TBX3

TBX3

T-box 3 (ulnar mammary syndrome), also known as TBX3, is a human gene.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 = ]

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.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 = ]

References

Further reading

PBB_Further_reading
citations =
*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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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

External links

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  • T-box — Pfam box Symbol = T box Name = T box width = caption = Crystallographic structure of the TBX3 protein dimer (cyan and green) complexed with DNA (brown) based on the PDB|1h6f coordinates. Pfam= PF00907 InterPro= IPR001699 SMART= PROSITE = PS50252… …   Wikipedia

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  • Syndrome de Holt-Oram — Décrit en 1960[1], le syndrome de Holt Oram est l’association de malformations cardiaques de gravité variable avec des anomalies des membres supérieurs. Cette maladie est en rapport avec une mutation du gène TBX5 localisé sur le chromosome 12[2] …   Wikipédia en Français

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