Citations for
1NOTCH1, TWIST1
Notch inhibits chondrogenic differentiation of mesenchymal progenitor cells by targeting Twist1.
Tian Y, Xu Y, Fu Q, Chang M, Wang Y, Shang X, Wan C, Marymont JV, Dong Y.
Mol Cell Endocrinol ol Cell Endocrinol. 2015 Jan 14. pii: S0303-7207(15)00019-2. doi: 10.1016/j.mce.2015.01.015. [Epub ahead of print] 2015
2TWIST1
Different levels of twist1 regulate skin tumor initiation, stemness, and progression.
Beck B, Lapouge G, Rorive S, Drogat B, Desaedelaere K, Delafaille S, Dubois C, Salmon I, Willekens K, Marine JC, Blanpain C.
Cell Stem Cell 16(1):67-79. doi: 10.1016/j.stem.2014.12.002. 2015
3NOD2, TWIST1, TWIST2
Twist1 and Twist2 Contribute to Cytokine Downregulation following Chronic NOD2 Stimulation of Human Macrophages through the Coordinated Regulation of Transcriptional Repressors and Activators.
Zheng S, Hedl M, Abraham C.
J Immunol 195(1):217-26. doi: 10.4049/jimmunol.1402808. Epub 2015 May 27. 2015
4TWIST1, TWIST2
TWIST1 and TWIST2 regulate glycogen storage and inflammatory genes in skeletal muscle.
Mudry JM, Massart J, Szekeres FL, Krook A.
J Endocrinol 224(3):303-13. doi: 10.1530/JOE-14-0474. 2015
5CLDN1, CLDN4, TWIST1, ZEB1
A survey of zeb1, twist and claudin 1 and 4 expression during placental development and disease.
Pirinen E, Soini Y.
APMIS 122(6):530-8. doi: 10.1111/apm.12187. Epub 2013 Dec 5. 2014
6SQSTM1, TWIST1
Regulation of cell proliferation and migration by p62 through stabilization of Twist1.
Qiang L, Zhao B, Ming M, Wang N, He TC, Hwang S, Thorburn A, He YY.
Proc Natl Acad Sci U S A 111(25):9241-6. doi: 10.1073/pnas.1322913111. Epub 2014 Jun 9. 2014
7SOX5, TWIST1
Sox5 induces epithelial to mesenchymal transition by transactivation of Twist1.
Pei XH, Lv XQ, Li HX.
Biochem Biophys Res Commun 446(1):322-7. doi: 10.1016/j.bbrc.2014.02.109. Epub 2014 Mar 4. 2014
8TWIST1
Twist1-induced dissemination preserves epithelial identity and requires E-cadherin.
Shamir ER, Pappalardo E, Jorgens DM, Coutinho K, Tsai WT, Aziz K, Auer M, Tran PT, Bader JS, Ewald AJ.
J Cell Biol 204(5):839-56. doi: 10.1083/jcb.201306088. 2014
9HDAC5, TWIST1
HDAC5 promotes osteosarcoma progression by upregulation of Twist 1 expression.
Chen J, Xia J, Yu YL, Wang SQ, Wei YB, Chen FY, Huang GY, Shi JS.
Tumour Biol 35(2):1383-7. doi: 10.1007/s13277-013-1189-x. Epub 2013 Oct 5. 2014
10MYOG, TWIST1
Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin.
Mastroyiannopoulos NP, Antoniou AA, Koutsoulidou A, Uney JB, Phylactou LA.
Biosci Rep 33(6). pii: e00083. doi: 10.1042/BSR20130068. 2013
11TFF3, TWIST1
Trefoil factor 3 peptide regulates migration via a Twist-dependent pathway in gastric cell.
Zheng Q, Gao J, Li H, Guo W, Mao Q, Gao E, Zhu YQ.
Biochem Biophys Res Commun 438(1):6-12. doi: 10.1016/j.bbrc.2013.06.115. Epub 2013 Jul 9. 2013
12PHOX2B, SOX10, TWIST1
Twist1 controls a cell-specification switch governing cell fate decisions within the cardiac neural crest.
Vincentz JW, Firulli BA, Lin A, Spicer DB, Howard MJ, Firulli AB.
PLoS Genet 9(3):e1003405. doi: 10.1371/journal.pgen.1003405. Epub 2013 Mar 21. 2013
13TCF12, TWIST1
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO.
Nat Genet 45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Erratum in: Nat Genet. 2013 Oct;45(10):1261. 2013
14CCL2, TWIST1
Twist1 induces CCL2 and recruits macrophages to promote angiogenesis.
Low-Marchelli JM, Ardi VC, Vizcarra EA, van Rooijen N, Quigley JP, Yang J.
Cancer Res 73(2):662-71. doi: 10.1158/0008-5472.CAN-12-0653. 2013
15GPS2, NCOR2, PPARG, TWIST1
SMRT-GPS2 corepressor pathway dysregulation coincides with obesity-linked adipocyte inflammation.
Toubal A, Clément K, Fan R, Ancel P, Pelloux V, Rouault C, Veyrie N, Hartemann A, Treuter E, Venteclef N.
J Clin Invest 123(1):362-79. doi: 10.1172/JCI64052. Epub 2012 Dec 10. 2013
16SETD8, TWIST1
SET8 promotes epithelial-mesenchymal transition and confers TWIST dual transcriptional activities.
Yang F, Sun L, Li Q, Han X, Lei L, Zhang H, Shang Y.
EMBO J 31(1):110-23. doi: 10.1038/emboj.2011.364. Epub 2011 Oct 7. 2012
17IFNG, RUNX3, TWIST1
Twist1 regulates Ifng expression in Th1 cells by interfering with Runx3 function.
Pham D, Vincentz JW, Firulli AB, Kaplan MH.
J Immunol 189(2):832-40. doi: 10.4049/jimmunol.1200854. Epub 2012 Jun 8. 2012
18CLDN4, TWIST1
Twist1 causes the transcriptional repression of claudin-4 with prognostic significance in esophageal cancer.
Lee KW, Lee NK, Kim JH, Kang MS, Yoo HY, Kim HH, Um SH, Kim SH.
Biochem Biophys Res Commun 423(3):454-60. doi: 10.1016/j.bbrc.2012.05.140. Epub 2012 Jun 2. 2012
19SOX9, TWIST1
Twist1 mediates repression of chondrogenesis by β-catenin to promote cranial bone progenitor specification.
Goodnough LH, Chang AT, Treloar C, Yang J, Scacheri PC, Atit RP.
Development 139(23):4428-38. doi: 10.1242/dev.081679. Epub 2012 Oct 24. 2012
20ATF4, TWIST1, TWIST2
The basic helix loop helix transcription factor Twist1 is a novel regulator of ATF4 in osteoblasts.
Danciu TE, Li Y, Koh A, Xiao G, McCauley LK, Franceschi RT.
J Cell Biochem 113(1):70-9. doi: 10.1002/jcb.23329. 2012
21SNAI2, TWIST1
Snail2 is an essential mediator of Twist1-induced epithelial mesenchymal transition and metastasis.
Casas E, Kim J, Bendesky A, Ohno-Machado L, Wolfe CJ, Yang J.
Cancer Res 71(1):245-54. 2011
22DEL7P21, TWIST1
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D.
Eur J Med Genet 54(3):256-61. Epub 2011 Feb 17. 2011
23TWIST1
The role of TWIST as a regulator in giant cell tumor of bone.
Singh S, Mak IW, Cowan RW, Turcotte R, Singh G, Ghert M.
J Cell Biochem 112(9):2287-95. doi: 10.1002/jcb.23149. 2011
24SNAI1, TWIST1, ZEB1
Functional cooperation between Snail1 and twist in the regulation of ZEB1 expression during epithelial to mesenchymal transition.
Dave N, Guaita-Esteruelas S, Gutarra S, Frias À, Beltran M, Peiró S, de Herreros AG.
J Biol Chem 286(14):12024-32. doi: 10.1074/jbc.M110.168625. Epub 2011 Feb 12. 2011
25TWIST1
TWIST1 hypermethylation is observed frequently in colorectal tumors and its overexpression is associated with unfavorable outcomes in patients with colorectal cancer.
Okada T, Suehiro Y, Ueno K, Mitomori S, Kaneko S, Nishioka M, Okayama N, Sakai K, Higaki S, Hazama S, Hirata H, Sakaida I, Oka M, Hinoda Y.
Genes Chromosomes Cancer 49(5):452-62. 2010
26TWIST1
A possible inflammatory role of twist1 in human white adipocytes.
Pettersson AT, Laurencikiene J, Mejhert N, Näslund E, Bouloumié A, Dahlman I, Arner P, Rydén M.
Diabetes 59(3):564-71. Epub 2009 Dec 10. 2010
27BMI1, TWIST1
Bmi1 is essential in Twist1-induced epithelial-mesenchymal transition.
Yang MH, Hsu DS, Wang HW, Wang HJ, Lan HY, Yang WH, Huang CH, Kao SY, Tzeng CH, Tai SK, Chang SY, Lee OK, Wu KJ.
Nat Cell Biol 12(10):982-92. Epub 2010 Sep 5. 2010
28TIMP1, TWIST1
Negative regulation of TIMP1 is mediated by transcription factor TWIST1.
Okamura H, Yoshida K, Haneji T.
Int J Oncol 35(1):181-6. 2009
29TWIST1
Gene expression profiling of pulmonary fibrosis identifies Twist1 as an antiapoptotic molecular "rectifier" of growth factor signaling.
Bridges RS, Kass D, Loh K, Glackin C, Borczuk AC, Greenberg S.
Am J Pathol 175(6):2351-61. Epub 2009 Nov 5. 2009
30TWIST1
Twist: a regulator of epithelial-mesenchymal transition in lung fibrosis.
Pozharskaya V, Torres-González E, Rojas M, Gal A, Amin M, Dollard S, Roman J, Stecenko AA, Mora AL.
PLoS One 4(10):e7559. 2009
31TWIST1
Characterization of sequences in human TWIST required for nuclear localization.
Singh S, Gramolini AO.
BMC Cell Biol 10:47. 2009
32TWIST1, TWIST2
TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment.
Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S.
Stem Cells 27(10):2457-68.PMID: 19609939 2009
33FGF18, TWIST1, WDR5
Perichondrial expression of Wdr5 regulates chondrocyte proliferation and differentiation.
Gori F, Zhu ED, Demay MB.
Dev Biol 329(1):36-43. doi: 10.1016/j.ydbio.2009.02.006. Epub 2009 Feb 13. 2009
34HIF1A, TWIST1
Direct regulation of TWIST by HIF-1alpha promotes metastasis.
Yang MH, Wu MZ, Chiou SH, Chen PM, Chang SY, Liu CJ, Teng SC, Wu KJ.
Nat Cell Biol 10(3):295-305. Epub 2008 Feb 24. 2008
35MSX2, TWIST1
Up-regulation of MSX2 enhances the malignant phenotype and is associated with twist 1 expression in human pancreatic cancer cells.
Satoh K, Hamada S, Kimura K, Kanno A, Hirota M, Umino J, Fujibuchi W, Masamune A, Tanaka N, Miura K, Egawa S, Motoi F, Unno M, Vonderhaar BK, Shimosegawa T.
Am J Pathol 172(4):926-39. Epub 2008 Mar 18. 2008
36EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RAB23, TWIST1
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E.
Front Oral Biol 12:107-43. Review. 2008
37BCL2, DLEC1, HOXA1, HOXA10, KL, NR3C1, SEZ6L, SFRP4, SFRP5, SMAD9, TWIST1
DNA methylation profiles of gastric carcinoma characterized by quantitative DNA methylation analysis.
Kang GH, Lee S, Cho NY, Gandamihardja T, Long TI, Weisenberger DJ, Campan M, Laird PW.
Lab Invest 88(2):161-70. Epub 2007 Dec 24. 2008
38TWIST1
Twist is required for thrombin-induced tumor angiogenesis and growth.
Hu L, Roth JM, Brooks P, Ibrahim S, Karpatkin S.
Cancer Res 68(11):4296-302. 2008
39EPAS1, TWIST1
The TWIST1 oncogene is a direct target of hypoxia-inducible factor-2alpha.
Gort EH, van Haaften G, Verlaan I, Groot AJ, Plasterk RH, Shvarts A, Suijkerbuijk KP, van Laar T, van der Wall E, Raman V, van Diest PJ, Tijsterman M, Vooijs M.
Oncogene 27(11):1501-10. Epub 2007 Sep 17.PMID: 17873906 2008
40TWIST1, ISCC
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML.
Am J Med Genet A 143(7):678-86. 2007
41TWIST1, ACS3
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.
Sahlin P, Windh P, Lauritzen C, Emanuelsson M, Gršnberg H, Stenman G.
Genes Chromosomes Cancer 46(7):656-60. 2007
42MMP9, TIMP1, TWIST1
Identification of a novel 82 kDa proMMP-9 species associated with the surface of leukaemic cells: (auto-)catalytic activation and resistance to inhibition by TIMP-1.
Ries C, Pitsch T, Mentele R, Zahler S, Egea V, Nagase H, Jochum M.
Biochem J 405(3):547-58. 2007
43TWIST1, MSX2, EFNA4
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr.
Hum Mol Genet 15(8):1319-28. Epub 2006 Mar 15. 2006
44FGFR2, FGFR3, TWIST1, EFNB1, CRS, CRS2
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Ven‰ncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.
Am J Med Genet A 140(23):2631-9. Review. 2006
45TWIST1, HAND2, ACS3
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.
Firulli BA, Krawchuk D, Centonze VE, Vargesson N, Virshup DM, Conway SJ, Cserjesi P, Laufer E, Firulli AB.
Nat Genet 37(4):373-81. Epub 2005 Feb 27. 2005
46FGFR1, TWIST1
Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape.
Coussens AK, van Daal A.
Genomics 85(5):563-73. 2005
47TWIST1, FGFR2, ACS3, RUNX2
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
Guenou H, Kaabeche K, Mee SL, Marie PJ.
Hum Mol Genet 14(11):1429-39. Epub 2005 Apr 13. 2005
48TWIST1
TWIST is expressed in human gliomas and promotes invasion.
Elias MC, Tozer KR, Silber JR, Mikheeva S, Deng M, Morrison RS, Manning TC, Silbergeld DL, Glackin CA, Reh TA, Rostomily RC.
Neoplasia 7(9):824-37. 2005
49TWIST1
Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis.
Yang J, Mani SA, Donaher JL, Ramaswamy S, Itzykson RA, Come C, Savagner P, Gitelman I, Richardson A, Weinberg RA.
Cell 117(7):927-39. 2004
50SNAI1, TWIST1, TCF3, CDKN1A
Snail regulates p21(WAF/CIP1) expression in cooperation with E2A and Twist.
Takahashi E, Funato N, Higashihori N, Hata Y, Gridley T, Nakamura M.
Biochem Biophys Res Commun 325(4):1136-44. 2004
51ACS3, TWIST1, ACS1, DEL7P21
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW.
Hum Genet 114(1):68-76. Epub 2003 Sep 25. 2003
52RBNSS, TWIST1
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Cai J, Shoo BA, Sorauf T, Jabs EW.
Clin Genet 64(1):79-82. No abstract available. 2003
53TWIST1
Twist haploinsufficiency in Saethre--Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.
Yousfi M, Lasmoles F, El Ghouzzi V, Marie PJ.
Hum Mol Genet 11(4):359-69. 2002
54FGFR1, FGFR2, FGFR3, MSX2, TWIST1
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
Passos-Bueno MR, Armelin LM, Alonso LG, Neustein I, Sertie AL, Abe K, Pavanello Rde C, Elkis LC, Koiffmann CP.
Am J Med Genet 2002
55FERD3L, TWISTNB, TWISTNBP, DEL7P21, TWIST1
Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
Kosan C, Kunz J.
Cytogenet Genome Res 97(3-4):167-70. 2002
56HIF1A, TWIST1
Assessment of the gene expression profile of differentiated and dedifferentiated human fetal chondrocytes by microarray analysis.
Stokes DG, Liu G, Coimbra IB, Piera-Velazquez S, Crowl RM, Jimenez SA.
Arthritis Rheum 46(2):404-19. 2002
57RUNX1, TWIST1
TWIST inactivation reduces CBFA1/RUNX2 expression and DNA binding to the osteocalcin promoter in osteoblasts.
Yousfi M, Lasmoles F, Marie PJ.
Biochem Biophys Res Commun 297(3):641-4. Erratum in: Biochem Biophys Res Commun. 2003 May 23;305(1):209. 2002
58ACS3, TWIST1, FGFR3
Genetic analysis of patients with the Saethre-Chotzen phenotype.
Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
Am J Med Genet 110(2):136-43. 2002
59BPES2, TWIST1
Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.
Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F.
J Med Genet 38(7):470-2. No abstract available. 2001
60BGS2, TWIST1
Another TWIST on Baller-Gerold syndrome.
Seto ML, Lee SJ, Sze RW, Cunningham ML.
Am J Med Genet 104(4):323-30. Review. 2001
61TWIST1, BGS1
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO.
Hum Mutat 18(6):535-41. 2001
62ACS3, TWIST1, DEL7P21
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA.
Genet Med 3(2):102-8. 2001
63DUP7P, TWIST1
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.
Stankiewicz P, Thiele H, Baldermann C, Kruger A, Giannakudis I, Dorr S, Werner N, Kunz J, Rappold GA, Hansmann I.
Am J Med Genet 103(1):56-62. Review. 2001
64ACS3, BGS2, TWIST1
Mutations in the human TWIST gene.
Gripp KW, Zackai EH, Stolle CA.
Hum Mutat 15(2):150-5. Review 2000
65ACS3, TCF3, TWIST1
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
El Ghouzzi V, Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J.
Hum Mol Genet 9(5):813-9. 2000
66EP300, KAT2B, TWIST1
Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A.
Hamamori Y, et al.
Cell 96 : 405-413. 1999
67TWIST1
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
Ghouzzi V, et al.
Eur J Hum Genet 7(1):27-33. 1999
68ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
Hehr U, et al.
Mol Genet Metab 68(2):139-151. No abstract available 1999
69DEL7P21, TWIST1
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njolstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO.
Am J Hum Genet 63(5):1282-93. 1998
70DEL7P21, TWIST1
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
Zackai EH, Stolle CA.
Am J Hum Genet 63(5):1277-81. Review. No abstract available. 1998
71ACS3, TWIST1
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.
Bourgeois P, et al.
Hum Mol Genet 7 : 945-957. 1998
72ACS3, CRS10, FGFR3, TWIST1
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA, et al.
Am J Hum Genet 62 : 1370-1380. 1998
73TWIST1
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Howard TD, et al.
Nat Genet 15 : 36-41. 1997
74ACS3, TWIST1
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
El Ghouzzi V, et al.
Nat Genet 15 : 42-46. 1997
75TWIST1
Cloning of the human twist gene : its expression is retained in adult mesodermally-derived tissues.
Wang SM, et al.
Gene 187 : 83-92. 1997
76ACS3, TWIST1
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Fuchtbauer EM, Grzeschik KH, Tsuji K, Kunz J.
Hum Mol Genet 6(7):1079-86. 1997
77ACS3, TWIST1, DEL7P21
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.
Hum Mol Genet 6(8):1369-73. 1997
78ACS3, TWIST1
TWIST mutations disrupting the b-HLH domain are specific to Saethre-Chotzen syndrome. (abstr)
El Ghouzzi V, et al.
Am J Hum Genet 61 : A332. 1997
79TWIST1
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.
Bourgeois P, et al.
Mamm Genome 7 : 915-917. 1996