SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes
Whole exome/genome sequencing has been fundamental in the identification of somatic mutations in the spliceosome machinery in myelodysplastic syndromes (MDSs) and other hematologic disorders.
Koseki, Haruhiko +22 more
core +1 more source
: Myelodysplastic syndrome (MDS) is driven by genetic mutations, but diagnosis relies on morphologic evaluation of bone marrow hematopoiesis. Only a small number of genetic abnormalities define specific bone marrow morphologic features in MDS, such as ...
Waihay J. Wong +10 more
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Studies on Sideroblasts Part 2 Sideroblasts and Bone Marrow Functions (Experimental Anemias) [PDF]
Various experimental anemias have been induced in adult rabbits mainly centering around the hematopoietic functions of the bone marrow; and with continuous observations on the changes of sideroblasts, a series of comparative studies between the ...
Kimura, Ikuro
core
Demographic and clinical characteristics of MDS patients.
Abbreviations: BM, bone marrow; n, number; RCUD, refractory cytopenia with unilineage dysplasia; RARS, refractory anemia with ring sideroblasts; RCMD, refractory cytopenia with multilineage dysplasia; RAEB, refractory anemia with excess blasts; CMML ...
Lin-lin Shao (295294) +11 more
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SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells
Key Points SF3B1 mutations in MDS-RS have a multipotent lymphomyeloid origin. Transplantation of SF3B1 mutated MDS-RS HSCs into immune-deficient mice results in generation of characteristic ring sideroblasts.
Iyadh Douagi +23 more
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Ringed Sideroblasts in Bone Marrow in Refractory Idiopathic Sideroblastic Anemia
ringed sideroblasts (iron stain) in bone marrow in ...
Lawrence, Christine
core
Experimental Studies on Sideroblasts Part 1 Effects of Addition of Iron or Vitamin B(12) on Sideroblasts In Vitro of Patients with Various Blood Diseases [PDF]
The author describes the results obtained in the series of tissue culture in fluid medium using the bone marrow from normal persons and patients with various blood diseases as materials supplemented with iron or vitamin B(12), in ordar to observe the ...
Yamauchi, Taisuke
core
Low-level somatic JAK2 V617F mutation in myelodysplastic/myeloproliferative neoplasm with ring sideroblasts, and thrombocytosis with co-mutated SF3B1 and CALR. [PDF]
Ji YS, Park SK, Jeon BR, Jang MA.
europepmc +1 more source
Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome
Neha Chopra Narang +3 more
doaj +1 more source

