Showing items related by title, author, creator and subject.

• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice 

  Rainger, J.; van Beusekom, E.; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Mégarbané, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; van Bokhoven, H.; FitzPatrick, D.R. (Public Library of Science, 2011)

  Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity ...
• Utility of serum DNA and pyrosequencing for the detection of EGFR mutations in non-small cell lung cancer 

  Akca, H.; Demiray, A.; Yaren, A.; Bir, F.; Koseler, A.; Iwakawa, R.; Bagci, G.; Yokota, J. (2013)

  Mutations in the EGFR gene are critical determinants of treatment with EGFR tyrosine kinase inhibitors (TKIs) for non-small cell lung cancer (NSCLC) patients. DNA isolation from tumor samples usually requires surgery; ...
• Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition 

  Ogi, H.; Goto, G.H.; Ghosh, A.; Zencir, Sevil; Henry, E.; Sugimoto, K. (American Society for Cell Biology, 2015)

  Two large phosphatidylinositol 3-kinase-related protein kinases (PIKKs), ATM and ATR, play a central role in the DNA damage response pathway. PIKKs contain a highly conserved extreme C-terminus called the FRAP-ATM-TRRAP-C-terminal ...