ライフサイエンスコーパス: RARS

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1 RARS encodes the cytoplasmic arginyl-tRNA synthetase, an

2 cted in 53 ( approximately 50%) patients: 35 RARS (73%), 16 RCMD-RS (37%), and 2 RAEB1-RS (18%).

3 Among 9 RARS-T patients, 6 showed the presence of JAK2 V617F mut

4 Four genes (DNAH8, ALCAM, RARS, and GBF1) also demonstrated an increase in rare no

5 ory anemia with ring sideroblasts (RARS) and RARS associated with thrombocytosis (RARS-T), 2 distinct

6 sts, as well as in sideroblastic categories (RARS and RCMD-RS).

7 ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination.

8 the high frequency of mutations of SF3B1 in RARS/RARS-T, we investigated the consequences of SF3B1 a

9 s were detected in 129 of 159 cases (81%) of RARS or RCMD-RS.

10 An idiosyncratic feature of RARS/RARS-T is the presence of abnormal sideroblasts cha

11 % for RAEB-T, 26% for RAEB, and 0% for RA or RARS (P =.0009).

12 less soluble, and p.Arg403Trp disrupted QARS-RARS (arginyl-tRNA synthetase 1) interaction.

13 had low-risk diagnoses (ALL/AML CR1, MDS RA/RARS, and CML CP1); 49 patients had high-risk diagnoses

14 refractory anemia with ring sideroblasts [RA/RARS]) have low levels of NF-kappaB activity in nuclear

15 including 48 with refractory anemia with RS (RARS), 43 with refractory cytopenia with multilineage dy

16 of refractory anemia with ring sideroblasts (RARS) and RARS associated with thrombocytosis (RARS-T),

17 Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS) characterized

18 refractory anemia with ringed sideroblasts (RARS) and refractory anemia with multilineage dysplasia

19 mia (RA), 3 had RA with ringed sideroblasts (RARS), 5 had RA with excess blasts (RAEB), and 1 had chr

20 In summary, we found that RARS-T reveals a high frequency of JAK2 V617F mutation a

21 with ringed sideroblasts and thrombocytosis (RARS-T).

22 RS) and RARS associated with thrombocytosis (RARS-T), 2 distinct subtypes of MDS and MDS/myeloprolife

23 coarse iron deposits compared with wild-type RARS patients by transmission electron microscopy.

24 In other words, when RARS and RCMD-RS were analyzed separately, there was no

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