TBX3: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''T-box transcription factor TBX3''' is a [[protein]] that in humans is encoded by the ''TBX3'' [[gene]].<ref name="pmid8988164">{{cite journal | vauthors = Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD | title = Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family | journal = Nature Genetics | volume = 15 | issue = 1 | pages = 21–9 | date = Jan 1997 | pmid = 8988164 | pmc =  | doi = 10.1038/ng0197-21 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6926| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_TBX3_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1h6f.
| PDB = {{PDB2|1h6f}}
| Name = T-box 3 (ulnar mammary syndrome)
| HGNCid = 11602
| Symbol = TBX3
| AltSymbols =; TBX3-ISO; UMS; XHL
| OMIM = 601621
| ECnumber = 
| Homologene = 4371
| MGIid = 98495
| GeneAtlas_image1 = PBB_GE_TBX3_219682_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0016564 |text = transcription repressor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007569 |text = cell aging}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0030539 |text = male genitalia development}} {{GNF_GO|id=GO:0030540 |text = female genitalia development}} {{GNF_GO|id=GO:0030879 |text = mammary gland development}} {{GNF_GO|id=GO:0032275 |text = luteinizing hormone secretion}} {{GNF_GO|id=GO:0035117 |text = embryonic arm morphogenesis}} {{GNF_GO|id=GO:0042733 |text = embryonic digit morphogenesis}} {{GNF_GO|id=GO:0045892 |text = negative regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0046884 |text = follicle-stimulating hormone secretion}} {{GNF_GO|id=GO:0048754 |text = branching morphogenesis of a tube}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6926
    | Hs_Ensembl = ENSG00000135111
    | Hs_RefseqProtein = NP_005987
    | Hs_RefseqmRNA = NM_005996
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 12
    | Hs_GenLoc_start = 113592442
    | Hs_GenLoc_end = 113606352
    | Hs_Uniprot = O15119
    | Mm_EntrezGene = 21386
    | Mm_Ensembl = ENSMUSG00000018604
    | Mm_RefseqmRNA = XM_989690
    | Mm_RefseqProtein = XP_994784
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 119931286
    | Mm_GenLoc_end = 119945218
    | Mm_Uniprot = Q3ULL3
  }}
}}
'''T-box 3 (ulnar mammary syndrome)''', also known as '''TBX3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6926| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the [[T-box]]. T-box genes encode [[transcription factor]]s involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause [[ulnar-mammary syndrome]], affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.<ref name="entrez" /> Mutations in ''TBX3'' are implicated in cases of [[breast cancer]].<ref name=nature11412>{{cite journal | vauthors =  | title = Comprehensive molecular portraits of human breast tumours | journal = Nature | volume = 490 | issue = 7418 | pages = 61–70 | date = Oct 2012 | pmid = 23000897 | pmc = 3465532 | doi = 10.1038/nature11412 | url = http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11412.html | publisher = Nature Publishing Group }}</ref>  TBX3 is also responsible for the [[dun gene|dun color]] in horses, but its expression or lack of expression has no deleterious effects on horses, only affecting hair color.<ref>{{Cite web|url=https://www.sciencedaily.com/releases/2015/12/151221133612.htm|title=A Horse of a Different Color: Genetics of camouflage and the dun pattern|website=Science Daily|access-date=June 25, 2016|date=December 21, 2015}}</ref>
{{PBB_Summary
| section_title =
| summary_text = This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6926| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB | title = Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome | journal = Nature Genetics | volume = 16 | issue = 3 | pages = 311–5 | date = Jul 1997 | pmid = 9207801 | doi = 10.1038/ng0797-311 }}
| citations =
* {{cite journal | vauthors = Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB | title = The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome | journal = American Journal of Human Genetics | volume = 64 | issue = 6 | pages = 1550–62 | date = Jun 1999 | pmid = 10330342 | pmc = 1377898 | doi = 10.1086/302417 }}
*{{cite journal  | author=Li QY, Newbury-Ecob RA, Terrett JA, ''et al.'' |title=Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 21-9 |year= 1997 |pmid= 8988164 |doi= 10.1038/ng0197-21 }}
* {{cite journal | vauthors = ((He Ml)), Wen L, Campbell CE, Wu JY, Rao Y | title = Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 18 | pages = 10212–7 | date = Aug 1999 | pmid = 10468588 | pmc = 17868 | doi = 10.1073/pnas.96.18.10212 }}
*{{cite journal | author=Bamshad M, Lin RC, Law DJ, ''et al.'' |title=Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 311-5 |year= 1997 |pmid= 9207801 |doi= 10.1038/ng0797-311 }}
* {{cite journal | vauthors = Carlson H, Ota S, Campbell CE, Hurlin PJ | title = A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome | journal = Human Molecular Genetics | volume = 10 | issue = 21 | pages = 2403–13 | date = Oct 2001 | pmid = 11689487 | doi = 10.1093/hmg/10.21.2403 }}
*{{cite journal | author=Bamshad M, Le T, Watkins WS, ''et al.'' |title=The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1550-62 |year= 1999 |pmid= 10330342 |doi= }}
* {{cite journal | vauthors = Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R | title = TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence | journal = The Journal of Biological Chemistry | volume = 277 | issue = 8 | pages = 6567–72 | date = Feb 2002 | pmid = 11748239 | doi = 10.1074/jbc.M110492200 }}
*{{cite journal | author=He M, Wen L, Campbell CE, ''et al.'' |title=Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 18 |pages= 10212-7 |year= 1999 |pmid= 10468588 |doi= }}
* {{cite journal | vauthors = Lingbeek ME, Jacobs JJ, van Lohuizen M | title = The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator | journal = The Journal of Biological Chemistry | volume = 277 | issue = 29 | pages = 26120–7 | date = Jul 2002 | pmid = 12000749 | doi = 10.1074/jbc.M200403200 }}
*{{cite journal | author=Carlson H, Ota S, Campbell CE, Hurlin PJ |title=A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. |journal=Hum. Mol. Genet. |volume=10 |issue= 21 |pages= 2403-13 |year= 2002 |pmid= 11689487 |doi= }}
* {{cite journal | vauthors = Coll M, Seidman JG, Müller CW | title = Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome | journal = Structure | volume = 10 | issue = 3 | pages = 343–56 | date = Mar 2002 | pmid = 12005433 | doi = 10.1016/S0969-2126(02)00722-0 }}
*{{cite journal | author=Brummelkamp TR, Kortlever RM, Lingbeek M, ''et al.'' |title=TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. |journal=J. Biol. Chem. |volume=277 |issue= 8 |pages= 6567-72 |year= 2002 |pmid= 11748239 |doi= 10.1074/jbc.M110492200 }}
* {{cite journal | vauthors = Carlson H, Ota S, Song Y, Chen Y, Hurlin PJ | title = Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation | journal = Oncogene | volume = 21 | issue = 24 | pages = 3827–35 | date = May 2002 | pmid = 12032820 | doi = 10.1038/sj.onc.1205476 }}
*{{cite journal | author=Lingbeek ME, Jacobs JJ, van Lohuizen M |title=The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator. |journal=J. Biol. Chem. |volume=277 |issue= 29 |pages= 26120-7 |year= 2002 |pmid= 12000749 |doi= 10.1074/jbc.M200403200 }}
* {{cite journal | vauthors = Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N | title = Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development | journal = American Journal of Medical Genetics | volume = 110 | issue = 4 | pages = 365–9 | date = Jul 2002 | pmid = 12116211 | doi = 10.1002/ajmg.10447 }}
*{{cite journal | author=Coll M, Seidman JG, Müller CW |title=Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. |journal=Structure |volume=10 |issue= 3 |pages= 343-56 |year= 2002 |pmid= 12005433 |doi= }}
* {{cite journal | vauthors = Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M | title = Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family | journal = Annales De Génétique | volume = 45 | issue = 4 | pages = 213–7 | year = 2003 | pmid = 12668170 | doi = 10.1016/S0003-3995(02)01144-9 }}
*{{cite journal | author=Carlson H, Ota S, Song Y, ''et al.'' |title=Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. |journal=Oncogene |volume=21 |issue= 24 |pages= 3827-35 |year= 2002 |pmid= 12032820 |doi= 10.1038/sj.onc.1205476 }}
* {{cite journal | vauthors = Fan W, Huang X, Chen C, Gray J, Huang T | title = TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines | journal = Cancer Research | volume = 64 | issue = 15 | pages = 5132–9 | date = Aug 2004 | pmid = 15289316 | doi = 10.1158/0008-5472.CAN-04-0615 }}
*{{cite journal | author=Sasaki G, Ogata T, Ishii T, ''et al.'' |title=Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. |journal=Am. J. Med. Genet. |volume=110 |issue= 4 |pages= 365-9 |year= 2002 |pmid= 12116211 |doi= 10.1002/ajmg.10447 }}
* {{cite journal | vauthors = Lomnytska M, Dubrovska A, Hellman U, Volodko N, Souchelnytskyi S | title = Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients | journal = International Journal of Cancer | volume = 118 | issue = 2 | pages = 412–21 | date = Jan 2006 | pmid = 16049973 | doi = 10.1002/ijc.21332 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Yang L, Cai CL, Lin L, Qyang Y, Chung C, Monteiro RM, Mummery CL, Fishman GI, Cogen A, Evans S | title = Isl1Cre reveals a common Bmp pathway in heart and limb development | journal = Development | volume = 133 | issue = 8 | pages = 1575–85 | date = Apr 2006 | pmid = 16556916 | doi = 10.1242/dev.02322 }}
*{{cite journal  | author=Wollnik B, Kayserili H, Uyguner O, ''et al.'' |title=Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. |journal=Ann. Genet. |volume=45 |issue= 4 |pages= 213-7 |year= 2003 |pmid= 12668170 |doi= }}
* {{cite journal | vauthors = Lee HS, Cho HH, Kim HK, Bae YC, Baik HS, Jung JS | title = Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells | journal = Molecular and Cellular Biochemistry | volume = 296 | issue = 1-2 | pages = 129–36 | date = Feb 2007 | pmid = 16955224 | doi = 10.1007/s11010-006-9306-4 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | date = Nov 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Fan W, Huang X, Chen C, ''et al.'' |title=TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. |journal=Cancer Res. |volume=64 |issue= 15 |pages= 5132-9 |year= 2004 |pmid= 15289316 |doi= 10.1158/0008-5472.CAN-04-0615 }}
* {{cite journal | vauthors = Mommersteeg MT, Hoogaars WM, Prall OW, de Gier-de Vries C, Wiese C, Clout DE, Papaioannou VE, Brown NA, Harvey RP, Moorman AF, Christoffels VM | title = Molecular pathway for the localized formation of the sinoatrial node | journal = Circulation Research | volume = 100 | issue = 3 | pages = 354–62 | date = Feb 2007 | pmid = 17234970 | doi = 10.1161/01.RES.0000258019.74591.b3 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Lomnytska M, Dubrovska A, Hellman U, ''et al.'' |title=Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients. |journal=Int. J. Cancer |volume=118 |issue= 2 |pages= 412-21 |year= 2006 |pmid= 16049973 |doi= 10.1002/ijc.21332 }}
*{{cite journal | author=Yang L, Cai CL, Lin L, ''et al.'' |title=Isl1Cre reveals a common Bmp pathway in heart and limb development. |journal=Development |volume=133 |issue= 8 |pages= 1575-85 |year= 2006 |pmid= 16556916 |doi= 10.1242/dev.02322 }}
*{{cite journal | author=Lee HS, Cho HH, Kim HK, ''et al.'' |title=Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells. |journal=Mol. Cell. Biochem. |volume=296 |issue= 1-2 |pages= 129-36 |year= 2007 |pmid= 16955224 |doi= 10.1007/s11010-006-9306-4 }}
*{{cite journal | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Mommersteeg MT, Hoogaars WM, Prall OW, ''et al.'' |title=Molecular pathway for the localized formation of the sinoatrial node. |journal=Circ. Res. |volume=100 |issue= 3 |pages= 354-62 |year= 2007 |pmid= 17234970 |doi= 10.1161/01.RES.0000258019.74591.b3 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* {{MeshName|TBX3+protein,+human}}
 
{{PDB Gallery|geneid=6926}}
{{Transcription factors|g4}}
 
[[Category:Transcription factors]]
 
 
{{gene-12-stub}}

Latest revision as of 22:07, 25 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

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Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.[1][2]

Function

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.[2] Mutations in TBX3 are implicated in cases of breast cancer.[3] TBX3 is also responsible for the dun color in horses, but its expression or lack of expression has no deleterious effects on horses, only affecting hair color.[4]

References

  1. ↑ Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (Jan 1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nature Genetics. 15 (1): 21–9. doi:10.1038/ng0197-21. PMID 8988164.
  2. ↑ 2.0 2.1 "Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)".
  3. ↑ "Comprehensive molecular portraits of human breast tumours". Nature. Nature Publishing Group. 490 (7418): 61–70. Oct 2012. doi:10.1038/nature11412. PMC 3465532. PMID 23000897.
  4. ↑ "A Horse of a Different Color: Genetics of camouflage and the dun pattern". Science Daily. December 21, 2015. Retrieved June 25, 2016.

Further reading

  • Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB (Jul 1997). "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome". Nature Genetics. 16 (3): 311–5. doi:10.1038/ng0797-311. PMID 9207801.
  • Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB (Jun 1999). "The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome". American Journal of Human Genetics. 64 (6): 1550–62. doi:10.1086/302417. PMC 1377898. PMID 10330342.
  • He Ml, Wen L, Campbell CE, Wu JY, Rao Y (Aug 1999). "Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome". Proceedings of the National Academy of Sciences of the United States of America. 96 (18): 10212–7. doi:10.1073/pnas.96.18.10212. PMC 17868. PMID 10468588.
  • Carlson H, Ota S, Campbell CE, Hurlin PJ (Oct 2001). "A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome". Human Molecular Genetics. 10 (21): 2403–13. doi:10.1093/hmg/10.21.2403. PMID 11689487.
  • Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R (Feb 2002). "TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence". The Journal of Biological Chemistry. 277 (8): 6567–72. doi:10.1074/jbc.M110492200. PMID 11748239.
  • Lingbeek ME, Jacobs JJ, van Lohuizen M (Jul 2002). "The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator". The Journal of Biological Chemistry. 277 (29): 26120–7. doi:10.1074/jbc.M200403200. PMID 12000749.
  • Coll M, Seidman JG, Müller CW (Mar 2002). "Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome". Structure. 10 (3): 343–56. doi:10.1016/S0969-2126(02)00722-0. PMID 12005433.
  • Carlson H, Ota S, Song Y, Chen Y, Hurlin PJ (May 2002). "Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation". Oncogene. 21 (24): 3827–35. doi:10.1038/sj.onc.1205476. PMID 12032820.
  • Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N (Jul 2002). "Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development". American Journal of Medical Genetics. 110 (4): 365–9. doi:10.1002/ajmg.10447. PMID 12116211.
  • Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M (2003). "Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family". Annales De Génétique. 45 (4): 213–7. doi:10.1016/S0003-3995(02)01144-9. PMID 12668170.
  • Fan W, Huang X, Chen C, Gray J, Huang T (Aug 2004). "TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines". Cancer Research. 64 (15): 5132–9. doi:10.1158/0008-5472.CAN-04-0615. PMID 15289316.
  • Lomnytska M, Dubrovska A, Hellman U, Volodko N, Souchelnytskyi S (Jan 2006). "Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients". International Journal of Cancer. 118 (2): 412–21. doi:10.1002/ijc.21332. PMID 16049973.
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External links


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