematologica 2007, 92:e43-e45.
-
(2007)
Haematologica
, vol.92
-
-
Boztug, K.1
-
23
-
-
27144520521
-
Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome
-
Lutskiy M.I., et al. Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome. Blood 2005, 106:2815-2817.
-
(2005)
Blood
, vol.106
, pp. 2815-2817
-
-
Lutskiy, M.I.1
-
24
-
-
75849163775
-
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs
-
e438
-
Trifari S., et al. Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs. J. Allergy Clin. Immunol. 2010, 125:439-448. e438.
-
(2010)
J. Allergy Clin. Immunol.
, vol.125
, pp. 439-448
-
-
Trifari, S.1
-
25
-
-
0038665327
-
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
-
Wada T., 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
-
26
-
-
4444267906
-
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family
-
Wada T., et al. Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Blood 2004, 104:1270-1272.
-
(2004)
Blood
, vol.104
, pp. 1270-1272
-
-
Wada, T.1
-
27
-
-
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., 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
-
28
-
-
0036464720
-
Adenosine deaminase deficiency with mosaicism for a " second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy
-
Arredondo-Vega F.X., et al. Adenosine deaminase deficiency with mosaicism for a " second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood 2002, 99:1005-1013.
-
(2002)
Blood
, vol.99
, pp. 1005-1013
-
-
Arredondo-Vega, F.X.1
-
29
-
-
0029902033
-
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
-
Hirschhorn R., et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 1996, 13:290-295.
-
(1996)
Nat. Genet.
, vol.13
, pp. 290-295
-
-
Hirschhorn, R.1
-
30
-
-
10544244162
-
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
-
Stephan V., et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 1996, 335:1563-1567.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1563-1567
-
-
Stephan, V.1
-
31
-
-
2942627117
-
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
-
Nishikomori R., et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 2004, 103:4565-4572.
-
(2004)
Blood
, vol.103
, pp. 4565-4572
-
-
Nishikomori, R.1
-
32
-
-
33646378182
-
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency
-
Rieux-Laucat F., et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N. Engl. J. Med. 2006, 354:1913-1921.
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1913-1921
-
-
Rieux-Laucat, F.1
-
33
-
-
33846852867
-
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1
-
Tone Y., et al. Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood 2007, 109:1182-1184.
-
(2007)
Blood
, vol.109
, pp. 1182-1184
-
-
Tone, Y.1
-
34
-
-
38049139199
-
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)
-
Uzel G., et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood 2008, 111:209-218.
-
(2008)
Blood
, vol.111
, pp. 209-218
-
-
Uzel, G.1
-
35
-
-
52649102919
-
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome
-
Wada T., et al. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood 2008, 112:1872-1875.
-
(2008)
Blood
, vol.112
, pp. 1872-1875
-
-
Wada, T.1
-
36
-
-
33644922056
-
Myeloid lineage-selective growth of revertant cells in Fanconi anaemia
-
Hamanoue S., et al. Myeloid lineage-selective growth of revertant cells in Fanconi anaemia. Br. J. Haematol. 2006, 132:630-635.
-
(2006)
Br. J. Haematol.
, vol.132
, pp. 630-635
-
-
Hamanoue, S.1
-
37
-
-
0035504318
-
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging
-
Gache Y., et al. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum. Mol. Genet. 2001, 10:2453-2461.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2453-2461
-
-
Gache, Y.1
-
38
-
-
0032836379
-
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations
-
McGrath J.A., et al. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. J. Invest. Dermatol. 1999, 113:314-321.
-
(1999)
J. Invest. Dermatol.
, vol.113
, pp. 314-321
-
-
McGrath, J.A.1
-
39
-
-
1342305376
-
A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
-
Pasmooij A.M., et al. A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain. Exp. Dermatol. 2004, 13:125-128.
-
(2004)
Exp. Dermatol.
, vol.13
, pp. 125-128
-
-
Pasmooij, A.M.1
-
40
-
-
0035132809
-
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
-
Ruzzi L., et al. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J. Invest. Dermatol. 2001, 116:182-187.
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 182-187
-
-
Ruzzi, L.1
-
41
-
-
43449084027
-
The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB
-
Fine J.D., et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol. 2008, 58:931-950.
-
(2008)
J. Am. Acad. Dermatol.
, vol.58
, pp. 931-950
-
-
Fine, J.D.1
-
42
-
-
0029121987
-
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
-
McGrath J.A., et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat. Genet. 1995, 11:83-86.
-
(1995)
Nat. Genet.
, vol.11
, pp. 83-86
-
-
McGrath, J.A.1
-
43
-
-
34248169121
-
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
-
Pasmooij A.M., et al. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J. Clin. Invest. 2007, 117:1240-1248.
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 1240-1248
-
-
Pasmooij, A.M.1
-
44
-
-
77953613240
-
Revertant mosaicism in recessive dystrophic epidermolysis bullosa
-
Almaani N., et al. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J. Invest. Dermatol. 2010, 130:1937-1940.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 1937-1940
-
-
Almaani, N.1
-
45
-
-
77956870608
-
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
-
Pasmooij A.M., et al. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J. Invest. Dermatol. 2010, 130:2407-2411.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 2407-2411
-
-
Pasmooij, A.M.1
-
46
-
-
1642452814
-
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex
-
Smith F.J., et al. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J. Invest. Dermatol. 2004, 122:73-77.
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 73-77
-
-
Smith, F.J.1
-
47
-
-
77957371828
-
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10
-
Choate K.A., et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010, 330:94-97.
-
(2010)
Science
, vol.330
, pp. 94-97
-
-
Choate, K.A.1
-
48
-
-
0028013404
-
A case of congenital reticular ichthyosiform erythroderma - ichthyosis 'en confettis'
-
Brusasco A., et al. A case of congenital reticular ichthyosiform erythroderma - ichthyosis 'en confettis'. Dermatology 1994, 188:40-45.
-
(1994)
Dermatology
, vol.188
, pp. 40-45
-
-
Brusasco, A.1
-
49
-
-
0036226320
-
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
-
Schuilenga-Hut P.H., et al. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J. Invest. Dermatol. 2002, 118:626-630.
-
(2002)
J. Invest. Dermatol.
, vol.118
, pp. 626-630
-
-
Schuilenga-Hut, P.H.1
-
50
-
-
0032740890
-
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
-
Darling T.N., et al. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J. Clin. Invest. 1999, 103:1371-1377.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 1371-1377
-
-
Darling, T.N.1
-
51
-
-
33845524625
-
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
-
Mavilio F., et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med. 2006, 12:1397-1402.
-
(2006)
Nat. Med.
, vol.12
, pp. 1397-1402
-
-
Mavilio, F.1
-
52
-
-
0037443457
-
Side effects of retroviral gene transfer into hematopoietic stem cells
-
Baum C., et al. Side effects of retroviral gene transfer into hematopoietic stem cells. Blood 2003, 101:2099-2114.
-
(2003)
Blood
, vol.101
, pp. 2099-2114
-
-
Baum, C.1
-
53
-
-
1542319138
-
The future of gene therapy
-
Cavazzana-Calvo M., et al. The future of gene therapy. Nature 2004, 427:779-781.
-
(2004)
Nature
, vol.427
, pp. 779-781
-
-
Cavazzana-Calvo, M.1
-
54
-
-
33646887376
-
Genotoxicity of retroviral integration in hematopoietic cells
-
Nienhuis A.W., et al. Genotoxicity of retroviral integration in hematopoietic cells. Mol. Ther. 2006, 13:1031-1049.
-
(2006)
Mol. Ther.
, vol.13
, pp. 1031-1049
-
-
Nienhuis, A.W.1
-
55
-
-
69949112900
-
Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy
-
Gostynski A., et al. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br. J. Dermatol. 2009, 161:444-447.
-
(2009)
Br. J. Dermatol.
, vol.161
, pp. 444-447
-
-
Gostynski, A.1
-
56
-
-
3042723173
-
Kindler syndrome: two additional features
-
Al Aboud K., et al. Kindler syndrome: two additional features. Dermatol. Online J. 2003, 9:20.
-
(2003)
Dermatol. Online J.
, vol.9
, pp. 20
-
-
Al Aboud, K.1
|