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Accueil Tous les numéros Volume 17 / Numéro 12 (Décembre 2001) Med Sci (Paris), 17 12 (2001) 1281-1288 Références
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Numéro
Med Sci (Paris)
Volume 17, Numéro 12, Décembre 2001
Page(s) 1281 - 1288
Section Articles de Synthèse
DOI https://doi.org/10.1051/medsci/200117121281
Publié en ligne 15 décembre 2001
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  2. Howard TD, Paznekas WA, Green ED, et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997; 15 : 36–41.
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  4. Bourgeois P, Bolcato-Bellemin AL, Danse JM, et al. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 1998; 7 : 945–57.
  5. El Ghouzzi V, Lajeunie E, Le Merrer M, et al. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet 1999; 7 : 27–33.
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  10. Yousfi M, Lasmoles F, Lomri A, Delannoy P, Marie PJ. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. J Clin Invest 2001; 107 : 1153–61.
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  12. Johnson D, Iseki S, Wilkie AO, Morriss-Kay GM. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for twist in suture initiation and biogenesis. Mech Dev 2000; 91 : 341–5.
  13. Iseki S, Wilkie AO, Morriss-Kay GM. Fgfr1 and Fgfr2 have distinct differentiation-and proliferation-related roles in the developing mouse skull vault. Development 1999; 126 : 5611–20.
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  24. Wilkie AO, Tang Z, Elanko N, et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 2000; 24 : 387–90.
  25. Satokata I, Ma L, Ohshima H, et al. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 2000; 24 : 391–5.
  26. Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000; 37 : 916–20.
  27. Mavrogiannis LA, Antonopoulou I, Baxova A, et al. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet. 2001; 27 : 17–8.
  28. Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89 : 773–9.
  29. Yousfi M, Marie PJ, Lasmoles F. Deletion of the basic helix-loop-helix domain in TWIST increases apoptosis in osteoblasts in the Saethre-Chotzen craniosynostosis. ASBMR, 22nd annual meeting, 2000. Toronto, Canada : ASBMR Abstract book, 2000.
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