Twist transcription factor

Twist transcription factor is a basic-helix-loop-helix transcription factor associated with Saethre-Chotzen syndrome.

PBB_Summary
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summary_text = Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.cite web | title = Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7291| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Seto ML, Lee SJ, Sze RW, Cunningham ML |title=Another TWIST on Baller-Gerold syndrome. |journal=Am. J. Med. Genet. |volume=104 |issue= 4 |pages= 323–30 |year= 2002 |pmid= 11754069 |doi=
*cite journal | author=Brueton LA, van Herwerden L, Chotai KA, Winter RM |title=The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. |journal=J. Med. Genet. |volume=29 |issue= 10 |pages= 681–5 |year= 1992 |pmid= 1433226 |doi=
*cite journal | author=Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM |title=Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. |journal=Clin. Genet. |volume=19 |issue= 6 |pages= 456–61 |year= 1982 |pmid= 7296937 |doi=
*cite journal | author=Rose CS, King AA, Summers D, "et al." |title=Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. |journal=Hum. Mol. Genet. |volume=3 |issue= 8 |pages= 1405–8 |year= 1995 |pmid= 7987323 |doi=
*cite journal | author=Maw M, Kar B, Biswas J, "et al." |title=Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 2049–54 |year= 1997 |pmid= 8968762 |doi=
*cite journal | author=Howard TD, Paznekas WA, Green ED, "et al." |title=Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 36–41 |year= 1997 |pmid= 8988166 |doi= 10.1038/ng0197-36
*cite journal | author=el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, "et al." |title=Mutations of the TWIST gene in the Saethre-Chotzen syndrome. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 42–6 |year= 1997 |pmid= 8988167 |doi= 10.1038/ng0197-42
*cite journal | author=Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, "et al." |title=The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart. |journal=Mamm. Genome |volume=7 |issue= 12 |pages= 915–7 |year= 1997 |pmid= 8995765 |doi=
*cite journal | author=Wang SM, Coljee VW, Pignolo RJ, "et al." |title=Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues. |journal=Gene |volume=187 |issue= 1 |pages= 83–92 |year= 1997 |pmid= 9073070 |doi=
*cite journal | author=Krebs I, Weis I, Hudler M, "et al." |title=Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 7 |pages= 1079–86 |year= 1997 |pmid= 9215678 |doi=
*cite journal | author=Rose CS, Patel P, Reardon W, "et al." |title=The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1369–73 |year= 1997 |pmid= 9259286 |doi=
*cite journal | author=Hamamori Y, Wu HY, Sartorelli V, Kedes L |title=The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist. |journal=Mol. Cell. Biol. |volume=17 |issue= 11 |pages= 6563–73 |year= 1997 |pmid= 9343420 |doi=
*cite journal | author=Gripp KW, Stolle CA, Celle L, "et al." |title=TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. |journal=Am. J. Med. Genet. |volume=82 |issue= 2 |pages= 170–6 |year= 1999 |pmid= 9934984 |doi=
*cite journal | author=Hamamori Y, Sartorelli V, Ogryzko V, "et al." |title=Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A. |journal=Cell |volume=96 |issue= 3 |pages= 405–13 |year= 1999 |pmid= 10025406 |doi=
*cite journal | author=Kunz J, Hudler M, Fritz B |title=Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. |journal=J. Med. Genet. |volume=36 |issue= 8 |pages= 650–2 |year= 1999 |pmid= 10465122 |doi=
*cite journal | author=Maestro R, Dei Tos AP, Hamamori Y, "et al." |title=Twist is a potential oncogene that inhibits apoptosis. |journal=Genes Dev. |volume=13 |issue= 17 |pages= 2207–17 |year= 1999 |pmid= 10485844 |doi=
*cite journal | author=El Ghouzzi V, Legeai-Mallet L, Aresta S, "et al." |title=Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. |journal=Hum. Mol. Genet. |volume=9 |issue= 5 |pages= 813–9 |year= 2000 |pmid= 10749989 |doi=
*cite journal | author=Lee MS, Lowe G, Flanagan S, "et al." |title=Human Dermo-1 has attributes similar to twist in early bone development. |journal=Bone |volume=27 |issue= 5 |pages= 591–602 |year= 2000 |pmid= 11062344 |doi=
*cite journal | author=Dollfus H, Kumaramanickavel G, Biswas P, "et al." |title=Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. |journal=J. Med. Genet. |volume=38 |issue= 7 |pages= 470–2 |year= 2001 |pmid= 11474656 |doi=
*cite journal | author=Elanko N, Sibbring JS, Metcalfe KA, "et al." |title=A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. |journal=Hum. Mutat. |volume=18 |issue= 6 |pages= 535–41 |year= 2002 |pmid= 11748846 |doi= 10.1002/humu.1230

External links

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