- TBX5 (gene)
T-box 5, also known as TBX5, is a human
gene .cite web | title = Entrez Gene: TBX5 T-box 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6910| 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 gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene.cite web | title = Entrez Gene: TBX5 T-box 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6910| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Simon H |title=T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern. |journal=Cell Tissue Res. |volume=296 |issue= 1 |pages= 57–66 |year= 1999 |pmid= 10199965 |doi=
*cite journal | author=Packham EA, Brook JD |title=T-box genes in human disorders. |journal=Hum. Mol. Genet. |volume=12 Spec No 1 |issue= |pages= R37–44 |year= 2003 |pmid= 12668595 |doi=
*cite journal | author=Terrett JA, Newbury-Ecob R, Cross GS, "et al." |title=Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. |journal=Nat. Genet. |volume=6 |issue= 4 |pages= 401–4 |year= 1994 |pmid= 8054982 |doi= 10.1038/ng0494-401
*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=Basson CT, Bachinsky DR, Lin RC, "et al." |title=Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 30–5 |year= 1997 |pmid= 8988165 |doi= 10.1038/ng0197-30
*cite journal | author=Basson CT, Huang T, Lin RC, "et al." |title=Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 6 |pages= 2919–24 |year= 1999 |pmid= 10077612 |doi=
*cite journal | author=Yang J, Hu D, Xia J, "et al." |title=Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. |journal=Am. J. Med. Genet. |volume=92 |issue= 4 |pages= 237–40 |year= 2000 |pmid= 10842287 |doi=
*cite journal | author=Hatcher CJ, Goldstein MM, Mah CS, "et al." |title=Identification and localization of TBX5 transcription factor during human cardiac morphogenesis. |journal=Dev. Dyn. |volume=219 |issue= 1 |pages= 90–5 |year= 2000 |pmid= 10974675 |doi= 10.1002/1097-0177(200009)219:1<90::AID-DVDY1033>3.0.CO;2-L |doilabel=10.1002/1097-0177(200009)219:190::AID-DVDY10333.0.CO;2-L
*cite journal | author=Hatcher CJ, Kim MS, Mah CS, "et al." |title=TBX5 transcription factor regulates cell proliferation during cardiogenesis. |journal=Dev. Biol. |volume=230 |issue= 2 |pages= 177–88 |year= 2001 |pmid= 11161571 |doi= 10.1006/dbio.2000.0134
*cite journal | author=Cross SJ, Ching YH, Li QY, "et al." |title=The mutation spectrum in Holt-Oram syndrome. |journal=J. Med. Genet. |volume=37 |issue= 10 |pages= 785–7 |year= 2001 |pmid= 11183182 |doi=
*cite journal | author=Hiroi Y, Kudoh S, Monzen K, "et al." |title=Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. |journal=Nat. Genet. |volume=28 |issue= 3 |pages= 276–80 |year= 2001 |pmid= 11431700 |doi= 10.1038/90123
*cite journal | author=Akrami SM, Winter RM, Brook JD, Armour JA |title=Detection of a large TBX5 deletion in a family with Holt-Oram syndrome. |journal=J. Med. Genet. |volume=38 |issue= 12 |pages= E44 |year= 2002 |pmid= 11748310 |doi=
*cite journal | author=He ML, Chen Y, Peng Y, "et al." |title=Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5. |journal=Biochem. Biophys. Res. Commun. |volume=297 |issue= 2 |pages= 185–92 |year= 2002 |pmid= 12237100 |doi=
*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=Fan C, Liu M, Wang Q |title=Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. |journal=J. Biol. Chem. |volume=278 |issue= 10 |pages= 8780–5 |year= 2003 |pmid= 12499378 |doi= 10.1074/jbc.M208120200
*cite journal | author=Garg V, Kathiriya IS, Barnes R, "et al." |title=GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. |journal=Nature |volume=424 |issue= 6947 |pages= 443–7 |year= 2003 |pmid= 12845333 |doi= 10.1038/nature01827
*cite journal | author=Huang T, Lock JE, Marshall AC, "et al." |title=Causes of clinical diversity in human TBX5 mutations. |journal=Cold Spring Harb. Symp. Quant. Biol. |volume=67 |issue= |pages= 115–20 |year= 2003 |pmid= 12858531 |doi=
*cite journal | author=Collavoli A, Hatcher CJ, He J, "et al." |title=TBX5 nuclear localization is mediated by dual cooperative intramolecular signals. |journal=J. Mol. Cell. Cardiol. |volume=35 |issue= 10 |pages= 1191–5 |year= 2004 |pmid= 14519429 |doi=External links
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