-
1
-
-
80054047383
-
The role of MeCP2 in the brain
-
J. Guy, H. Cheval, J. Selfridge, A. Bird, The role of MeCP2 in the brain. Annu. Rev. Cell Dev. Biol. 27, 631-652 (2011).
-
(2011)
Annu. Rev. Cell Dev. Biol.
, vol.27
, pp. 631-652
-
-
Guy, J.1
Cheval, H.2
Selfridge, J.3
Bird, A.4
-
2
-
-
0033066987
-
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28
-
H. Lubs, F. Abidi, J. A. Bier, D. Abuelo, L. Ouzts, K. Voeller, E. Fennell, R. E. Stevenson, C. E. Schwartz, F. Arena, XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am. J. Med. Genet. 85, 243-248 (1999).
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 243-248
-
-
Lubs, H.1
Abidi, F.2
Bier, J.A.3
Abuelo, D.4
Ouzts, L.5
Voeller, K.6
Fennell, E.7
Stevenson, R.E.8
Schwartz, C.E.9
Arena, F.10
-
4
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
H. Van Esch, M. Bauters, J. Ignatius, M. Jansen, M. Raynaud, K. Hollanders, D. Lugtenberg, T. Bienvenu, L. R. Jensen, J. Gecz, C. Moraine, P.Marynen, J. P. Fryns, G. Froyen, Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77, 442-453 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
Hollanders, K.6
Lugtenberg, D.7
Bienvenu, T.8
Jensen, L.R.9
Gecz, J.10
Moraine, C.11
Marynen, P.12
Fryns, J.P.13
Froyen, G.14
-
5
-
-
66149120624
-
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
-
C. M. Carvalho, F. Zhang, P. Liu, A. Patel, T. Sahoo, C. A. Bacino, C. Shaw, S. Peacock, A. Pursley, Y. J. Tavyev, M. B. Ramocki, M. Nawara, E. Obersztyn, A. M. Vianna-Morgante, P. Stankiewicz, H. Y. Zoghbi, S. W. Cheung, J. R. Lupski, Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum. Mol. Genet. 18, 2188-2203 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2188-2203
-
-
Carvalho, C.M.1
Zhang, F.2
Liu, P.3
Patel, A.4
Sahoo, T.5
Bacino, C.A.6
Shaw, C.7
Peacock, S.8
Pursley, A.9
Tavyev, Y.J.10
Ramocki, M.B.11
Nawara, M.12
Obersztyn, E.13
Vianna-Morgante, A.M.14
Stankiewicz, P.15
Zoghbi, H.Y.16
Cheung, S.W.17
Lupski, J.R.18
-
6
-
-
33749081269
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
-
D. del Gaudio, P. Fang, F. Scaglia, P. A. Ward, W. J. Craigen, D. G. Glaze, J. L. Neul, A. Patel, J. A. Lee, M. Irons, S. A. Berry, A. A. Pursley, T. A. Grebe, D. Freedenberg, R. A. Martin, G. E. Hsich, J. R. Khera, N. R. Friedman, H. Y. Zoghbi, C. M. Eng, J. R. Lupski, A. L. Beaudet, S. W. Cheung, B. B. Roa, Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 8, 784-792 (2006).
-
(2006)
Genet. Med.
, vol.8
, pp. 784-792
-
-
Del Gaudio, D.1
Fang, P.2
Scaglia, F.3
Ward, P.A.4
Craigen, W.J.5
Glaze, D.G.6
Neul, J.L.7
Patel, A.8
Lee, J.A.9
Irons, M.10
Berry, S.A.11
Pursley, A.A.12
Grebe, T.A.13
Freedenberg, D.14
Martin, R.A.15
Hsich, G.E.16
Khera, J.R.17
Friedman, N.R.18
Zoghbi, H.Y.19
Eng, C.M.20
Lupski, J.R.21
Beaudet, A.L.22
Cheung, S.W.23
Roa, B.B.24
more..
-
7
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
A. L. Collins, J. M. Levenson, A. P. Vilaythong, R. Richman, D. L. Armstrong, J. L. Noebels, J. David Sweatt, H. Y. Zoghbi, Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 13, 2679-2689 (2004).
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
Richman, R.4
Armstrong, D.L.5
Noebels, J.L.6
David Sweatt, J.7
Zoghbi, H.Y.8
-
8
-
-
80055003130
-
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
-
C. M. Carvalho, M. B. Ramocki, D. Pehlivan, L. M. Franco, C. Gonzaga-Jauregui, P. Fang, A. McCall, E. K. Pivnick, S. Hines-Dowell, L. H. Seaver, L. Friehling, S. Lee, R. Smith, D. Del Gaudio, M.Withers, P. Liu, S. W. Cheung, J. W. Belmont, H. Y. Zoghbi, P. J. Hastings, J. R. Lupski, Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat. Genet. 43, 1074-1081 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 1074-1081
-
-
Carvalho, C.M.1
Ramocki, M.B.2
Pehlivan, D.3
Franco, L.M.4
Gonzaga-Jauregui, C.5
Fang, P.6
McCall, A.7
Pivnick, E.K.8
Hines-Dowell, S.9
Seaver, L.H.10
Friehling, L.11
Lee, S.12
Smith, R.13
Del Gaudio, D.14
Withers, M.15
Liu, P.16
Cheung, S.W.17
Belmont, J.W.18
Zoghbi, H.Y.19
Hastings, P.J.20
Lupski, J.R.21
more..
-
9
-
-
33845772985
-
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
-
M. J. Friez, J. R. Jones, K. Clarkson, H. Lubs, D. Abuelo, J. A. Bier, S. Pai, R. Simensen, C. Williams, P. F. Giampietro, C. E. Schwartz, R. E. Stevenson, Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118, e1687-e1695 (2006).
-
(2006)
Pediatrics
, vol.118
-
-
Friez, M.J.1
Jones, J.R.2
Clarkson, K.3
Lubs, H.4
Abuelo, D.5
Bier, J.A.6
Pai, S.7
Simensen, R.8
Williams, C.9
Giampietro, P.F.10
Schwartz, C.E.11
Stevenson, R.E.12
-
10
-
-
84857356538
-
MECP2 triplication in 3 brothers - A rarely described cause of familial neurological regression in boys
-
S. S. Tang, D. Fernandez, L. P. Lazarou, R. Singh, P. Fallon, MECP2 triplication in 3 brothers - A rarely described cause of familial neurological regression in boys. Eur. J. Paediatr. Neurol. 16, 209-212 (2012).
-
(2012)
Eur. J. Paediatr. Neurol.
, vol.16
, pp. 209-212
-
-
Tang, S.S.1
Fernandez, D.2
Lazarou, L.P.3
Singh, R.4
Fallon, P.5
-
11
-
-
37549002500
-
IRAK1: A critical signaling mediator of innate immunity
-
S. Gottipati, N. L. Rao, W. P. Fung-Leung, IRAK1: A critical signaling mediator of innate immunity. Cell. Signal. 20, 269-276 (2008).
-
(2008)
Cell. Signal.
, vol.20
, pp. 269-276
-
-
Gottipati, S.1
Rao, N.L.2
Fung-Leung, W.P.3
-
12
-
-
80052026067
-
Essential role for the prolyl isomerase Pin1 in Toll-like receptor signaling and type I interferon-mediated immunity
-
A. Tun-Kyi, G. Finn, A. Greenwood, M. Nowak, T. H. Lee, J. M. Asara, G. C. Tsokos, K. Fitzgerald, E. Israel, X. Li, M. Exley, L. K. Nicholson, K. P. Lu, Essential role for the prolyl isomerase Pin1 in Toll-like receptor signaling and type I interferon-mediated immunity. Nat. Immunol. 12, 733-741 (2011).
-
(2011)
Nat. Immunol.
, vol.12
, pp. 733-741
-
-
Tun-Kyi, A.1
Finn, G.2
Greenwood, A.3
Nowak, M.4
Lee, T.H.5
Asara, J.M.6
Tsokos, G.C.7
Fitzgerald, K.8
Israel, E.9
Li, X.10
Exley, M.11
Nicholson, L.K.12
Lu, K.P.13
-
13
-
-
0347297142
-
IL-1 receptor-associated kinase 1 regulates susceptibility to organ-specific autoimmunity
-
C. Deng, C. Radu, A. Diab, M. F. Tsen, R. Hussain, J. S. Cowdery, M. K. Racke, J. A. Thomas, IL-1 receptor-associated kinase 1 regulates susceptibility to organ-specific autoimmunity. J. Immunol. 170, 2833-2842 (2003).
-
(2003)
J. Immunol.
, vol.170
, pp. 2833-2842
-
-
Deng, C.1
Radu, C.2
Diab, A.3
Tsen, M.F.4
Hussain, R.5
Cowdery, J.S.6
Racke, M.K.7
Thomas, J.A.8
-
14
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- And cell-specific differences and correlate with neuronal maturation
-
M. D. Shahbazian, B. Antalffy, D. L. Armstrong, H. Y. Zoghbi, Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet. 11, 115-124 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 115-124
-
-
Shahbazian, M.D.1
Antalffy, B.2
Armstrong, D.L.3
Zoghbi, H.Y.4
-
15
-
-
55949104585
-
The MBD protein family - Reading an epigenetic mark?
-
A. Dhasarathy, P. A. Wade, The MBD protein family - Reading an epigenetic mark? Mutat. Res. 647, 39-43 (2008).
-
(2008)
Mutat. Res.
, vol.647
, pp. 39-43
-
-
Dhasarathy, A.1
Wade, P.A.2
-
16
-
-
79958846467
-
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
-
J. C. de Greef, J. Wang, J. Balog, J. T. den Dunnen, R. R. Frants, K. R. Straasheijm, C. Aytekin, M. van der Burg, L. Duprez, A. Ferster, A. R. Gennery, G. Gimelli, I. Reisli, C. Schuetz, A. Schulz, D. F. Smeets, Y. Sznajer, C. Wijmenga, M. C. van Eggermond, M. M. van Ostaijen-Ten Dam, A. C. Lankester, M. J. van Tol, P. J. van den Elsen, C. M. Weemaes, S. M. van der Maarel, Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am. J. Hum. Genet. 88, 796-804 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 796-804
-
-
De Greef, J.C.1
Wang, J.2
Balog, J.3
Den Dunnen, J.T.4
Frants, R.R.5
Straasheijm, K.R.6
Aytekin, C.7
Van Der Burg, M.8
Duprez, L.9
Ferster, A.10
Gennery, A.R.11
Gimelli, G.12
Reisli, I.13
Schuetz, C.14
Schulz, A.15
Smeets, D.F.16
Sznajer, Y.17
Wijmenga, C.18
Van Eggermond, M.C.19
Van Ostaijen-Ten Dam, M.M.20
Lankester, A.C.21
Van Tol, M.J.22
Van Den Elsen, P.J.23
Weemaes, C.M.24
Van Der Maarel, S.M.25
more..
-
17
-
-
84856286525
-
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
-
R. C. Samaco, C. Mandel-Brehm, C. M. McGraw, C. A. Shaw, B. E. McGill, H. Y. Zoghbi, Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat. Genet. 44, 206-211 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 206-211
-
-
Samaco, R.C.1
Mandel-Brehm, C.2
McGraw, C.M.3
Shaw, C.A.4
McGill, B.E.5
Zoghbi, H.Y.6
-
18
-
-
0028933795
-
The regulation of immunity to Leishmania major
-
S. L. Reiner, R. M. Locksley, The regulation of immunity to Leishmania major. Annu. Rev. Immunol. 13, 151-177 (1995).
-
(1995)
Annu. Rev. Immunol.
, vol.13
, pp. 151-177
-
-
Reiner, S.L.1
Locksley, R.M.2
-
19
-
-
0023733838
-
Regulation of antibody isotype secretion by subsets of antigen-specific helper T cells
-
T. L. Stevens, A. Bossie, V. M. Sanders, R. Fernandez-Botran, R. L. Coffman, T. R. Mosmann, E. S. Vitetta, Regulation of antibody isotype secretion by subsets of antigen-specific helper T cells. Nature 334, 255-258 (1988).
-
(1988)
Nature
, vol.334
, pp. 255-258
-
-
Stevens, T.L.1
Bossie, A.2
Sanders, V.M.3
Fernandez-Botran, R.4
Coffman, R.L.5
Mosmann, T.R.6
Vitetta, E.S.7
-
20
-
-
22544451204
-
A novel splice variant of interleukin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling
-
N. Rao, S. Nguyen, K. Ngo, W. P. Fung-Leung, A novel splice variant of interleukin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling. Mol. Cell. Biol. 25, 6521-6532 (2005).
-
(2005)
Mol. Cell. Biol.
, vol.25
, pp. 6521-6532
-
-
Rao, N.1
Nguyen, S.2
Ngo, K.3
Fung-Leung, W.P.4
-
21
-
-
13844320399
-
T-bet antagonizes mSin3a recruitment and transactivates a fully methylated IFN-g promoter via a conserved T-box half-site
-
Y. Tong, T. Aune, M. Boothby, T-bet antagonizes mSin3a recruitment and transactivates a fully methylated IFN-g promoter via a conserved T-box half-site. Proc. Natl. Acad. Sci. U.S.A. 102, 2034-2039 (2005).
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 2034-2039
-
-
Tong, Y.1
Aune, T.2
Boothby, M.3
-
22
-
-
0034677646
-
A novel transcription factor, T-bet, directs Th1 lineage commitment
-
S. J. Szabo, S. T. Kim, G. L. Costa, X. Zhang, C. G. Fathman, L. H. Glimcher, A novel transcription factor, T-bet, directs Th1 lineage commitment. Cell 100, 655-669 (2000).
-
(2000)
Cell
, vol.100
, pp. 655-669
-
-
Szabo, S.J.1
Kim, S.T.2
Costa, G.L.3
Zhang, X.4
Fathman, C.G.5
Glimcher, L.H.6
-
23
-
-
33745753087
-
Inhibition of IFN-g transcription by site-specific methylation during T helper cell development
-
B. Jones, J. Chen, Inhibition of IFN-g transcription by site-specific methylation during T helper cell development. EMBO J. 25, 2443-2452 (2006).
-
(2006)
EMBO J.
, vol.25
, pp. 2443-2452
-
-
Jones, B.1
Chen, J.2
-
24
-
-
34447536953
-
Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein, MeCP2
-
V. H. Adams, S. J. McBryant, P. A. Wade, C. L. Woodcock, J. C. Hansen, Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein, MeCP2. J. Biol. Chem. 282, 15057-15064 (2007).
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 15057-15064
-
-
Adams, V.H.1
McBryant, S.J.2
Wade, P.A.3
Woodcock, C.L.4
Hansen, J.C.5
-
25
-
-
0026658662
-
Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA
-
R. R. Meehan, J. D. Lewis, A. P. Bird, Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res. 20, 5085-5092 (1992).
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 5085-5092
-
-
Meehan, R.R.1
Lewis, J.D.2
Bird, A.P.3
-
26
-
-
0042357071
-
Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation
-
P. T. Georgel, R. A. Horowitz-Scherer, N. Adkins, C. L. Woodcock, P. A. Wade, J. C. Hansen, Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J. Biol. Chem. 278, 32181-32188 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 32181-32188
-
-
Georgel, P.T.1
Horowitz-Scherer, R.A.2
Adkins, N.3
Woodcock, C.L.4
Wade, P.A.5
Hansen, J.C.6
-
27
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
M. Chahrour, S. Y. Jung, C. Shaw, X. Zhou, S. T. Wong, J. Qin, H. Y. Zoghbi, MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320, 1224-1229 (2008).
-
(2008)
Science
, vol.320
, pp. 1224-1229
-
-
Chahrour, M.1
Jung, S.Y.2
Shaw, C.3
Zhou, X.4
Wong, S.T.5
Qin, J.6
Zoghbi, H.Y.7
-
28
-
-
80053579176
-
Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function
-
S. Cohen, H. W. Gabel, M. Hemberg, A. N. Hutchinson, L. A. Sadacca, D. H. Ebert, D. A. Harmin, R. S. Greenberg, V. K. Verdine, Z. Zhou, W. C. Wetsel, A. E. West, M. E. Greenberg, Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron 72, 72-85 (2011).
-
(2011)
Neuron
, vol.72
, pp. 72-85
-
-
Cohen, S.1
Gabel, H.W.2
Hemberg, M.3
Hutchinson, A.N.4
Sadacca, L.A.5
Ebert, D.H.6
Harmin, D.A.7
Greenberg, R.S.8
Verdine, V.K.9
Zhou, Z.10
Wetsel, W.C.11
West, A.E.12
Greenberg, M.E.13
-
29
-
-
58849088509
-
T-bet dependent removal of Sin3A-histone deacetylase complexes at the Ifng locus drives Th1 differentiation
-
S. Chang, P. L. Collins, T. M. Aune, T-bet dependent removal of Sin3A-histone deacetylase complexes at the Ifng locus drives Th1 differentiation. J. Immunol. 181, 8372-8381 (2008).
-
(2008)
J. Immunol.
, vol.181
, pp. 8372-8381
-
-
Chang, S.1
Collins, P.L.2
Aune, T.M.3
-
30
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
X. Nan, H. H. Ng, C. A. Johnson, C. D. Laherty, B. M. Turner, R. N. Eisenman, A. Bird, Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386-389 (1998).
-
(1998)
Nature
, vol.393
, pp. 386-389
-
-
Nan, X.1
Ng, H.H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
31
-
-
79953072406
-
Partial recessive IFN-gR1 deficiency: Genetic, immunological and clinical features of 14 patients from 11 kindreds
-
I. Sologuren, S. Boisson-Dupuis, J. Pestano, Q. B. Vincent, L. Fernández-Pérez, A. Chapgier, M. Cárdenes, J. Feinberg, M. I. García-Laorden, C. Picard, E. Santiago, X. Kong, L. Jannière, E. Colino, E. Herrera-Ramos, A. Francés, C. Navarrete, S. Blanche, E. Faria, P. Remiszewski, A. Cordeiro, A. Freeman, S. Holland, K. Abarca, M. Valerón-Lemaur, J. Gonçalo-Marques, L. Silveira, J. M. García-Castellano, J. Caminero, J. L. Pérez-Arellano, J. Bustamante, L. Abel, J. L. Casanova, C. Rodriguez-Gallego, Partial recessive IFN-gR1 deficiency: Genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum. Mol. Genet. 20, 1509-1523 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1509-1523
-
-
Sologuren, I.1
Boisson-Dupuis, S.2
Pestano, J.3
Vincent, Q.B.4
Fernández-Pérez, L.5
Chapgier, A.6
Cárdenes, M.7
Feinberg, J.8
García-Laorden, M.I.9
Picard, C.10
Santiago, E.11
Kong, X.12
Jannière, L.13
Colino, E.14
Herrera-Ramos, E.15
Francés, A.16
Navarrete, C.17
Blanche, S.18
Faria, E.19
Remiszewski, P.20
Cordeiro, A.21
Freeman, A.22
Holland, S.23
Abarca, K.24
Valerón-Lemaur, M.25
Gonçalo-Marques, J.26
Silveira, L.27
García-Castellano, J.M.28
Caminero, J.29
Pérez-Arellano, J.L.30
Bustamante, J.31
Abel, L.32
Casanova, J.L.33
Rodriguez-Gallego, C.34
more..
-
32
-
-
80051876588
-
Severe impairment of IFN-γ and IFN-αresponses in cells of a patient with a novel STAT1 splicing mutation
-
D. Vairo, L. Tassone, G. Tabellini, N. Tamassia, S. Gasperini, F. Bazzoni, A. Plebani, F. Porta, L. D. Notarangelo, S. Parolini, S. Giliani, R. Badolato, Severe impairment of IFN-γ and IFN-αresponses in cells of a patient with a novel STAT1 splicing mutation. Blood 118, 1806-1817 (2011).
-
(2011)
Blood
, vol.118
, pp. 1806-1817
-
-
Vairo, D.1
Tassone, L.2
Tabellini, G.3
Tamassia, N.4
Gasperini, S.5
Bazzoni, F.6
Plebani, A.7
Porta, F.8
Notarangelo, L.D.9
Parolini, S.10
Giliani, S.11
Badolato, R.12
-
33
-
-
77649229733
-
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-g receptor 1 deficiency
-
C. Prando, S. Boisson-Dupuis, A. V. Grant, X. F. Kong, J. Bustamante, J. Feinberg, A. Chapgier, Y. Rose, L. Janniere, E. Rizzardi, Q. Zhang, C. M. Shanahan, L. Viollet, S. Lyonnet, L. Abel, E. M. Ruga, J. L. Casanova, Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-g receptor 1 deficiency. Am. J. Med. Genet. A 152A, 622-629 (2010).
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 622-629
-
-
Prando, C.1
Boisson-Dupuis, S.2
Grant, A.V.3
Kong, X.F.4
Bustamante, J.5
Feinberg, J.6
Chapgier, A.7
Rose, Y.8
Janniere, L.9
Rizzardi, E.10
Zhang, Q.11
Shanahan, C.M.12
Viollet, L.13
Lyonnet, S.14
Abel, L.15
Ruga, E.M.16
Casanova, J.L.17
-
34
-
-
79954943814
-
The clinical spectrum of patients with deficiency of signal transducer and activator of transcription-1
-
D. Averbuch, A. Chapgier, S. Boisson-Dupuis, J. L. Casanova, D. Engelhard, The clinical spectrum of patients with deficiency of signal transducer and activator of transcription-1. Pediatr. Infect. Dis. J. 30, 352-355 (2011).
-
(2011)
Pediatr. Infect. Dis. J.
, vol.30
, pp. 352-355
-
-
Averbuch, D.1
Chapgier, A.2
Boisson-Dupuis, S.3
Casanova, J.L.4
Engelhard, D.5
-
35
-
-
78649351360
-
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries
-
L. de Beaucoudrey, A. Samarina, J. Bustamante, A. Cobat, S. Boisson-Dupuis, J. Feinberg, S. Al-Muhsen, L. Jannière, Y. Rose, M. de Suremain, X. F. Kong, O. Filipe-Santos, A. Chapgier, C. Picard, A. Fischer, F. Dogu, A. Ikinciogullari, G. Tanir, S. Al-Hajjar, S. Al-Jumaah, H. H. Frayha, Z. AlSum, S. Al-Ajaji, A. Alangari, A. Al-Ghonaium, P. Adimi, D. Mansouri, I. Ben-Mustapha, J. Yancoski, B. Z. Garty, C. Rodriguez-Gallego, I. Caragol, N. Kutukculer, D. S. Kumararatne, S. Patel, R. Doffinger, A. Exley, O. Jeppsson, J. Reichenbach, D. Nadal, Y. Boyko, B. Pietrucha, S. Anderson, M. Levin, L. Schandené, K. Schepers, A. Efira, F. Mascart, M. Matsuoka, T. Sakai, C. A. Siegrist, K. Frecerova, R. Bluetters-Sawatzki, J. Bernhöft, J. Freihorst, U. Baumann, D. Richter, F. Haerynck, F. De Baets, V. Novelli, D. Lammas, C. Vermylen, D. Tuerlinckx, C. Nieuwhof, M. Pac, W. H. Haas, I. Muller-Fleckenstein, B. Fleckenstein, J. Levy, R. Raj, A. C. Cohen, D. B. Lewis, S. M. Holland, K. D. Yang, X. Wang, X. Wang, L. Jiang, X. Yang, C. Zhu, Y. Xie, P. P. Lee, K. W. Chan, T. X. Chen, G. Castro, I. Natera, A. Codoceo, A. King, L. Bezrodnik, D. Di Giovani, M. I. Gaillard, D. de Moraes- Vasconcelos, A. S. Grumach, A. J. da Silva Duarte, R. Aldana, F. J. Espinosa-Rosales, M. Bejaoui, A. A. Bousfiha, J. E. Baghdadi, N. Ozbek, G. Aksu, M. Keser, A. Somer, N. Hatipoglu, C. Aydogmus, S. Asilsoy, Y. Camcioglu, S. Gülle, T. T. Ozgur, M. Ozen, M. Oleastro, A. Bernasconi, S. Mamishi, N. Parvaneh, S. Rosenzweig, R. Barbouche, S. Pedraza, Y. L. Lau,M. S. Ehlayel, C. Fieschi, L. Abel, O. Sanal, J. L. Casanova, Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries. Medicine 89, 381-402 (2010).
-
(2010)
Medicine
, vol.89
, pp. 381-402
-
-
De Beaucoudrey, L.1
Samarina, A.2
Bustamante, J.3
Cobat, A.4
Boisson-Dupuis, S.5
Feinberg, J.6
Al-Muhsen, S.7
Jannière, L.8
Rose, Y.9
De Suremain, M.10
Kong, X.F.11
Filipe-Santos, O.12
Chapgier, A.13
Picard, C.14
Fischer, A.15
Dogu, F.16
Ikinciogullari, A.17
Tanir, G.18
Al-Hajjar, S.19
Al-Jumaah, S.20
Frayha, H.H.21
AlSum, Z.22
Al-Ajaji, S.23
Alangari, A.24
Al-Ghonaium, A.25
Adimi, P.26
Mansouri, D.27
Ben-Mustapha, I.28
Yancoski, J.29
Garty, B.Z.30
Rodriguez-Gallego, C.31
Caragol, I.32
Kutukculer, N.33
Kumararatne, D.S.34
Patel, S.35
Doffinger, R.36
Exley, A.37
Jeppsson, O.38
Reichenbach, J.39
Nadal, D.40
Boyko, Y.41
Pietrucha, B.42
Anderson, S.43
Levin, M.44
Schandené, L.45
Schepers, K.46
Efira, A.47
Mascart, F.48
Matsuoka, M.49
Sakai, T.50
Siegrist, C.A.51
Frecerova, K.52
Bluetters-Sawatzki, R.53
Bernhöft, J.54
Freihorst, J.55
Baumann, U.56
Richter, D.57
Haerynck, F.58
De Baets, F.59
Novelli, V.60
Lammas, D.61
Vermylen, C.62
Tuerlinckx, D.63
Nieuwhof, C.64
Pac, M.65
Haas, W.H.66
Muller-Fleckenstein, I.67
Fleckenstein, B.68
Levy, J.69
Raj, R.70
Cohen, A.C.71
Lewis, D.B.72
Holland, S.M.73
Yang, K.D.74
Wang, X.75
Wang, X.76
Jiang, L.77
Yang, X.78
Zhu, C.79
Xie, Y.80
Lee, P.P.81
Chan, K.W.82
Chen, T.X.83
Castro, G.84
Natera, I.85
Codoceo, A.86
King, A.87
Bezrodnik, L.88
Di Giovani, D.89
Gaillard, M.I.90
De Moraes- Vasconcelos, D.91
Grumach, A.S.92
Da Silva Duarte, A.J.93
Aldana, R.94
Espinosa-Rosales, F.J.95
Bejaoui, M.96
Bousfiha, A.A.97
Baghdadi, J.E.98
Ozbek, N.99
more..
-
36
-
-
84862777436
-
The transcription factors T-bet and Eomes control key checkpoints of natural killer cell maturation
-
S. M. Gordon, J. Chaix, L. J. Rupp, J. Wu, S. Madera, J. C. Sun, T. Lindsten, S. L. Reiner, The transcription factors T-bet and Eomes control key checkpoints of natural killer cell maturation. Immunity 36, 55-67 (2012).
-
(2012)
Immunity
, vol.36
, pp. 55-67
-
-
Gordon, S.M.1
Chaix, J.2
Rupp, L.J.3
Wu, J.4
Madera, S.5
Sun, J.C.6
Lindsten, T.7
Reiner, S.L.8
-
37
-
-
34548715822
-
Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis
-
M. Alvarez-Saavedra, M. A. Sáez, D. Kang, H. Y. Zoghbi, J. I. Young, Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum. Mol. Genet. 16, 2315-2325 (2007).
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2315-2325
-
-
Alvarez-Saavedra, M.1
Sáez, M.A.2
Kang, D.3
Zoghbi, H.Y.4
Young, J.I.5
-
38
-
-
15744363493
-
An immune basis for lung parenchymal destruction in chronic obstructive pulmonary disease and emphysema
-
S. Grumelli, D. B. Corry, L. Z. Song, L. Song, L. Green, J. Huh, J. Hacken, R. Espada, R. Bag, D. E. Lewis, F. Kheradmand, An immune basis for lung parenchymal destruction in chronic obstructive pulmonary disease and emphysema. PLoS Med. 1, e8 (2004).
-
(2004)
PLoS Med.
, vol.1
-
-
Grumelli, S.1
Corry, D.B.2
Song, L.Z.3
Song, L.4
Green, L.5
Huh, J.6
Hacken, J.7
Espada, R.8
Bag, R.9
Lewis, D.E.10
Kheradmand, F.11
-
39
-
-
0028089795
-
Differential effects of blockade of CD28-B7 on the development of Th1 or Th2 effector cells in experimental leishmaniasis
-
D. B. Corry, S. L. Reiner, P. S. Linsley, R. M. Locksley, Differential effects of blockade of CD28-B7 on the development of Th1 or Th2 effector cells in experimental leishmaniasis. J. Immunol. 153, 4142-4148 (1994).
-
(1994)
J. Immunol.
, vol.153
, pp. 4142-4148
-
-
Corry, D.B.1
Reiner, S.L.2
Linsley, P.S.3
Locksley, R.M.4
-
40
-
-
0029925517
-
Disruption of CD40-CD40 ligand interactions results in an enhanced susceptibility to Leishmania amazonensis infection
-
L. Soong, J. C. Xu, I. S. Grewal, P. Kima, J. Sun, B. J. Longley Jr., N. H. Ruddle, D. McMahon-Pratt, R. A. Flavell, Disruption of CD40-CD40 ligand interactions results in an enhanced susceptibility to Leishmania amazonensis infection. Immunity 4, 263-273 (1996).
-
(1996)
Immunity
, vol.4
, pp. 263-273
-
-
Soong, L.1
Xu, J.C.2
Grewal, I.S.3
Kima, P.4
Sun, J.5
Longley Jr., B.J.6
Ruddle, N.H.7
McMahon-Pratt, D.8
Flavell, R.A.9
-
41
-
-
0030068235
-
Interleukin 4, but not interleukin 5 or eosinophils, is required in a murine model of acute airway hyperreactivity
-
D. B. Corry, H. G. Folkesson, M. L. Warnock, D. J. Erle, M. A. Matthay, J. P. Wiener-Kronish, R. M. Locksley, Interleukin 4, but not interleukin 5 or eosinophils, is required in a murine model of acute airway hyperreactivity. J. Exp. Med. 183, 109-117 (1996).
-
(1996)
J. Exp. Med.
, vol.183
, pp. 109-117
-
-
Corry, D.B.1
Folkesson, H.G.2
Warnock, M.L.3
Erle, D.J.4
Matthay, M.A.5
Wiener-Kronish, J.P.6
Locksley, R.M.7
-
42
-
-
0037111369
-
A protease-activated pathway underlying Th cell type 2 activation and allergic lung disease
-
F. Kheradmand, A. Kiss, J. Xu, S. H. Lee, P. E. Kolattukudy, D. B. Corry, A protease-activated pathway underlying Th cell type 2 activation and allergic lung disease. J. Immunol. 169, 5904-5911 (2002).
-
(2002)
J. Immunol.
, vol.169
, pp. 5904-5911
-
-
Kheradmand, F.1
Kiss, A.2
Xu, J.3
Lee, S.H.4
Kolattukudy, P.E.5
Corry, D.B.6
-
43
-
-
0031830756
-
Requirements for allergen-induced airway hyperreactivity in T and B cell-deficient mice
-
D. B. Corry, G. Grünig, H. Hadeiba, V. P. Kurup, M. L. Warnock, D. Sheppard, D. M. Rennick, R. M. Locksley, Requirements for allergen-induced airway hyperreactivity in T and B cell-deficient mice. Mol. Med. 4, 344-355 (1998).
-
(1998)
Mol. Med.
, vol.4
, pp. 344-355
-
-
Corry, D.B.1
Grünig, G.2
Hadeiba, H.3
Kurup, V.P.4
Warnock, M.L.5
Sheppard, D.6
Rennick, D.M.7
Locksley, R.M.8
-
44
-
-
17844372521
-
Endogenous attenuation of allergic lung inflammation by syndecan-1
-
J. Xu, P. W. Park, F. Kheradmand, D. B. Corry, Endogenous attenuation of allergic lung inflammation by syndecan-1. J. Immunol. 174, 5758-5765 (2005).
-
(2005)
J. Immunol.
, vol.174
, pp. 5758-5765
-
-
Xu, J.1
Park, P.W.2
Kheradmand, F.3
Corry, D.B.4
|