-
1
-
-
59149099919
-
Increased LIS1 expression affects human and mouse brain development
-
Bi W., et al. Increased LIS1 expression affects human and mouse brain development. Nat. Genet. 2009, 41:168-177.
-
(2009)
Nat. Genet.
, vol.41
, pp. 168-177
-
-
Bi, W.1
-
2
-
-
77951748698
-
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
-
Bruno D.L., et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J. Med. Genet. 2010, 47:299-311.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 299-311
-
-
Bruno, D.L.1
-
3
-
-
0031812415
-
Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter
-
Carreira S., Dexter T.J., Yavuzer U., Easty D.J., Goding C.R. Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. Mol. Cell. Biol. 1998, 18:5099-5108.
-
(1998)
Mol. Cell. Biol.
, vol.18
, pp. 5099-5108
-
-
Carreira, S.1
Dexter, T.J.2
Yavuzer, U.3
Easty, D.J.4
Goding, C.R.5
-
4
-
-
65249151895
-
Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis
-
Caterino M., et al. Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. J. Proteome Res. 2009, 8:1515-1526.
-
(2009)
J. Proteome Res.
, vol.8
, pp. 1515-1526
-
-
Caterino, M.1
-
5
-
-
0025968152
-
Clinical and molecular diagnosis of Miller-Dieker syndrome
-
Dobyns W.B., Curry C.J., Hoyme H.E., Turlington L., Ledbetter D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet. 1991, 48:584-594.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 584-594
-
-
Dobyns, W.B.1
Curry, C.J.2
Hoyme, H.E.3
Turlington, L.4
Ledbetter, D.H.5
-
6
-
-
34548477406
-
Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors
-
Farin H.F., Bussen M., Schmidt M.K., Singh M.K., Schuster-Gossler K., Kispert A. Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors. J. Biol. Chem. 2007, 282:25748-25759.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 25748-25759
-
-
Farin, H.F.1
Bussen, M.2
Schmidt, M.K.3
Singh, M.K.4
Schuster-Gossler, K.5
Kispert, A.6
-
7
-
-
77952711196
-
Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle
-
Freyer L., Morrow B.E. Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle. Dev. Dyn. 2010, 239:1708-1722.
-
(2010)
Dev. Dyn.
, vol.239
, pp. 1708-1722
-
-
Freyer, L.1
Morrow, B.E.2
-
8
-
-
67649503019
-
Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner
-
Fulcoli F.G., Huynh T., Scambler P.J., Baldini A. Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One 2009, 4:e6049.
-
(2009)
PLoS One
, vol.4
-
-
Fulcoli, F.G.1
Huynh, T.2
Scambler, P.J.3
Baldini, A.4
-
9
-
-
0035445835
-
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
-
Ghosh T.K., Packham E.A., Bonser A.J., Robinson T.E., Cross S.J., Brook J.D. Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum. Mol. Genet. 2001, 10:1983-1994.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1983-1994
-
-
Ghosh, T.K.1
Packham, E.A.2
Bonser, A.J.3
Robinson, T.E.4
Cross, S.J.5
Brook, J.D.6
-
10
-
-
0035653927
-
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
-
Gong W., et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet. 2001, 38:E45.
-
(2001)
J. Med. Genet.
, vol.38
-
-
Gong, W.1
-
11
-
-
0029033305
-
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
-
Goodship J., Cross I., Scambler P., Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 1995, 32:746-748.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 746-748
-
-
Goodship, J.1
Cross, I.2
Scambler, P.3
Burn, J.4
-
12
-
-
78049292259
-
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
-
Griffin H.R., et al. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart 2010, 96:1651-1655.
-
(2010)
Heart
, vol.96
, pp. 1651-1655
-
-
Griffin, H.R.1
-
13
-
-
9444265974
-
Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors
-
Hu T., Yamagishi H., Maeda J., McAnally J., Yamagishi C., Srivastava D. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 2004, 131:5491-5502.
-
(2004)
Development
, vol.131
, pp. 5491-5502
-
-
Hu, T.1
Yamagishi, H.2
Maeda, J.3
McAnally, J.4
Yamagishi, C.5
Srivastava, D.6
-
14
-
-
58149269736
-
Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells
-
Huang L., Chi J., Berry F.B., Footz T.K., Sharp M.W., Walter M.A. Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells. Invest. Ophthalmol. Vis. Sci. 2008, 49:5243-5249.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 5243-5249
-
-
Huang, L.1
Chi, J.2
Berry, F.B.3
Footz, T.K.4
Sharp, M.W.5
Walter, M.A.6
-
15
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 2001, 27:286-291.
-
(2001)
Nat. Genet.
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
16
-
-
0027867215
-
The Brachyury gene encodes a novel DNA binding protein
-
Kispert A., Hermann B.G. The Brachyury gene encodes a novel DNA binding protein. EMBO J. 1993, 12:4898-4899.
-
(1993)
EMBO J.
, vol.12
, pp. 4898-4899
-
-
Kispert, A.1
Hermann, B.G.2
-
17
-
-
0029165111
-
The T protein encoded by Brachyury is a tissue-specific transcription factor
-
Kispert A., Koschorz B., Herrmann B.G. The T protein encoded by Brachyury is a tissue-specific transcription factor. EMBO J. 1995, 14:4763-4772.
-
(1995)
EMBO J.
, vol.14
, pp. 4763-4772
-
-
Kispert, A.1
Koschorz, B.2
Herrmann, B.G.3
-
18
-
-
4344645793
-
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
-
Liao J., et al. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 2004, 13:1577-1585.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1577-1585
-
-
Liao, J.1
-
19
-
-
0037135545
-
The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator
-
Lingbeek M.E., Jacobs J.J., van Lohuizen M. The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator. J. Biol. Chem. 2002, 277:26120-26127.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 26120-26127
-
-
Lingbeek, M.E.1
Jacobs, J.J.2
van Lohuizen, M.3
-
20
-
-
33644916369
-
Tbx1 is regulated by forkhead proteins in the secondary heart field
-
Maeda J., Yamagishi H., McAnally J., Yamagishi C., Srivastava D. Tbx1 is regulated by forkhead proteins in the secondary heart field. Dev. Dyn. 2006, 235:701-710.
-
(2006)
Dev. Dyn.
, vol.235
, pp. 701-710
-
-
Maeda, J.1
Yamagishi, H.2
McAnally, J.3
Yamagishi, C.4
Srivastava, D.5
-
21
-
-
0031659846
-
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
-
Matsuoka R., et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum. Genet. 1998, 103:70-80.
-
(1998)
Hum. Genet.
, vol.103
, pp. 70-80
-
-
Matsuoka, R.1
-
22
-
-
70350167612
-
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
-
Nagamani S.C., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J. Med. Genet. 2009, 46:825-833.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 825-833
-
-
Nagamani, S.C.1
-
23
-
-
78751520246
-
Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice
-
Okubo T., et al. Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. Development 2011, 138:339-348.
-
(2011)
Development
, vol.138
, pp. 339-348
-
-
Okubo, T.1
-
24
-
-
33646733029
-
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome
-
Paylor R., et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:7729-7734.
-
(2006)
Proc. Natl. Acad. Sci. U. S. A.
, vol.103
, pp. 7729-7734
-
-
Paylor, R.1
-
25
-
-
78751526821
-
Her9 represses neurogenic fate downstream of Tbx1 and retinoic acid signaling in the inner ear
-
Radosevic M., Robert-Moreno A., Coolen M., Bally-Cuif L., Alsina B. Her9 represses neurogenic fate downstream of Tbx1 and retinoic acid signaling in the inner ear. Development 2011, 138:397-408.
-
(2011)
Development
, vol.138
, pp. 397-408
-
-
Radosevic, M.1
Robert-Moreno, A.2
Coolen, M.3
Bally-Cuif, L.4
Alsina, B.5
-
26
-
-
2342419491
-
Suppression of neural fate and control of inner ear morphogenesis by Tbx1
-
Raft S., Nowotschin S., Liao J., Morrow B.E. Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development 2004, 131:1801-1812.
-
(2004)
Development
, vol.131
, pp. 1801-1812
-
-
Raft, S.1
Nowotschin, S.2
Liao, J.3
Morrow, B.E.4
-
27
-
-
70349687256
-
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome
-
Roos L., et al. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J. Med. Genet. 2009, 46:703-710.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 703-710
-
-
Roos, L.1
-
28
-
-
21744438839
-
Velo-cardio-facial syndrome
-
Wiley, Hoboken, S.B. Cassidy, J.E. Allanson (Eds.)
-
Shprintzen R.J. Velo-cardio-facial syndrome. Management of Genetic Syndromes 2005, 615-631. Wiley, Hoboken. S.B. Cassidy, J.E. Allanson (Eds.).
-
(2005)
Management of Genetic Syndromes
, pp. 615-631
-
-
Shprintzen, R.J.1
-
29
-
-
0034722673
-
Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2
-
Sinha S., Abraham S., Gronostajski R.M., Campbell C.E. Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2. Gene 2000, 258:15-29.
-
(2000)
Gene
, vol.258
, pp. 15-29
-
-
Sinha, S.1
Abraham, S.2
Gronostajski, R.M.3
Campbell, C.E.4
-
30
-
-
10744232301
-
Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection
-
Sousa-Nunes R., et al. Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection. Genome Res. 2003, 13:2609-2620.
-
(2003)
Genome Res.
, vol.13
, pp. 2609-2620
-
-
Sousa-Nunes, R.1
-
31
-
-
77952573731
-
Ash2l interacts with Tbx1 and is required during early embryogenesis
-
Stoller J.Z., et al. Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp. Biol. Med. (Maywood) 2010, 235:569-576.
-
(2010)
Exp. Biol. Med. (Maywood)
, vol.235
, pp. 569-576
-
-
Stoller, J.Z.1
-
32
-
-
0002055560
-
Etiologic categorization of common congenital heart disease
-
Futura Pub. Co. R.V. Praagh, A. Takao (Eds.)
-
Takao A., Masashiko A., Cho K., Kinouchi A., Murakami Y. Etiologic categorization of common congenital heart disease. Etiology and Morphogenesis of Congenital Heart Disease 1980, 540. Futura Pub. Co. R.V. Praagh, A. Takao (Eds.).
-
(1980)
Etiology and Morphogenesis of Congenital Heart Disease
, pp. 540
-
-
Takao, A.1
Masashiko, A.2
Cho, K.3
Kinouchi, A.4
Murakami, Y.5
-
33
-
-
77956876375
-
Paraxial T-box genes, Tbx6 and Tbx1, are required for cranial chondrogenesis and myogenesis
-
Tazumi S., Yabe S., Uchiyama H. Paraxial T-box genes, Tbx6 and Tbx1, are required for cranial chondrogenesis and myogenesis. Dev. Biol. 2010, 346:170-180.
-
(2010)
Dev. Biol.
, vol.346
, pp. 170-180
-
-
Tazumi, S.1
Yabe, S.2
Uchiyama, H.3
-
34
-
-
77951203831
-
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome
-
van Bueren K.L., et al. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev. Biol. 2010, 340:369-380.
-
(2010)
Dev. Biol.
, vol.340
, pp. 369-380
-
-
van Bueren, K.L.1
-
35
-
-
0038030931
-
Twenty one years of P19 cells: what an embryonal carcinoma cell line taught us about cardiomyocyte differentiation
-
van der Heyden M.A., Defize L.H. Twenty one years of P19 cells: what an embryonal carcinoma cell line taught us about cardiomyocyte differentiation. Cardiovasc. Res. 2003, 58:292-302.
-
(2003)
Cardiovasc. Res.
, vol.58
, pp. 292-302
-
-
van der Heyden, M.A.1
Defize, L.H.2
-
37
-
-
33846794592
-
Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells
-
Xu H., Viola A., Zhang Z., Gerken C.P., Lindsay-Illingworth E.A., Baldini A. Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells. Dev. Biol. 2007, 302:670-682.
-
(2007)
Dev. Biol.
, vol.302
, pp. 670-682
-
-
Xu, H.1
Viola, A.2
Zhang, Z.3
Gerken, C.P.4
Lindsay-Illingworth, E.A.5
Baldini, A.6
-
38
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
Yagi H., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003, 362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
-
39
-
-
37549052138
-
In vivo response to high-resolution variation of Tbx1 mRNA dosage
-
Zhang Z., Baldini A. In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum. Mol. Genet. 2008, 17:150-157.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 150-157
-
-
Zhang, Z.1
Baldini, A.2
-
40
-
-
0037711776
-
Human p32 protein relieves a post-transcriptional block to HIV replication in murine cells
-
Zheng Y.H., Yu H.F., Peterlin B.M. Human p32 protein relieves a post-transcriptional block to HIV replication in murine cells. Nat. Cell Biol. 2003, 5:611-618.
-
(2003)
Nat. Cell Biol.
, vol.5
, pp. 611-618
-
-
Zheng, Y.H.1
Yu, H.F.2
Peterlin, B.M.3
-
41
-
-
33847196100
-
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
-
Zweier C., Sticht H., Aydin-Yaylagul I., Campbell C.E., Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 2007, 80:510-517.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 510-517
-
-
Zweier, C.1
Sticht, H.2
Aydin-Yaylagul, I.3
Campbell, C.E.4
Rauch, A.5
|