Now showing items 1-4 of 4

    • Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair 

      Dal, G. M.; Ergüner, B.; Saǧıroǧlu, M. S.; Yüksel, B.; Onat, O. E.; Alkan C.; Özçelik, T. (B M J Group, 2014)
      Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de ...
    • Histone H3.3 regulates mitotic progression in mouse embryonic fibroblasts 

      Ors, A.; Papin, C.; Favier, B.; Roulland, Y.; Dalkara, D.; Ozturk, M.; Hamiche, A.; Dimitrov, S.; Padmanabhan, K. (Canadian Science Publishing, 2017)
      H3.3 is a histone variant that marks transcription start sites as well as telomeres and heterochromatic sites on the genome. The presence of H3.3 is thought to positively correlate with the transcriptional status of its ...
    • p53 mutation with frequent novel codons but not a mutator phenotype in BRCA1-and BRCA2-associated breast tumours 

      Crook, T.; Brooks, L. A.; Crossland, S.; Osin, P.; Barker, K. T.; Waller, J.; Philp, E.; Smith, P. D.; Yulug, I.; Peto, J.; Parker, G.; Allday, M. J.; Crompton, M. R.; Gusterson, B. A. (Nature Publishing Group, 1998)
      The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours. p53 expression was detected in 20/26 (77%) BRCA1-, ...
    • Recessive LAMC3 mutations cause malformations of occipital cortical development 

      Barak, T.; Kwan, K. Y.; Louvi, A.; Demirbilek, V.; Saygi, S.; Tüysüz, B.; Choi, M.; Boyaci, H.; Doerschner, K.; Zhu, Y.; Kaymakçalan, H.; Yilmaz, S.; Bakircioglu, M.; Çağlayan, A. O.; Öztürk, A.K.; Yasuno, K.; Brunken W. J.; Atalar, E.; Yalçnkaya, C.; Dinçer, A.; Bronen, R. A.; Mane, S.; Özçelik, T.; Lifton, R. P.; Šestan, N.; Bilgüvar, K.; Günel, M. (Nature Publishing Group, 2011-05-15)
      The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral ...