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New insights into the genetics of congenital neutropenia
Several congenital disorders may cause neutropenia. The recent advances in the field of molecular biology have facilitated our knowledge concerning pathophysiological mechanisms leading to these disorders. The molecular basis of disorders with defective myelopoiesis (severe congenital neutropenia and cyclic neutropenia) and disorders due to defective RNA processing (Shwachman Diamond syndrome and cartilage hair hypoplasia) are the two congenital neutropenia syndromes that are addressed in this review. Molecular defects defined by means of these disorders are very important for our understanding of the cause of the disorders as well as some unknown molecular mechanisms.

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Authors: Namık Özbek

Keywords: Konjenital nötropeni, moleküler temeller, miyelopoezis, RNA işlenmesi

  • Year: 2009
  • Number: 1
  • Referance No: 75046
  • Figure 1. Schematic representation of genetic interactions in SCN. Except for Gfi1, all the arrows represent activating effect on target genes.
  • Figure 2. Mechanism of mutagenesis in the SBDS gene. The two adjacent boxes represent each strand of DNA of SBDS and SBDSP. After faulty recombination of SBDS and SBDSP strands, conversion of some nucleotides from pseudogene to SBDS may occur.
  • Figure 3. Schematic representation of rRNA processing. In normal circumstances, a precursor rRNA is cleaved into three parts by means of SnoRNAs, such as SBDS protein and RMRP. Defect in this process due to mutations in SnoRNAs causes disorders frequently affecting bone and bone marrow.

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