Cited by 108Developmental Biology and Gene RegulationCongenital limb and hand anomaliesGenomics and Chromatin Dynamics

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome

Carlson, H.·2001·Human Molecular Genetics

Open this paper in CoChat — free account

Abstract

Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development. Tbx3 is a member of a family of transcription factors that share a highly conserved DNA-binding domain known as the T-domain. UMS-causing mutations in Tbx3 have been found at numerous sites within the TBX3 gene, with many occurring downstream from the N-terminally located T-domain. The occurrence of mutations downstream of the DNA-binding domain raises the possibility that there exist important functional domains in C-terminal portions of the Tbx3 protein that affect its behavior as a transcription factor. To determine if and how such C-terminal mutations affect transcription we have mapped regions that confer transcriptional activity and nuclear localization and characterized the DNA binding properties of Tbx3. We find that Tbx3 binds the canonical Brachyury binding site as a monomer and represses transcription. We show that a key repression domain (RD1) resides in the Tbx3 C-terminus that can function as a portable repression domain. Most UMS-associated C-terminal mutants lack the RD1 and exhibit decreased or loss of transcriptional repression activity. In addition, we identify a domain responsible for nuclear localization of Tbx3 and show that two C-terminal mutants of Tbx3 have increased rates of protein decay. Finally, we show that Tbx3 can immortalize primary embryo fibroblasts and that the RD1 repression…

Integrity signals

Registry

Crossref · 10.1093/hmg/10.21.2403

Cites

24 of 24 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D. M., Kroumpouzou, E., Traill, T. A., LeBlanc-Straceski, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-30 · Cited by 1,090
Nonsense-mediated mRNA decayin health and disease
Frischmeyer, P. A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1893 · Cited by 991
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Qy, L., Newbury-Ecob, R. A., Ja, T., Wilson, D. I., Curtis, A. R. J., Yi, C., Gebuhr, T., Bullen, P., Robson, S. C., Strachan, T., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-21 · Cited by 922
Calcium phosphate-mediated gene transfer: a highly efficient transfection system for stably transforming cells with plasmid DNA.
Chen, C. A., & Okayama, H. (1990) · PubMed · Cited by 898
Cloning of the T gene required in mesoderm formation in the mouse
Herrmann, B. G., Labeit, S., Poustka, A., King, T. R., & Lehrach, H. R. (1990) · Nature · doi:10.1038/343617a0 · Cited by 839
The ARF/p53 pathway.
Sherr, C. J., & Weber, J. D. (2000) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(99)00038-6 · Cited by 654
A vector for expressing GAL4(1–147) fusions tn mammalian cells
Sadowski, I., & Ptashne, M. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.18.7539 · Cited by 546
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Bamshad, M., Lin, R. C., Law, D. J., Watkins, W. S., Krakowiak, P. A., Moore, M. E., Franceschini, P., Lala, R., Holmes, L. B., Gebuhr, T. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-311 · Cited by 540
Correction to: The Brachyury gene encodes a novel DNA binding protein.
Kispert, A., & Hermann, B. G. (1993) · The EMBO Journal · doi:10.1002/j.1460-2075.1993.tb06179.x · Cited by 403
Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19ARF) and is amplified in a subset of human breast cancers
Jacobs, J. J. L., Keblusek, P., Robanus-Maandag, E., Kristel, P., Lingbeek, M., Nederlof, P. M., van Welsem, T., van de Vijver, M. J., Koh, E. Y., Daley, G. Q., et al. (2000) · Nature Genetics · doi:10.1038/81583 · Cited by 368

Show all 24 references

Sorted by citations

Monogenic Obesity in Humans
Farooqi, I. S., & O’Rahilly, S. (2005) · Annual Review of Medicine · doi:10.1146/annurev.med.56.062904.144924 · Cited by 452
T-Box Genes in Vertebrate Development
Naiche, L. A., Harrelson, Z., Kelly, R. G., & Papaioannou, V. E. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.073003.105925 · Cited by 437
The T-box gene family: emerging roles in development, stem cells and cancer
Papaioannou, V. E. (2014) · Development · doi:10.1242/dev.104471 · Cited by 293
Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development
Harrelson, Z., Kelly, R. G., Goldin, S. N., Gibson‐Brown, J. J., Bollag, R. J., Silver, L. M., & Papaioannou, V. E. (2004) · Development · doi:10.1242/dev.01378 · Cited by 302
Mammary gland, limb and yolk sac defects in mice lacking Tbx3,the gene mutated in human ulnar mammary syndrome
Davenport, T. G., Jerome-Majewska, L. A., & Papaioannou, V. E. (2003) · Development · doi:10.1242/dev.00431 · Cited by 295
Tbx2 Is Overexpressed and Plays an Important Role in Maintaining Proliferation and Suppression of Senescence in Melanomas
Vance, K. W., Carreira, S., Brosch, G., & Goding, C. R. (2005) · Cancer Research · doi:10.1158/0008-5472.can-04-3045 · Cited by 234
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer
van den Boogaard, M., Wong, L. Y. E., Tessadori, F., Bakker, M. L., Dreizehnter, L., Wakker, V., Bezzina, C. R., Hoen, P. A. C. ’., Bakkers, J., Barnett, P., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci62613 · Cited by 203
T‐box genes and heart development: Putting the “T” in heart
Plageman, T. F., & Yutzey, K. E. (2004) · Developmental Dynamics · doi:10.1002/dvdy.20201 · Cited by 173
Tbx2 Directly Represses the Expression of the p21WAF1 Cyclin-Dependent Kinase Inhibitor
Prince, S., Carreira, S., Vance, K. W., Abrahams, A., & Goding, C. R. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-3286 · Cited by 165
The T-box Repressors TBX2 and TBX3Specifically Regulate the Tumor Suppressor Genep14 via a Variant T-site in the Initiator
Lingbeek, M. E., Jacobs, J. J. L., & van Lohuizen, M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200403200 · Cited by 160
A Pathway for the Control of Anoikis Sensitivity by E-Cadherin and Epithelial-to-Mesenchymal Transition
Kumar, S., Park, S. H., Cieply, B. W., Schupp, J. E., Killiam, E. J., Zhang, F., Rimm, D. L., & Frisch, S. M. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.01342-10 · Cited by 136
The T‐box transcription factor Tbx2: Its role in development and possible implication in cancer
Abrahams, A., Parker, M. I., & Prince, S. (2009) · IUBMB Life · doi:10.1002/iub.275 · Cited by 123
TBX3 Is Overexpressed in Breast Cancer and Represses p14ARF by Interacting with Histone Deacetylases
Yarosh, W., Barrientos, T., Esmailpour, T., Lin, L., Carpenter, P. M., Osann, K., Anton-Culver, H., & Huang, T. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-5012 · Cited by 105
Cardiovascular development: towards biomedical applicability
Hoogaars, W. M. H., Barnett, P., Moorman, A. F. M., & Christoffels, V. M. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-6518-z · Cited by 104
Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation
Carlson, H., Ota, S., Song, Y., Chen, Y., & Hurlin, P. J. (2002) · Oncogene · doi:10.1038/sj.onc.1205476 · Cited by 102
Self-citation
The roles and regulation of TBX3 in development and disease
Khan, S. F., Damerell, V., Omar, R., Du Toit, M., Khan, M., Maranyane, H. M., Mlaza, M., Bleloch, J., Bellis, C., Sahm, B. D. B., et al. (2020) · Gene · doi:10.1016/j.gene.2019.144223 · Cited by 99
“Furthermore, in vitro studies in which the RD1 was deleted resulted in decreased transcriptional activity of Tbx3 (Carlson et al., 2001).”
Background
The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup
Behesti, H., Holt, J. K. L., & Sowden, J. C. (2006) · BMC Developmental Biology · doi:10.1186/1471-213x-6-62 · Cited by 101
The Role of Tbx2 and Tbx3 in Mammary Development and Tumorigenesis
Rowley, M., Grothey, E., & Couch, F. J. (2004) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1023/b:jomg.0000037156.64331.3f · Cited by 97
TBX3 and Its Isoform TBX3+2a Are Functionally Distinctive in Inhibition of Senescence and Are Overexpressed in a Subset of Breast Cancer Cell Lines
Fan, W., Huang, X., Chen, C., Gray, J., & Huang, T. (2004) · Cancer Research · doi:10.1158/0008-5472.can-04-0615 · Cited by 136
The Highly Homologous T-Box Transcription Factors, TBX2 and TBX3, Have Distinct Roles in the Oncogenic Process
Peres, J., Davis-Marcisak, E. F., Mowla, S., Bennett, D. C., Li, J., Wansleben, S. M., & Prince, S. (2010) · Genes & Cancer · doi:10.1177/1947601910365160 · Cited by 90
Coordinated control of senescence by lncRNA and a novel T-box3 co-repressor complex
Pavan Kumar, P., Emechebe, U., Smith, R. A., Franklin, S., Moore, B., Yandell, M. D., Lessnick, S. L., & Moon, A. (2014) · eLife · doi:10.7554/elife.02805 · Cited by 87
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
Stoller, J. Z., & Epstein, J. A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi081 · Cited by 79
The T-box Transcription Factors TBX2 and TBX3 in Mammary Gland Development and Breast Cancer
Douglas, N. C., & Papaioannou, V. E. (2013) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1007/s10911-013-9282-8 · Cited by 76
Bone Metastasis of Prostate Cancer Can Be Therapeutically Targeted at the TBX2–WNT Signaling Axis
Nandana, S., Tripathi, M., Duan, P., Chu, C.-Y., Mishra, R., Liu, C., Jin, R., Yamashita, H., Zayzafoon, M., Bhowmick, N. A., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-16-0497 · Cited by 73
Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects
Meneghini, V., Odent, S., Platonova, N., Egeo, A., & Merlo, G. R. (2005) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2005.04.021 · Cited by 73
T‐genes and limb bud development
King, M., Arnold, J. S., Shanske, A. L., & Morrow, B. E. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31250 · Cited by 70
T-box transcription factors in cancer biology
Wansleben, S. M., Peres, J., Hare, S., Goding, C. R., & Prince, S. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.08.004 · Cited by 65
The Roles of T-Box Genes in Vertebrate Limb Development.
Sheeba, C., & Logan, M. (2017) · Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.08.009 · Cited by 54
TBX3 and its splice variant TBX3 + exon 2a are functionally similar
Hoogaars, W. M. H., Barnett, P., Rodríguez, M., Clout, D. E. W., Moorman, A. F. M., Goding, C. R., & Christoffels, V. M. (2008) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2008.00461.x · Cited by 65
The T-box factor TBX-2 and the SUMO conjugating enzyme UBC-9 are required for ABa-derived pharyngeal muscle in C. elegans
Roy‐Chowdhuri, S., Crum, T., Woollard, A. C. S., Aslam, S., & Okkema, P. G. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.04.001 · Cited by 61
TBX2 and TBX3: The special value for anticancer drug targets
Lu, J., Li, X.-P., Dong, Q., Kung, H.-F., & He, M.-L. (2010) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2010.07.001 · Cited by 57
Diverse functional networks of Tbx3 in development and disease
Washkowitz, A. J., Gavrilov, S., Begum, S., & Papaioannou, V. E. (2012) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.1162 · Cited by 58
The oncogenic TBX3 is a downstream target and mediator of the TGF-β1 signaling pathway
Li, J., Weinberg, M. S., Zerbini, L., & Prince, S. (2013) · Molecular Biology of the Cell · doi:10.1091/mbc.e13-05-0273 · Cited by 56
Ectopic Tbx2 expression results in polyploidy and cisplatin resistance
Davis-Marcisak, E. F., Teng, H., Bilican, B., Parker, M. I., Liu, B., Carriera, S., Goding, C. R., & Prince, S. (2007) · Oncogene · doi:10.1038/sj.onc.1210701 · Cited by 58
TBX3 Promotes Human Embryonic Stem Cell Proliferation and Neuroepithelial Differentiation in a Differentiation Stage-Dependent Manner
Esmailpour, T., & Huang, T. (2012) · Stem Cells · doi:10.1002/stem.1187 · Cited by 54
Tbx3 represses PTEN and is over-expressed in head and neck squamous cell carcinoma
Burgucu, D., Guney, K., Sahinturk, D., Ozbudak, I. H., Ozel, D., Ozbilim, G., & Yavuzer, U. (2012) · BMC Cancer · doi:10.1186/1471-2407-12-481 · Cited by 52
Tbx3can alter limb position along the rostrocaudal axis of the developing embryo
Rallis, C., Buono, J. D., & Logan, M. P. O. (2005) · Development · doi:10.1242/dev.01787 · Cited by 50
Whole genome microarray analysis of growth hormone-induced gene expression in bone: T-box3, a novel transcription factor, regulates osteoblast proliferation
Govoni, K. E., Lee, S. K., Chadwick, R. B., Yu, H., Kasukawa, Y., Baylink, D. J., & Mohan, S. (2006) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00592.2005 · Cited by 47
UV-mediated Regulation of the Anti-senescence Factor Tbx2
Abrahams, A., Mowla, S., Parker, M. I., Goding, C. R., & Prince, S. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m705651200 · Cited by 45
The T-Box transcription factor 3 in development and cancer
Willmer, T., Cooper, A., Peres, J., Omar, R., & Prince, S. (2017) · BioScience Trends · doi:10.5582/bst.2017.01043 · Cited by 44
Cell cycle regulation of the T-box transcription factor tbx2
Bilican, B., & Goding, C. R. (2006) · Experimental Cell Research · doi:10.1016/j.yexcr.2006.03.033 · Cited by 44
The special stemness functions of Tbx3 in stem cells and cancer development
Dong, L., Lyu, X., Faleti, O. D., & He, M.-L. (2019) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2018.09.010 · Cited by 41
Loss of Tbx2 delays optic vesicle invagination leading to small optic cups
Behesti, H., Papaioannou, V. E., & Sowden, J. C. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.06.026 · Cited by 41
Role of T-box gene tbx-2 for anterior foregut muscle development in C. elegans
Smith, P. A., & Mango, S. E. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.08.023 · Cited by 41
TBX2/TBX3 transcriptional factor homologue controls olfactory adaptation in Caenorhabditis elegans
Miyahara, K., Suzuki, N., Ishihara, T., Tsuchiya, E., & Katsura, I. (2004) · Journal of Neurobiology · doi:10.1002/neu.10299 · Cited by 40
TBX3 Regulates Splicing In Vivo: A Novel Molecular Mechanism for Ulnar-Mammary Syndrome
Pavan Kumar, P., Franklin, S., Emechebe, U., Hu, H., Moore, B., Lehman, C. W., Yandell, M. D., & Moon, A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004247 · Cited by 41
T‐box 3 negatively regulates osteoblast differentiation by inhibiting expression of osterix and runx2
Govoni, K. E., Linares, G. R., Chen, S., Pourteymoor, S., & Mohan, S. (2008) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22035 · Cited by 41
Mouse Tbx3 Mutants Suggest Novel Molecular Mechanisms for Ulnar-Mammary Syndrome
Frank, D. U., Emechebe, U., Thomas, K. R., & Moon, A. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0067841 · Cited by 39
“This is consistent with deletion of a previously described nuclear localization signal [10].”
Influential
PMA-induced up-regulation of TBX3 is mediated by AP-1 and contributes to breast cancer cell migration
Mowla, S., Pinnock, R., Leaner, V. D., Goding, C. R., & Prince, S. (2011) · Biochemical Journal · doi:10.1042/bj20100886 · Cited by 38
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53
Platonova, N., Scotti, M., Babich, P. S., Bertoli, G. R., Mento, E., Meneghini, V., Egeo, A., Zucchi, I., & Merlo, G. R. (2007) · Cell and Tissue Research · doi:10.1007/s00441-006-0364-4 · Cited by 38
The T-box transcription factor TBX3 drives proliferation by direct repression of the p21WAF1 cyclin-dependent kinase inhibitor
Willmer, T., Hare, S., Peres, J., & Prince, S. (2016) · Cell Division · doi:10.1186/s13008-016-0019-0 · Cited by 40
Functional characterization of TBR1 variants in neurodevelopmental disorder
den Hoed, J., Sollis, E., Venselaar, H., Estruch, S. B., Deriziotis, P., & Fisher, S. E. (2018) · Scientific Reports · doi:10.1038/s41598-018-32053-6 · Cited by 37
Novel HDAC5-interacting motifs of Tbx3 are essential for the suppression of E-cadherin expression and for the promotion of metastasis in hepatocellular carcinoma
Dong, L., Dong, Q., Chen, Y., Li, Y., Zhang, B., Zhou, F., Lyu, X., Chen, G. G., Lai, P., Kung, H.-F., et al. (2018) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-018-0025-6 · Cited by 36
TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model
Liu, J., Esmailpour, T., Shang, X., Gülşen, G., Liu, A., & Huang, T. (2011) · BMC Developmental Biology · doi:10.1186/1471-213x-11-65 · Cited by 34
T-box 3 is expressed in the adult mouse hypothalamus and medulla
Eriksson, K. S., & Mignot, E. J.-M. (2009) · Brain Research · doi:10.1016/j.brainres.2009.08.101 · Cited by 32
Analysis of gene expression in neural cells subject to chronic proteasome inhibition
Ding, Q., Bruce‐Keller, A. J., Chen, Q., & Keller, J. N. (2003) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2003.10.025 · Cited by 30
Disruption of a Sox9–β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II
Shung, C.-Y., Ota, S., Zhou, Z.-Q., Keene, D. R., & Hurlin, P. J. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds305 · Cited by 27
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt‐Oram and ulnar‐mammary syndromes
Borozdin, W., Acosta, A. M. B. F., Seemanová, E., Leipoldt, M., Bamshad, M. J., Unger, S., & Kohlhase, J. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31340 · Cited by 26
The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects
Ota, S., Zhou, Z.-Q., Link, J. M., & Hurlin, P. J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp195 · Cited by 27
The Transcription Factors TBX2 and TBX3 Interact with Human Papillomavirus 16 (HPV16) L2 and Repress the Long Control Region of HPVs
Schneider, M. A., Scheffer, K. D., Bund, T., Boukhallouk, F., Lambert, C., Cotarelo, C., Pflugfelder, G. O., Florin, L., & Spoden, G. A. (2013) · Journal of Virology · doi:10.1128/jvi.01803-12 · Cited by 30
Differential Expression of Meis2, Mab21l2 and Tbx3 during Limb Development Associated with Diversification of Limb Morphology in Mammals
Dai, M., Wang, Y., Fang, L., Irwin, D. M., Zhu, T., Zhang, J., Zhang, S., & Wang, Z. (2014) · PLoS ONE · doi:10.1371/journal.pone.0106100 · Cited by 23
Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression
Fischer, K. H., & Pflugfelder, G. O. (2015) · Frontiers in Oncology · doi:10.3389/fonc.2015.00244 · Cited by 21
Alternative splicing of T-box transcription factor genes
DeBenedittis, P., & Jiao, K. (2011) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2011.08.010 · Cited by 20
The relative role of the T-domain and flanking sequences for developmental control and transcriptional regulation in protein chimeras of Drosophila OMB and ORG-1
Porsch, M., Sauer, M., Schulze, S., Bahlo, A., Roth, M., & Pflugfelder, G. O. (2004) · Mechanisms of Development · doi:10.1016/j.mod.2004.08.007 · Cited by 20
The ulnar-mammary syndrome gene,Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development
Ballim, R. D., Mendelsohn, C. L., Papaioannou, V. E., & Prince, S. (2012) · Molecular Biology of the Cell · doi:10.1091/mbc.e11-09-0790 · Cited by 20
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum
Bogarapu, S., Bleyl, S. B., Calhoun, A. R. U. L., Viskochil, D. H., Saarel, E. V., Everitt, M. D., & Frank, D. U. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36447 · Cited by 18
Loss of TBX3 enhances pancreatic progenitor generation from human pluripotent stem cells
Mukherjee, S., French, D. L., & Gadue, P. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.09.004 · Cited by 17
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome
Galazzi, E., Duminuco, P., Moro, M., Guizzardi, F., Marazzi, N., Sartório, A., Avignone, S., Bonomi, M., Persani, L., & Bonati, M. T. (2018) · Endocrine Connections · doi:10.1530/ec-18-0486 · Cited by 17
Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing
Bahceci, D. H., Grenert, J. P., Jordan, R. C., & Horvai, A. (2023) · Head and Neck Pathology · doi:10.1007/s12105-022-01523-9 · Cited by 16
TBX3, a downstream target of TGF-β1, inhibits mesangial cell apoptosis
Wensing, L. A., & Campos, A. H. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.08.022 · Cited by 15
The oncoprotein TBX3 is controlling severity in experimental arthritis
Sardar, S., Kerr, A., Vaartjes, D., Moltved, E. R., Karosiene, E., Gupta, R., & Andersson, Å. (2019) · Arthritis Research & Therapy · doi:10.1186/s13075-018-1797-3 · Cited by 13
“Nevertheless, TBX3 contains both activation and repression domains that are suggested to be modulated in different cellular milieus [17, 18].”
Background
Genetic and functional analysis of the TBX3 gene promoter in indirect inguinal hernia
Zhao, Z., Tian, W., Wang, L., Wang, H., Qin, X., Xing, Q., Pang, S., & Yan, B. (2014) · Gene · doi:10.1016/j.gene.2014.10.031 · Cited by 14
omb and circumstance
Pflugfelder, G. O. (2008) · Journal of Neurogenetics · doi:10.1080/01677060802471619 · Cited by 13
The c-Myc/TBX3 Axis Promotes Cellular Transformation of Sarcoma-Initiating Cells
Damerell, V., Ambele, M. A., Salisbury, S., Neumann-Mufweba, A., Durandt, C., Pepper, M. S., & Prince, S. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2021.801691 · Cited by 12
Genetic analysis of the TBX3 gene promoter in ventricular septal defects
Chen, D., Qiao, Y., Meng, H., Pang, S., Huang, W., Zhang, H., & Yan, B. (2012) · Gene · doi:10.1016/j.gene.2012.10.066 · Cited by 11
Analysis of methylation datasets identified significantly changed genes and functional pathways in osteoarthritis
Han, B., Zheng, Z., Ren, J., Qiu, W., & Li, X. (2019) · Clinical Rheumatology · doi:10.1007/s10067-019-04700-4 · Cited by 10
Reduced activity and cytoplasmic localization of Runx2 is observed in C3h10t1/2 cells overexpressing Tbx3
Deepak, V., Zhang, Z., Meng, L., Zeng, X., & Liu, W. (2011) · Cell Biochemistry and Function · doi:10.1002/cbf.1753 · Cited by 10
DNA Methylation Changes in Tbx3 in a Mouse Model Exposed to Polybrominated Diphenyl Ethers
Shimbo, T., Dunnick, J. K., Brix, A. E., Mav, D., Shah, R., Roberts, J. D., & Wade, P. A. (2017) · International Journal of Toxicology · doi:10.1177/1091581817706676 · Cited by 9
TBX3 is essential for establishment of the posterior boundary of anterior genes and upregulation of posterior genes together with HAND2 during the onset of limb bud development
Soussi, G., Girdžiušaitė, A., Jhanwar, S., Palacio, V., Notaro, M., Sheth, R., Zeller, R., & Zúñiga, A. (2024) · Development · doi:10.1242/dev.202722 · Cited by 9
Arp2/3 complex activity is necessary for mouse ESC differentiation, times formative pluripotency, and enables lineage specification
Aloisio, F. M., & Barber, D. L. (2022) · Stem Cell Reports · doi:10.1016/j.stemcr.2022.05.002 · Cited by 7
Comprehensive analysis of the clinical significance and molecular mechanism of T-box transcription factor 3 in osteosarcoma
Man, Y.-N., Xu, H., Chen, P.-J., Sun, Y., & He, M. (2024) · Journal of Cancer · doi:10.7150/jca.96168 · Cited by 6
The developmental factor TBX3 engages with the Wnt/β-catenin transcriptional complex in colorectal cancer to regulate metastasis genes
Jauregi‐Miguel, A., Söderholm, S., Weiss, T., Nordin, A., Ghezzi, V., Brütsch, S. M., Pagella, P., van de Grift, Y. B. C., Zambanini, G., Ulisse, J., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2419691122 · Cited by 6
An integrated computational approach to screening of alkaloids inhibitors of TBX3 in breast cancer cell lines
Paul, A., Limon, M. B. H., Hossain, M. M., & Raza, M. T. (2022) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2022.2046166 · Cited by 7
Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome
Zhang, X., Chen, L., Li, L., An, J., He, Q., Zhang, X., Lu, W., Xiao, Y., & Dong, Z. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1052931 · Cited by 5
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
Tung, M. L., Chandra, B., Kotlarek, J., Melo, M., Phillippi, E. S., Justice, C. M., Musolf, A. M., Boyadijev, S. A., Romitti, P. A., Darbro, B. W., et al. (2022) · Genes · doi:10.3390/genes13091649 · Cited by 5
Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins
Sen, A., Gadomski, C., Balles, J., Abassi, Y., Dorner, C., & Pflugfelder, G. O. (2009) · Molecular Genetics and Genomics · doi:10.1007/s00438-009-0505-z · Cited by 5
Advancement in Mammary Stem Cell Research
Esmailpour, T., & Huang, T. (2008) · doi:10.29685/jcm.200812.0001 · Cited by 5
The Transcription Factor Tbx5-Dependent Epigenetic Modification Contributes to Neuropathic Allodynia by Activating TRPV1 Expression in the Dorsal Horn
Lai, C., Hsieh, M., Chou, D., Lin, K.-H., Wang, H.-H., Yang, P.-S., Lin, T.-B., & Peng, H. (2024) · Journal of Neuroscience · doi:10.1523/jneurosci.0497-24.2024 · Cited by 4
T-Box Factors
Conlon, F. L., & Yutzey, K. E. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-381332-9.00029-3 · Cited by 4
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster
Bottillo, I., Andrea, D., Ciccone, M. P., Cestra, G., Giacomo, G. D., Silvestri, E., Castori, M., Francesco, B., Andrea, L., Paiardini, A., et al. (2024) · Journal of Cellular Physiology · doi:10.1002/jcp.31440 · Cited by 3
The Developmental Transcription Factor TBX3 Physically Engages with the Wnt/β-catenin Transcriptional Complex in Human Colorectal Cancer Cells to Regulate Metastasis GenesPreprint
Jauregi‐Miguel, A., Söderholm, S., Weiss, T., Nordin, A., Ghezzi, V., Brütsch, S. M., Pagella, P., van de Grift, Y. B. C., Zambanini, G., Ulisse, J., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.18.571901 · Cited by 3
TBX3 ‐ Related Disorder
Halperin, Z., & Weiss, K. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64260 · Cited by 2
Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review.
Peng, N., Guo, M., & Jiang, T. (2022) · PubMed Central · doi:10.11817/j.issn.1672-7347.2022.220197 · Cited by 2
Developmental Aspects of the Electrophysiology of the Heart: Function Follows Form
Postma, A. V., Christoffels, V. M., & Moorman, A. F. M. (2013) · Springer eBooks · doi:10.1007/978-1-4471-4881-4_3 · Cited by 2
Tbx2 mediates dorsal patterning and germ layer suppression through inhibition of BMP/GDF and Activin/Nodal signaling
Reich, S., Kayastha, P., Teegala, S., & Weinstein, D. C. (2020) · BMC Molecular and Cell Biology · doi:10.1186/s12860-020-00282-1 · Cited by 2
Role of T-box transcription factor 3 in gastric cancers
Asano, N., Imatani, A., Takeuchi, A., Saito, M., Jin, X., Hatta, W., Uno, K., Koike, T., & Masamune, A. (2023) · World Journal of Gastrointestinal Pathophysiology · doi:10.4291/wjgp.v14.i2.12 · Cited by 2
Ulnar-Mammary Syndrome
(2007) · Humana Press eBooks · doi:10.1007/978-1-60327-161-5_192 · Cited by 1
Developmental Aspects of the Electrophysiology of the Heart: Function Follows Form
Postma, A. V., Christoffels, V. M., & Moorman, A. F. M. (2008) · Springer eBooks · doi:10.1007/978-1-84628-854-8_3 · Cited by 1
Competition between T-box transcription factors contributes to developmental dynamics of the mouse embryo
Wehn, A. K. (2010) · D-Scholarship@Pitt (University of Pittsburgh)
Regulação do gene TBX3 por TGF-b1 em células mesangiais.
Wensing, L. A. (2013) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.42.2013.tde-12062013-103546

Authors: Carlson, H.
Affiliations: Oregon Health & Science University (US)
Corresponding author: Carlson, H.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2001-10-01
Volume: 10
Issue: 21
Pages: 2403-2413
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/10.21.2403
OpenAlex: W2142480298
Cited by: 108
References: 24
Citations by year: 2025: 3 · 2024: 5 · 2023: 4 · 2022: 5 · 2021: 1 · 2020: 1 · 2019: 3 · 2018: 5 · 2017: 3 · 2016: 2 · 2015: 1 · 2014: 8 · 2013: 8 · 2012: 9
FWCI: 1.28
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Shriners Hospitals for Children
National Institutes of Health
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK048796, DK48796)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords: TBX3, ulnar-mammary syndrome, transcriptional repression, repression domain, C-terminal mutations, nuclear localization, protein stability, cell immortalization, T-domain, transcription factor domains, autosomal dominant disorder
MeSH terms: Abnormalities, Multiple, Animals, Binding Sites, Breast, Cell Division, Cell Line, Cell Line, Transformed, DNA-Binding Proteins, Embryo, Mammalian, Female, Fibroblasts, Fungal Proteins, Gene Expression Regulation, Humans, Luciferases, Mutation, Promoter Regions, Genetic, Recombinant Fusion Proteins, Regulatory Sequences, Nucleic Acid, Syndrome, Transcription Factors, Transcription, Genetic, Transfection, Ulna, 3T3 Cells, Cellular Senescence, Limb Deformities, Congenital, T-Box Domain Proteins, Saccharomyces cerevisiae Proteins, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks