BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 21801849)

  • 1. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
    Franco HL; Casasnovas JJ; Leon RG; Friesel R; Ge Y; Desnick RJ; Cadilla CL
    Int J Biochem Cell Biol; 2011 Oct; 43(10):1523-31. PubMed ID: 21801849
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
    Tukel T; Šošić D; Al-Gazali LI; Erazo M; Casasnovas J; Franco HL; Richardson JA; Olson EN; Cadilla CL; Desnick RJ
    Am J Hum Genet; 2010 Aug; 87(2):289-96. PubMed ID: 20691403
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
    Rosti RO; Uyguner ZO; Nazarenko I; Bekerecioglu M; Cadilla CL; Ozgur H; Lee BH; Aggarwal AK; Pehlivan S; Desnick RJ
    Clin Genet; 2015 Nov; 88(5):489-493. PubMed ID: 25410422
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
    Weaver DD; Norby AR; Rosenfeld JA; Proud VK; Spangler BE; Ming JE; Chisholm E; Zackai EH; Lee BH; Edelmann L; Desnick RJ
    Am J Med Genet A; 2015 May; 167A(5):1061-70. PubMed ID: 25728400
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mechanisms of Regulation of the
    Casasnovas-Nieves JJ; Rodríguez Y; Franco HL; Cadilla CL
    Genes (Basel); 2023 Aug; 14(9):. PubMed ID: 37761873
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.
    Girisha KM; Bidchol AM; Sarpangala MK; Satyamoorthy K
    Indian J Pediatr; 2014 Mar; 81(3):302-4. PubMed ID: 24127007
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Setleis syndrome: genetic and clinical findings in a new case with epilepsy.
    Giordano L; Desnick RJ; Molinaro A; Uliana V; Forzano F; Edelmann L; Nazarenko I; Pinelli L; Accorsi P; Faravelli F
    Pediatr Neurol; 2014 Apr; 50(4):389-91. PubMed ID: 24486222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
    Cervantes-Barragán DE; Villarroel CE; Medrano-Hernández A; Durán-McKinster C; Bosch-Canto V; Del-Castillo V; Nazarenko I; Yang A; Desnick RJ
    J Med Genet; 2011 Oct; 48(10):716-20. PubMed ID: 21931173
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
    Crespo NE; Torres-Bracero A; Renta JY; Desnick RJ; Cadilla CL
    Int J Environ Res Public Health; 2021 Feb; 18(4):. PubMed ID: 33669496
    [No Abstract]   [Full Text] [Related]  

  • 10. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
    Marchegiani S; Davis T; Tessadori F; van Haaften G; Brancati F; Hoischen A; Huang H; Valkanas E; Pusey B; Schanze D; Venselaar H; Vulto-van Silfhout AT; Wolfe LA; Tifft CJ; Zerfas PM; Zambruno G; Kariminejad A; Sabbagh-Kermani F; Lee J; Tsokos MG; Lee CC; Ferraz V; da Silva EM; Stevens CA; Roche N; Bartsch O; Farndon P; Bermejo-Sanchez E; Brooks BP; Maduro V; Dallapiccola B; Ramos FJ; Chung HY; Le Caignec C; Martins F; Jacyk WK; Mazzanti L; Brunner HG; Bakkers J; Lin S; Malicdan MC; Boerkoel CF; Gahl WA; de Vries BB; van Haelst MM; Zenker M; Markello TC
    Am J Hum Genet; 2015 Jul; 97(1):99-110. PubMed ID: 26119818
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Twist2 amplification in rhabdomyosarcoma represses myogenesis and promotes oncogenesis by redirecting MyoD DNA binding.
    Li S; Chen K; Zhang Y; Barnes SD; Jaichander P; Zheng Y; Hassan M; Malladi VS; Skapek SX; Xu L; Bassel-Duby R; Olson EN; Liu N
    Genes Dev; 2019 Jun; 33(11-12):626-640. PubMed ID: 30975722
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
    Lee BH; Kasparis C; Chen B; Mei H; Edelmann L; Moss C; Weaver DD; Desnick RJ
    J Hum Genet; 2015 Nov; 60(11):717-22. PubMed ID: 26311541
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biological function and molecular mechanism of Twist2.
    Zhao CX; Yang Z
    Yi Chuan; 2015 Jan; 37(1):17-24. PubMed ID: 25608809
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Twist1- and Twist2-haploinsufficiency results in reduced bone formation.
    Huang Y; Meng T; Wang S; Zhang H; Mues G; Qin C; Feng JQ; D'Souza RN; Lu Y
    PLoS One; 2014; 9(6):e99331. PubMed ID: 24971743
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants.
    Maia AM; da Silva JH; Mencalha AL; Caffarena ER; Abdelhay E
    BMC Bioinformatics; 2012 Jul; 13():184. PubMed ID: 22839202
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
    Kim S; Twigg SRF; Scanlon VA; Chandra A; Hansen TJ; Alsubait A; Fenwick AL; McGowan SJ; Lord H; Lester T; Sweeney E; Weber A; Cox H; Wilkie AOM; Golden A; Corsi AK
    Hum Mol Genet; 2017 Jun; 26(11):2118-2132. PubMed ID: 28369379
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mechanism for the regulation of osteoblast differentiation: transcription of periostin, a member of the fasciclin I family, is regulated by the bHLH transcription factor, twist.
    Oshima A; Tanabe H; Yan T; Lowe GN; Glackin CA; Kudo A
    J Cell Biochem; 2002; 86(4):792-804. PubMed ID: 12210745
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Oxidative stress drives disulfide bond formation between basic helix-loop-helix transcription factors.
    Danciu TE; Whitman M
    J Cell Biochem; 2010 Feb; 109(2):417-24. PubMed ID: 19950203
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.
    Ayaz A; Yalcintepe S; Ozalp Yuregir O; Sahin Y; Ozer A; Eser M; Celik U
    Clin Dysmorphol; 2017 Apr; 26(2):128-131. PubMed ID: 27750268
    [No Abstract]   [Full Text] [Related]  

  • 20. Periostin induces epithelial‑to‑mesenchymal transition via the integrin α5β1/TWIST‑2 axis in cholangiocarcinoma.
    Sonongbua J; Siritungyong S; Thongchot S; Kamolhan T; Utispan K; Thuwajit P; Pongpaibul A; Wongkham S; Thuwajit C
    Oncol Rep; 2020 Apr; 43(4):1147-1158. PubMed ID: 32020235
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.