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Quoted phrase not found in phrase index: "Diamond-Blackfan anemia 21"
Page 1
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Gianferante MD, et al. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. Haematologica. 2021. PMID: 32241839 Free PMC article.
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. ...After adjusting for multiple tests, a statistically significant association was …
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pat …
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M. Kapralova K, et al. Int J Mol Sci. 2020 Dec 17;21(24):9652. doi: 10.3390/ijms21249652. Int J Mol Sci. 2020. PMID: 33348919 Free PMC article.
Molecular pathophysiology of Diamond-Blackfan anemia (DBA) involves disrupted erythroid-lineage proliferation, differentiation and apoptosis; with the activation of p53 considered as a key component. ...We propose that the extent of oxidative stress and the a …
Molecular pathophysiology of Diamond-Blackfan anemia (DBA) involves disrupted erythroid-lineage proliferation, differen …
The Role of α1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions.
Kristiansson A, Gram M, Flygare J, Hansson SR, Åkerström B, Storry JR. Kristiansson A, et al. Int J Mol Sci. 2020 Sep 30;21(19):7234. doi: 10.3390/ijms21197234. Int J Mol Sci. 2020. PMID: 33008134 Free PMC article. Review.
In addition, in a recently published study, it was observed that mice lacking A1M (A1M-KO) developed a macrocytic anemia phenotype. ...Here, we provide an overview of A1M and its potential therapeutic effect in the context of the following erythropoietic and hemolyt …
In addition, in a recently published study, it was observed that mice lacking A1M (A1M-KO) developed a macrocytic anemia pheno …
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.
Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X. Wan Y, et al. Int J Hematol. 2016 Oct;104(4):430-9. doi: 10.1007/s12185-016-2044-9. Epub 2016 Jun 21. Int J Hematol. 2016. PMID: 27329125
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid progenitors. ...Thirty-four patients received prednisone combined with CsA therapy, and improvement was observed in 20 cases. During foll …
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid prog …
Platelet number and function in Diamond-Blackfan anemia.
Buchanan GR, Alter BP, Holtkamp CA, Walsh EG. Buchanan GR, et al. Pediatrics. 1981 Aug;68(2):238-41. Pediatrics. 1981. PMID: 7267232
Congenital red cell aplasia (Diamond-Blackfan anemia) is occasionally associated with hematologic defects other than a deficiency of red blood cell progenitors, but such alterations have not been well studied. ...Platelet aggregation was normal in all 16 pati …
Congenital red cell aplasia (Diamond-Blackfan anemia) is occasionally associated with hematologic defects other than a …
Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia.
Giri N, Kang E, Tisdale JF, Follman D, Rivera M, Schwartz GN, Kim S, Young NS, Rick ME, Dunbar CE. Giri N, et al. Br J Haematol. 2000 Jan;108(1):167-75. doi: 10.1046/j.1365-2141.2000.01796.x. Br J Haematol. 2000. PMID: 10651740 Free article.
Diamond-Blackfan anaemia (DBA) is a constitutional pure red cell aplasia presenting in early childhood. ...In 21/28 (75%) patients, moderate to severe generalized BM hypoplasia developed, with overall cellularities ranging from 0% to 30%. ...
Diamond-Blackfan anaemia (DBA) is a constitutional pure red cell aplasia presenting in early childhood. ...In 21 …
Successful treatment of Diamond-Blackfan anemia with interleukin 3.
Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ. Gillio AP, et al. Stem Cells. 1993 Jul;11 Suppl 2:123-30. doi: 10.1002/stem.5530110820. Stem Cells. 1993. PMID: 7691318 Clinical Trial.
This report describes the response of 18 Diamond-Blackfan anemia (DBA) patients to recombinant human interleukin 3 (rhIL-3). rhIL-3 was administered s.c. once daily on an escalating dose schedule (0.5-10 micrograms/kg/day). The rhIL-3 dose was escalated every …
This report describes the response of 18 Diamond-Blackfan anemia (DBA) patients to recombinant human interleukin 3 (rhI …
Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3.
Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ. Gillio AP, et al. Blood. 1993 Aug 1;82(3):744-51. Blood. 1993. PMID: 8338944 Free article. Clinical Trial.
This report describes the response of eighteen Diamond-Blackfan anemia (DBA) patients to recombinant human interleukin-3 (rhIL-3). rhIL-3 was administered subcutaneously once daily on an escalating dose schedule (0.5 to 10 micrograms/kg/d). The rhIL-3 dose wa …
This report describes the response of eighteen Diamond-Blackfan anemia (DBA) patients to recombinant human interleukin- …
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.
Schuster J, Fröjmark AS, Nilsson P, Badhai J, Virtanen A, Dahl N. Schuster J, et al. Blood Cells Mol Dis. 2010 Jun 15;45(1):23-8. doi: 10.1016/j.bcmd.2010.03.007. Epub 2010 Apr 14. Blood Cells Mol Dis. 2010. PMID: 20395159 Free PMC article.
Heterozygous mutations in the ribosomal protein S19 (RPS19) gene are associated with Diamond-Blackfan anemia (DBA). The mechanism by which RPS19 mediates anemia are still unclear, as well as the regulation of RPS19 expression. ...We investigated the mR …
Heterozygous mutations in the ribosomal protein S19 (RPS19) gene are associated with Diamond-Blackfan anemia (DBA). The …
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Cmejla R, et al. Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874. Hum Mutat. 2009. PMID: 19191325
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. ...These observations may suggest that mutations, at least in RPL5, seem to generally have more profound impact on fetal development th …
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. .. …
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