-
1
-
-
0030862399
-
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley R.H., Schiff R.I., Schiff S.E., Markert M.L., Williams L.W., Harville T.O., et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997, 130:378-387.
-
(1997)
J Pediatr
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
Markert, M.L.4
Williams, L.W.5
Harville, T.O.6
-
2
-
-
0024209085
-
Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children
-
Ryser O., Morell A., Hitzig W.H. Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol 1988, 8:479-485.
-
(1988)
J Clin Immunol
, vol.8
, pp. 479-485
-
-
Ryser, O.1
Morell, A.2
Hitzig, W.H.3
-
3
-
-
0027525387
-
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan J.L., Vlekova V., Le Deist F., Blanche S., Donadieu J., De Saint-Basile G., et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993, 123:564-572.
-
(1993)
J Pediatr
, vol.123
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le Deist, F.3
Blanche, S.4
Donadieu, J.5
De Saint-Basile, G.6
-
4
-
-
34948872289
-
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
Geha R.S., Notarangelo L.D., Casanova J.L., Chapel H., Conley M.E., Fischer A., 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.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 776-794
-
-
Geha, R.S.1
Notarangelo, L.D.2
Casanova, J.L.3
Chapel, H.4
Conley, M.E.5
Fischer, A.6
-
5
-
-
0033498237
-
Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness
-
Small T.N., Wall D.A., Kurtzberg J., Cowan M.J., O'Reilly R.J., Friedrich W. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. J Pediatr 1999, 135:387-389.
-
(1999)
J Pediatr
, vol.135
, pp. 387-389
-
-
Small, T.N.1
Wall, D.A.2
Kurtzberg, J.3
Cowan, M.J.4
O'Reilly, R.J.5
Friedrich, W.6
-
6
-
-
0030782492
-
B cells and monocytes are not developmentally affected in a case of reticular dysgenesis
-
De La Calle-Martin O., Badell I., Garcia A., Gelpi C., Casamitjana N., Estella J., et al. B cells and monocytes are not developmentally affected in a case of reticular dysgenesis. Clin Exp Immunol 1997, 110(3):392-396.
-
(1997)
Clin Exp Immunol
, vol.110
, Issue.3
, pp. 392-396
-
-
De La Calle-Martin, O.1
Badell, I.2
Garcia, A.3
Gelpi, C.4
Casamitjana, N.5
Estella, J.6
-
7
-
-
58149142930
-
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
-
Pannicke U., Honig M., Hess I., Friesen C., Holzmann K., Rump E.M., et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 2009, 41(1):101-105.
-
(2009)
Nat Genet
, vol.41
, Issue.1
, pp. 101-105
-
-
Pannicke, U.1
Honig, M.2
Hess, I.3
Friesen, C.4
Holzmann, K.5
Rump, E.M.6
-
8
-
-
58149144707
-
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
-
Lagresle-Peyrou C., Six E.M., Picard C., Rieux-Laucat F., Michel V., Ditadi A., et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 2009, 41(1):106-111.
-
(2009)
Nat Genet
, vol.41
, Issue.1
, pp. 106-111
-
-
Lagresle-Peyrou, C.1
Six, E.M.2
Picard, C.3
Rieux-Laucat, F.4
Michel, V.5
Ditadi, A.6
-
9
-
-
27244445183
-
Dynamics of nucleotide metabolism as a supporter of life phenomena
-
Noma T. Dynamics of nucleotide metabolism as a supporter of life phenomena. J Med Invest 2005, 52(3-4):127-136.
-
(2005)
J Med Invest
, vol.52
, Issue.3-4
, pp. 127-136
-
-
Noma, T.1
-
10
-
-
35748962612
-
AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10
-
Lee H.J., Pyo J.O., Oh Y., Kim H.J., Hong S.H., Jeon Y.J., et al. AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. Nat Cell Biol 2007, 9(11):1303-1310.
-
(2007)
Nat Cell Biol
, vol.9
, Issue.11
, pp. 1303-1310
-
-
Lee, H.J.1
Pyo, J.O.2
Oh, Y.3
Kim, H.J.4
Hong, S.H.5
Jeon, Y.J.6
-
12
-
-
0027462484
-
Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein
-
Gilks C.B., Bear S.E., Grimes H.L., Tsichlis P.N. Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein. Mol Cell Biol 1993, 13:1759-1768.
-
(1993)
Mol Cell Biol
, vol.13
, pp. 1759-1768
-
-
Gilks, C.B.1
Bear, S.E.2
Grimes, H.L.3
Tsichlis, P.N.4
-
13
-
-
0029806268
-
The Gfi-1 proto-oncoprotein contains a novel transcriptional repressor domain, SNAG, and inhibits G1 arrest induced by interleukin-2 withdrawal
-
Grimes H.L., Chan T.O., Zweidler-McKay P.A., Tong B., Tsichlis P.N. The Gfi-1 proto-oncoprotein contains a novel transcriptional repressor domain, SNAG, and inhibits G1 arrest induced by interleukin-2 withdrawal. Mol Cell Biol 1996, 16:6263-6272.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 6263-6272
-
-
Grimes, H.L.1
Chan, T.O.2
Zweidler-McKay, P.A.3
Tong, B.4
Tsichlis, P.N.5
-
14
-
-
0029897536
-
Gfi-1 encodes a nuclear zinc finger protein that binds DNA and functions as a transcriptional repressor
-
Zweidler-Mckay P.A., Grimes H.L., Flubacher M.M., Tsichlis P.N. Gfi-1 encodes a nuclear zinc finger protein that binds DNA and functions as a transcriptional repressor. Mol Cell Biol 1996, 16:4024-4034.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 4024-4034
-
-
Zweidler-Mckay, P.A.1
Grimes, H.L.2
Flubacher, M.M.3
Tsichlis, P.N.4
-
15
-
-
0037232661
-
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival
-
Wallis D., Hamblen M., Zhou Y., Venken K., Schumacher A., Grimes H.L., et al. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development 2003, 130:221-232.
-
(2003)
Development
, vol.130
, pp. 221-232
-
-
Wallis, D.1
Hamblen, M.2
Zhou, Y.3
Venken, K.4
Schumacher, A.5
Grimes, H.L.6
-
16
-
-
4744376084
-
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
-
Hertzano R., Montcouquiol M., Rashi-Elkeles S., Elkon R., Yucel R., Frankel W.N., et al. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet 2004, 13:2143-2153.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2143-2153
-
-
Hertzano, R.1
Montcouquiol, M.2
Rashi-Elkeles, S.3
Elkon, R.4
Yucel, R.5
Frankel, W.N.6
-
17
-
-
33644843788
-
Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells
-
Hock H., Orkin S.H. Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells. Curr Opin Hematol 2006, 13(1):1-6.
-
(2006)
Curr Opin Hematol
, vol.13
, Issue.1
, pp. 1-6
-
-
Hock, H.1
Orkin, S.H.2
-
18
-
-
17644443312
-
The transcriptional repressor Gfi1 affects development of early, uncommitted c-Kit+ T cell progenitors and CD4/CD8 lineage decision in the thymus
-
Yucel R., Karsunky H., Klein-Hitpass L., Moroy T. The transcriptional repressor Gfi1 affects development of early, uncommitted c-Kit+ T cell progenitors and CD4/CD8 lineage decision in the thymus. J Exp Med 2003, 197:831-844.
-
(2003)
J Exp Med
, vol.197
, pp. 831-844
-
-
Yucel, R.1
Karsunky, H.2
Klein-Hitpass, L.3
Moroy, T.4
-
19
-
-
0036510161
-
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1
-
Karsunky H., Zeng H., Schmidt T., Zevnik B., Kluge R., Schmid K.W., et al. Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. Nat Genet 2002, 30:295-300.
-
(2002)
Nat Genet
, vol.30
, pp. 295-300
-
-
Karsunky, H.1
Zeng, H.2
Schmidt, T.3
Zevnik, B.4
Kluge, R.5
Schmid, K.W.6
-
20
-
-
0037244284
-
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation
-
Hock H., Hamblen M.J., Rooke H.M., Traver D., Bronson R.T., Cameron S., et al. Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity 2003, 18:109-120.
-
(2003)
Immunity
, vol.18
, pp. 109-120
-
-
Hock, H.1
Hamblen, M.J.2
Rooke, H.M.3
Traver, D.4
Bronson, R.T.5
Cameron, S.6
-
21
-
-
7244231429
-
Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells
-
Hock H., Hamblen M.J., Rooke H.M., Schindler J.W., Saleque S., Fujiwara Y., et al. Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells. Nature 2004, 431(7011):1002-1007.
-
(2004)
Nature
, vol.431
, Issue.7011
, pp. 1002-1007
-
-
Hock, H.1
Hamblen, M.J.2
Rooke, H.M.3
Schindler, J.W.4
Saleque, S.5
Fujiwara, Y.6
-
22
-
-
0032535164
-
The human homologue (GFI1B) of the chicken GFI gene maps to chromosome 9q34.13-A locus frequently altered in hematopoietic diseases
-
Rodel B., Wagner T., Zornig M., Niessing J., Moroy T. The human homologue (GFI1B) of the chicken GFI gene maps to chromosome 9q34.13-A locus frequently altered in hematopoietic diseases. Genomics 1998, 54:580-582.
-
(1998)
Genomics
, vol.54
, pp. 580-582
-
-
Rodel, B.1
Wagner, T.2
Zornig, M.3
Niessing, J.4
Moroy, T.5
-
23
-
-
0031895515
-
The Gfi-1B proto-oncoprotein represses p21WAF1 and inhibits myeloid cell differentiation
-
Tong B., Grimes H.L., Yang T.Y., Bear S.E., Qin Z., Du K., et al. The Gfi-1B proto-oncoprotein represses p21WAF1 and inhibits myeloid cell differentiation. Mol Cell Biol 1998, 18:2462-2473.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 2462-2473
-
-
Tong, B.1
Grimes, H.L.2
Yang, T.Y.3
Bear, S.E.4
Qin, Z.5
Du, K.6
-
24
-
-
0036467868
-
The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages
-
Saleque S., Cameron S., Orkin S.H. The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages. Genes Dev 2002, 16:301-306.
-
(2002)
Genes Dev
, vol.16
, pp. 301-306
-
-
Saleque, S.1
Cameron, S.2
Orkin, S.H.3
-
25
-
-
0037371433
-
Growth factor independence-1B expression leads to defects in T cell activation, IL-7 receptor alpha expression, and T cell lineage commitment
-
Doan L.L., Kitay M.K., Yu Q., Singer A., Herblot S., Hoang T., et al. Growth factor independence-1B expression leads to defects in T cell activation, IL-7 receptor alpha expression, and T cell lineage commitment. J Immunol 2003, 170:2356-2366.
-
(2003)
J Immunol
, vol.170
, pp. 2356-2366
-
-
Doan, L.L.1
Kitay, M.K.2
Yu, Q.3
Singer, A.4
Herblot, S.5
Hoang, T.6
-
26
-
-
0037687417
-
Targets of the transcriptional repressor oncoprotein Gfi-1
-
Duan Z., Horwitz M. Targets of the transcriptional repressor oncoprotein Gfi-1. Proc Nat Acad Sci USA 2003, 100:5932-5937.
-
(2003)
Proc Nat Acad Sci USA
, vol.100
, pp. 5932-5937
-
-
Duan, Z.1
Horwitz, M.2
-
27
-
-
4644272644
-
Gfi1: green fluorescent protein knock-in mutant reveals differential expression and autoregulation of the growth factor independence 1 (Gfi1) gene during lymphocyte development
-
Yucel R., Kosan C., Heyd F., Moroy T. Gfi1: green fluorescent protein knock-in mutant reveals differential expression and autoregulation of the growth factor independence 1 (Gfi1) gene during lymphocyte development. J Biol Chem 2004, 279:40906-40917.
-
(2004)
J Biol Chem
, vol.279
, pp. 40906-40917
-
-
Yucel, R.1
Kosan, C.2
Heyd, F.3
Moroy, T.4
-
28
-
-
2442599107
-
Targeted transcriptional repression of Gfi1 by GFI1 and GFI1B in lymphoid cells
-
Doan L.L., Porter S.D., Duan Z., Flubacher M.M., Montoya D., Tsichlis P.N., et al. Targeted transcriptional repression of Gfi1 by GFI1 and GFI1B in lymphoid cells. Nucl Acids Res 2004, 32:2508-2519.
-
(2004)
Nucl Acids Res
, vol.32
, pp. 2508-2519
-
-
Doan, L.L.1
Porter, S.D.2
Duan, Z.3
Flubacher, M.M.4
Montoya, D.5
Tsichlis, P.N.6
-
29
-
-
14244258985
-
Direct transcriptional repression of the genes encoding the zinc-finger proteins Gfi1b and Gfi1 by Gfi1b
-
Vassen L., Fiolka K., Mahlmann S., Moroy T. Direct transcriptional repression of the genes encoding the zinc-finger proteins Gfi1b and Gfi1 by Gfi1b. Nucl Acids Res 2005, 33:987-998.
-
(2005)
Nucl Acids Res
, vol.33
, pp. 987-998
-
-
Vassen, L.1
Fiolka, K.2
Mahlmann, S.3
Moroy, T.4
-
30
-
-
33645766023
-
Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development
-
Fiolka K., Hertzano R., Vassen L., Zeng H., Hermesh O., Avraham K.B., et al. Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development. EMBO Rep 2006, 7:326-333.
-
(2006)
EMBO Rep
, vol.7
, pp. 326-333
-
-
Fiolka, K.1
Hertzano, R.2
Vassen, L.3
Zeng, H.4
Hermesh, O.5
Avraham, K.B.6
-
31
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person R.E., Li F.Q., Duan Z., Benson K.F., Wechsler J., Papadaki H.A., et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003, 34:308-312.
-
(2003)
Nat Genet
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
Benson, K.F.4
Wechsler, J.5
Papadaki, H.A.6
-
32
-
-
54049120956
-
E2F - at the crossroads of life and death
-
Polager S., Ginsberg D. E2F - at the crossroads of life and death. Trends Cell Biol 2008, 18(11):528-535.
-
(2008)
Trends Cell Biol
, vol.18
, Issue.11
, pp. 528-535
-
-
Polager, S.1
Ginsberg, D.2
-
33
-
-
61449249141
-
Balancing the decision of cell proliferation and cell fate
-
Hallstrom T.C., Nevins J.R. Balancing the decision of cell proliferation and cell fate. Cell Cycle 2009, 8(4):532-535.
-
(2009)
Cell Cycle
, vol.8
, Issue.4
, pp. 532-535
-
-
Hallstrom, T.C.1
Nevins, J.R.2
-
34
-
-
33744951302
-
Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia
-
Zhuang D., Qiu Y., Kogan S.C., Dong F. Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia. J Biol Chem 2006, 281(16):10745-10751.
-
(2006)
J Biol Chem
, vol.281
, Issue.16
, pp. 10745-10751
-
-
Zhuang, D.1
Qiu, Y.2
Kogan, S.C.3
Dong, F.4
-
35
-
-
15844384249
-
Et al. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development
-
Erkman L., McEvilly R.J., Luo L., Ryan A.K., Hooshmand F., O'Connell S.M. Et al. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 1996, 381:603-606.
-
(1996)
Nature
, vol.381
, pp. 603-606
-
-
Erkman, L.1
McEvilly, R.J.2
Luo, L.3
Ryan, A.K.4
Hooshmand, F.5
O'Connell, S.M.6
-
36
-
-
0030802157
-
Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development
-
Xiang M., Gan L., Li D., Chen Z.Y., Zhou L., O'Malley B.W.J., et al. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proc Nat Acad Sci USA 1997, 94:9445-9450.
-
(1997)
Proc Nat Acad Sci USA
, vol.94
, pp. 9445-9450
-
-
Xiang, M.1
Gan, L.2
Li, D.3
Chen, Z.Y.4
Zhou, L.5
O'Malley, B.W.J.6
-
37
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava O., Morell R., Lynch E.D., Weiss S., Kagan M.E., Ahituv N., et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998, 279:1950-1954.
-
(1998)
Science
, vol.279
, pp. 1950-1954
-
-
Vahava, O.1
Morell, R.2
Lynch, E.D.3
Weiss, S.4
Kagan, M.E.5
Ahituv, N.6
|