-
1
-
-
0031939175
-
The Wiskott-Aldrich syndrome
-
Ochs, H.D. 1998. The Wiskott-Aldrich syndrome. Springer Semin. Immunopathol. 19:435-458.
-
(1998)
Springer Semin. Immunopathol.
, vol.19
, pp. 435-458
-
-
Ochs, H.D.1
-
2
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
-
Derry, J.M., Ochs, H.D., and Francke, U. 1994. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 78:635-644.
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.1
Ochs, H.D.2
Francke, U.3
-
3
-
-
0029982620
-
Studies of the expression of the Wiskott-Aldrich syndrome protein
-
Stewart, D.M., et al. 1996. Studies of the expression of the Wiskott-Aldrich syndrome protein. J. Clin. Invest. 97:2627-2634.
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 2627-2634
-
-
Stewart, D.M.1
-
4
-
-
0030612470
-
Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation
-
Parolini, O., et al. 1997. Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. Blood. 90:70-75.
-
(1997)
Blood
, vol.90
, pp. 70-75
-
-
Parolini, O.1
-
5
-
-
0033012399
-
The Wiskott-Aldrich syndrome protein (WASP): Roles in signaling and cytoskeletal organization
-
Snapper, S.B., and Rosen, F.S. 1999. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu. Rev. Immunol. 17:905-929.
-
(1999)
Annu. Rev. Immunol.
, vol.17
, pp. 905-929
-
-
Snapper, S.B.1
Rosen, F.S.2
-
6
-
-
0028146998
-
Self-induced correction of the generic defect in tyrosinemia type I
-
Kvittingen, E.A., Rootwelt, H., Berger, R., and Brandtzaeg, P. 1994. Self-induced correction of the generic defect in tyrosinemia type I. J. Clin. Invest. 94:1657-1661.
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 1657-1661
-
-
Kvittingen, E.A.1
Rootwelt, H.2
Berger, R.3
Brandtzaeg, P.4
-
7
-
-
0028859379
-
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells
-
Ellis, N.A., et al. 1995. Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am. J. Hum. Genet. 57:1019-1027.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1019-1027
-
-
Ellis, N.A.1
-
8
-
-
10544244162
-
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
-
Stephan, V., et al. 1996. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl J. Med. 335:1563-1567.
-
(1996)
N. Engl J. Med.
, vol.335
, pp. 1563-1567
-
-
Stephan, V.1
-
9
-
-
0030975365
-
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
-
Jonkman, M.F., et al. 1997. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell. 88:543-551.
-
(1997)
Cell
, vol.88
, pp. 543-551
-
-
Jonkman, M.F.1
-
10
-
-
12644293813
-
Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance
-
Lo Ten Foe, J.R., et al. 1997. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet. 5:137-148.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 137-148
-
-
Lo Ten Foe, J.R.1
-
11
-
-
0035956959
-
Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
-
Gregory, J.J., Jr., et al. 2001. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc. Natl. Acad. Sci. U. S. A. 98:2532-2537.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 2532-2537
-
-
Gregory J.J., Jr.1
-
12
-
-
0029902033
-
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
-
Hirschhorn, R., et al. 1996. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13:290-295.
-
(1996)
Nat. Genet.
, vol.13
, pp. 290-295
-
-
Hirschhorn, R.1
-
13
-
-
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., et al. 2001. 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. 97:2896-2899.
-
(2001)
Blood
, vol.97
, pp. 2896-2899
-
-
Ariga, T.1
-
14
-
-
0035871629
-
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome
-
Ariga, T., et al. 2001. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J. Immunol. 166:5245-5249.
-
(2001)
J. Immunol.
, vol.166
, pp. 5245-5249
-
-
Ariga, T.1
-
15
-
-
0035902552
-
Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism
-
Wada, T., et al. 2001. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc. Natl. Acad. Sci. U. S. A. 98:8697-8702.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 8697-8702
-
-
Wada, T.1
-
16
-
-
0032740890
-
Revertant mosaicism: Partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
-
Darling, T.N., Yee, C., Bauer, J.W., Hintner, H., and Yancey, K.B. 1999. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J. Clin. Invest. 103:1371-1377.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 1371-1377
-
-
Darling, T.N.1
Yee, C.2
Bauer, J.W.3
Hintner, H.4
Yancey, K.B.5
-
17
-
-
0032796554
-
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
-
Waisfisz, Q., et al. 1999. Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat. Genet. 22:379-383.
-
(1999)
Nat. Genet.
, vol.22
, pp. 379-383
-
-
Waisfisz, Q.1
-
18
-
-
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. 2002. Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood. 99:1005-1013.
-
(2002)
Blood
, vol.99
, pp. 1005-1013
-
-
Arredondo-Vega, F.X.1
-
19
-
-
0023256559
-
Slipped-strand mispairing: A major mechanism for DNA sequence evolution
-
Levinson, G., and Gutman, G.A. 1987. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol. Biol. Evol. 4:203-221.
-
(1987)
Mol. Biol. Evol.
, vol.4
, pp. 203-221
-
-
Levinson, G.1
Gutman, G.A.2
-
20
-
-
0028914882
-
Deletion and insertion mutations in short tandem repeats in the coding regions of human genes
-
Darvasi, A., and Kerem, B. 1995. Deletion and insertion mutations in short tandem repeats in the coding regions of human genes. Eur. J. Hum. Genet. 3:14-20.
-
(1995)
Eur. J. Hum. Genet.
, vol.3
, pp. 14-20
-
-
Darvasi, A.1
Kerem, B.2
-
21
-
-
0030996733
-
A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene
-
Oron-Karni, V., Filon, D., Rund, D., and Oppenheim, A. 1997. A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene. Hum. Mol. Genet. 6:881-885.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 881-885
-
-
Oron-Karni, V.1
Filon, D.2
Rund, D.3
Oppenheim, A.4
-
22
-
-
0035902443
-
Instability of repetitive DNA sequences: The role of replication in multiple mechanisms
-
Bzymek, M., and Lovett, S.T. 2001. Instability of repetitive DNA sequences: the role of replication in multiple mechanisms. Proc. Natl. Acad. Sci. U. S. A. 98:8319-8325.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 8319-8325
-
-
Bzymek, M.1
Lovett, S.T.2
-
23
-
-
0032102835
-
Trinucleotide repeat DNA structures: Dynamic mutations from dynamic DNA
-
Pearson, C.E., and Sinden, R.R. 1998. Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA. Curr. Opin. Struct. Biol. 8:321-330.
-
(1998)
Curr. Opin. Struct. Biol.
, vol.8
, pp. 321-330
-
-
Pearson, C.E.1
Sinden, R.R.2
-
24
-
-
0028786330
-
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene
-
Zhu, Q., et al. 1995. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood. 86:3797-3804.
-
(1995)
Blood
, vol.86
, pp. 3797-3804
-
-
Zhu, Q.1
-
25
-
-
0036291823
-
Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T cell dysfunction
-
Wada, T., Jagadeesh, G.J., Nelson, D.L., and Candotti, F. 2002. Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T cell dysfunction. Hum. Gene Ther. 13:1039-1046.
-
(2002)
Hum. Gene Ther.
, vol.13
, pp. 1039-1046
-
-
Wada, T.1
Jagadeesh, G.J.2
Nelson, D.L.3
Candotti, F.4
-
26
-
-
0032982479
-
Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations
-
Candotti, F., et al. 1999. Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations. Gene Ther. 6:1170-1174.
-
(1999)
Gene Ther.
, vol.6
, pp. 1170-1174
-
-
Candotti, F.1
-
27
-
-
0030729823
-
Structural and functional basis for JAK3-deficient severe combined immunodeficieney
-
Candotti, F., et al. 1997. Structural and functional basis for JAK3-deficient severe combined immunodeficieney. Blood. 90:3996-4003.
-
(1997)
Blood
, vol.90
, pp. 3996-4003
-
-
Candotti, F.1
-
28
-
-
0034661943
-
High detection rate of T-cell receptor beta chain rearrangements in T-cell lymphoproliferations by family specific polymerase chain reaction in combination with the GeneScan technique and DNA sequencing
-
Assaf, C., et al. 2000. High detection rate of T-cell receptor beta chain rearrangements in T-cell lymphoproliferations by family specific polymerase chain reaction in combination with the GeneScan technique and DNA sequencing. Blood. 96:640-646.
-
(2000)
Blood
, vol.96
, pp. 640-646
-
-
Assaf, C.1
-
29
-
-
0025834275
-
Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus
-
Miller, A.D., et al. 1991. Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus. J. Virol. 65:2220-2224.
-
(1991)
J. Virol.
, vol.65
, pp. 2220-2224
-
-
Miller, A.D.1
-
30
-
-
0028813149
-
Interleukin-2-transduced lymphocytes grow in an autocrine fashion and remain responsive to antigen
-
Treisman, J., et al. 1995. Interleukin-2-transduced lymphocytes grow in an autocrine fashion and remain responsive to antigen. Blood. 85:139-145.
-
(1995)
Blood
, vol.85
, pp. 139-145
-
-
Treisman, J.1
-
31
-
-
0031888260
-
Development of improved adenosine deaminase retroviral vectors
-
Onodera, M., et al. 1998. Development of improved adenosine deaminase retroviral vectors. J. Virol. 72:1769-1774.
-
(1998)
J. Virol.
, vol.72
, pp. 1769-1774
-
-
Onodera, M.1
-
32
-
-
0029078212
-
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
-
Kolluri, R., et al. 1995. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum. Mol. Genet. 4:1119-1126.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1119-1126
-
-
Kolluri, R.1
-
33
-
-
0027770901
-
Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: Evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit
-
Mantuano, E., et al. 1993. Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit. Immunodeficiency. 4:271-276.
-
(1993)
Immunodeficiency
, vol.4
, pp. 271-276
-
-
Mantuano, E.1
-
34
-
-
0028932527
-
Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome
-
Wengler, G., Gorlin, J.B., Williamson, J.M., Rosen, F.S., and Bing, D.H. 1995. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood. 85:2471-2477.
-
(1995)
Blood
, vol.85
, pp. 2471-2477
-
-
Wengler, G.1
Gorlin, J.B.2
Williamson, J.M.3
Rosen, F.S.4
Bing, D.H.5
-
35
-
-
0023791121
-
Carrier detection in the Wiskott-Aldrich syndrome
-
Fearon, E.R., Kohn, D.B., Winkelstein, J.A., Vogelstein, B., and Blaese, R.M. 1988. Carrier detection in the Wiskott-Aldrich syndrome. Blood. 72:1735-1739.
-
(1988)
Blood
, vol.72
, pp. 1735-1739
-
-
Fearon, E.R.1
Kohn, D.B.2
Winkelstein, J.A.3
Vogelstein, B.4
Blaese, R.M.5
-
36
-
-
0024567430
-
X-chromosome inactivation in the Wiskott-Aldrich syndrome: A marker for detection of the carrier state and identification of cell lineages expressing the gene defect
-
Greer, W.L., et al. 1989. X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect. Genomics. 4:60-67.
-
(1989)
Genomics
, vol.4
, pp. 60-67
-
-
Greer, W.L.1
-
37
-
-
0034624753
-
Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein
-
Kim, A.S., Kakalis, L.T., Abdul-Manan, N., Liu, G.A., and Rosen, M.K. 2000. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature. 404:151-158.
-
(2000)
Nature
, vol.404
, pp. 151-158
-
-
Kim, A.S.1
Kakalis, L.T.2
Abdul-Manan, N.3
Liu, G.A.4
Rosen, M.K.5
-
38
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neurropenia
-
Devriendt, K.J., et al. 2001. Constitutively activating mutation in WASP causes X-linked severe congenital neurropenia. Nat. Genet. 27:313-317.
-
(2001)
Nat. Genet.
, vol.27
, pp. 313-317
-
-
Devriendt, K.J.1
|