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Diamond Blackfan anemia stem cells fail to repopulate erythropoiesis in NOD/SCID mice
Diamond Blackfan anemia, Hematopoiesis...
ED - Fyziologie
- 2003 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Diamond-Blackfan anaemia in the Czech Republic
In cooperation with pediatric hematologists from the Czech Republic the Diamond-Blackfan anemia (DBA) registry was created.
FG - Pediatrie
- 2000 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia.
In search of a gene responsible for Diamond-Blackfan anemia (DBA) we sequenced cDNA for ribosomal proteins RPS3a, S13, S16, and S24 in 14 patients and found no mutations. We conclude that these four ribosomal proteins important for eIF-2 bin...
FD - Onkologie a hematologie
- 2001 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
The ribosomal basis of diamond-blackfan anemia: mutation and database update
Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all...
FD - Onkologie a hematologie
- 2010 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Elevated thrombopoietin levels and alterations in the sequence of its receptor, c-Mpl, in patients with Diamond-Blackfan anemia.
In the study of the possible thrombopoietin (TPO)-c-Mpl pathway involvement in the pathogenesis of Diamond-Blackfan anemia, repeatedly increased serum TPO levels were identified in 7/14 patients and changes in c-mpl sequence in 3/14 patients...
FD - Onkologie a hematologie
- 2004 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Impaired proliferation and translation in Diamond-Blackfan anemia patients.
Proliferation and translation are significantly lower in DBA patients irrespective of mutation in RPS19. We conclude that hypoproliferation and significantly lower translation might be the mechanisms underlying DBA pathogenesis......
FD - Onkologie a hematologie
- 2004 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
The effect of expression of ribosomal protein S19 mutations found in Diamond-Blackfan anemia patients on K562 cell line.
The influence of ribosomal protein S19 mutations found in DBA patients on translation and proliferation rate of K562 cell line was studied.
FD - Onkologie a hematologie
- 2003 •
- D
Rok uplatnění
D - Stať ve sborníku
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
Currently two genes are associated with the Diamond-Blackfan anemia (DBA) phenotype ? the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in 1.4% of DBA patients. Here we report the identification of a mutation in...
FD - Onkologie a hematologie
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes
Diamond-blackfan anemie je vzácné rozené onemocnění, které je chrakterizováno selekktivním defektem erytropoesy.Je diskutován potenciální model DBA patogeneze s ohledem na mutace RPS19....
EB - Genetika a molekulární biologie
- 2000 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency
Diamond-Blackfan anemia (DBA) is a rare congenital red cell aplasia associated with mutations in ribosomal proteins (RP) in 49-71% of cases. DBA is a clinically heterogeneous disorder with one-third of patients developing transfusion-acquire...
FD - Onkologie a hematologie
- 2014 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
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