New insights into the genetics of congenital neutropenia
Turkish Journal of Hematology, cilt.26, sa.1, ss.1-8, 2009 (Scopus, TRDizin)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 26 Sayı: 1
- Basım Tarihi: 2009
- Dergi Adı: Turkish Journal of Hematology
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.1-8
- Anahtar Kelimeler: Congenital neutropenia, molecular basis, myelopoiesis, RNA processing
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
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.