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 an...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2009-03-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-75046 |
| _version_ | 1797704741496553472 |
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| author | Namık Özbek |
| author_facet | Namık Özbek |
| author_sort | Namık Özbek |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:24:54Z |
| format | Article |
| id | doaj.art-94f59d1c42754963b088e8bd49f1221b |
| institution | Directory Open Access Journal |
| issn | 1300-7777 1308-5263 |
| language | English |
| last_indexed | 2024-03-12T05:24:54Z |
| publishDate | 2009-03-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-94f59d1c42754963b088e8bd49f1221b2023-09-03T07:24:52ZengGalenos Publishing HouseTurkish Journal of Hematology1300-77771308-52632009-03-0126010108New insights into the genetics of congenital neutropeniaNamık ÖzbekSeveral 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.http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-75046Congenital neutropeniamolecular basismyelopoiesisRNA processing |
| spellingShingle | Namık Özbek New insights into the genetics of congenital neutropenia Turkish Journal of Hematology Congenital neutropenia molecular basis myelopoiesis RNA processing |
| title | New insights into the genetics of congenital neutropenia |
| title_full | New insights into the genetics of congenital neutropenia |
| title_fullStr | New insights into the genetics of congenital neutropenia |
| title_full_unstemmed | New insights into the genetics of congenital neutropenia |
| title_short | New insights into the genetics of congenital neutropenia |
| title_sort | new insights into the genetics of congenital neutropenia |
| topic | Congenital neutropenia molecular basis myelopoiesis RNA processing |
| url | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-75046 |
| work_keys_str_mv | AT namıkozbek newinsightsintothegeneticsofcongenitalneutropenia |