ライフサイエンスコーパス: spherocytosis

1 to decreased ANK1 mRNA levels and hereditary spherocytosis.

2 n associated with a hereditary human anemia, spherocytosis.

3 that underlies ankyrin-deficient hereditary spherocytosis.

4 en controls and splenectomized subjects with spherocytosis.

5 affect protein 4.2 and result in hereditary spherocytosis.

6 et formation, thrombocytopenia, and platelet spherocytosis.

7 esembling RBCs from patients with hereditary spherocytosis.

8 ions is a key pathogenic event in hereditary spherocytosis.

9 c hemolytic anemia without family history of spherocytosis.

10 several RBC disorders, including hereditary spherocytosis.

11 or nondominant spectrin-deficient hereditary spherocytosis.

12 Indication for splenectomy was hereditary spherocytosis (111), immune thrombocytopenic purpura (36

13 s defective in many patients with hereditary spherocytosis, a common hemolytic anemia.

14 In children with hereditary spherocytosis, a partial splenectomy appears to control

15 Accordingly, the apparently isolated spherocytosis allows investigation of the role of discoi

16 he most common cause in humans of hereditary spherocytosis, an inherited anemia that affects patients

17 For some forms of autism, hereditary spherocytosis and color blindness, the culprits are sing

18 rythrocyte band 3 and its role in hereditary spherocytosis and distal renal tubular acidosis are desc

19 exchanger 1; SLC4A1) causing both hereditary spherocytosis and distal renal tubular acidosis.

20 For RBCs in spherocytosis and elliptocytosis, the bilayer-cytoskelet

21 e found in human diseases such as hereditary spherocytosis and elliptocytosis.

22 ective RBCs in hereditary disorders, such as spherocytosis and elliptocytosis.

23 xt of hereditary hemolytic disorders such as spherocytosis and elliptocytosis.

24 ed blood cells from patients with hereditary spherocytosis and elliptocytosis.

25 of red blood cell shape including hereditary spherocytosis and elliptocytosis.

26 consists of a moderate hemolytic anemia with spherocytosis and frequent spiculation of the red cells.

27 rane vesicles and tubules, leading to severe spherocytosis and hemolysis, but the levels of the major

28 gene expression in patients with hereditary spherocytosis and hereditary pyropoikilocytosis.

29 d beta chain, and associated with hereditary spherocytosis and isolated spectrin deficiency.

30 ssential diagnostic component for hereditary spherocytosis and may correlate with hemolytic parameter

31 ably associated with mild autosomal dominant spherocytosis and with the presence of pincered red cell

32 recent studies on band 3-induced hereditary spherocytosis are reviewed and an explanation for the mi

33 ve implications beyond muscle for hereditary spherocytosis, as KCTD6 is also present in erythrocytes,

34 Fragments with the -108/-153 spherocytosis-associated mutations failed to function as

35 c thrombocytopenic purpura (ITP), hereditary spherocytosis, autoimmune hemolytic anemia, thrombotic t

36 own to be associated with diseases including spherocytosis, cardiac arrhythmia, and bipolar disorder

37 as in both the hereditary stomatocytosis and spherocytosis classes.

38 (180 mumol/g) in one patient with hereditary spherocytosis discovered after LT.

39 oform in platelet structure and suggest that spherocytosis does not impair many aspects of platelet f

40 hanics in hereditary blood disorders such as spherocytosis, elliptocytosis, and especially, sickle ce

41 the erythrocyte membrane, such as hereditary spherocytosis, hereditary elliptocytosis, and hereditary

42 well-known red cell pathologies (hereditary spherocytosis, hereditary elliptocytosis, hereditary hyd

43 m of RBC removal in diseases like hereditary spherocytosis (HS) and autoimmune hemolytic anemia, but

44 In hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), d

45 keleton; sph/sph mice have severe hereditary spherocytosis (HS) because of a mutation in the murine e

46 Several subsets of patients with hereditary spherocytosis (HS) have been defined based on the specif

47 Hereditary spherocytosis (HS) is a common hemolytic anemia of varia

48 Hereditary spherocytosis (HS) is the most common inherited haemolyt

49 eta-spectrin can result in severe hereditary spherocytosis (HS) or hereditary elliptocytosis (HE) in

50 mans lead to the hemolytic anemia Hereditary Spherocytosis (HS) which includes a subpopulation with n

51 Sixteen children had hereditary spherocytosis (HS), and nine children had other erythroc

52 eatures characteristic of RBCs in hereditary spherocytosis (HS), including spherocytes with significa

53 ses the disease ankyrin-deficient Hereditary Spherocytosis (HS).

54 common cause of typical, dominant hereditary spherocytosis (HS).

55 ary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS).

56 ects are the most common cause of hereditary spherocytosis (HS).

57 embrane skeleton components cause hereditary spherocytosis (HS).

58 ects are the most common cause of hereditary spherocytosis (HS).

59 lpha- or beta-spectrin results in hereditary spherocytosis (HS).

60 .2-null (4.2(-/-)) mice have mild hereditary spherocytosis (HS).

61 ood cells (RBCs) in patients with hereditary spherocytosis (HS).

62 ied a French kindred with typical hereditary spherocytosis (HS).

63 or nondominant spectrin-deficient hereditary spherocytosis in approximately 50% of studied families.

64 revealed evidence of compensated anemia and spherocytosis in the dematin headpiece null mice.

65 le cell disease, thalassemia, and hereditary spherocytosis, in which dehydration contributes to disea

66 he mild phenotype of heterozygous hereditary spherocytosis is discussed.

67 Rs and suggest that the origin of hereditary spherocytosis may be related to mechanical failure of AR

68 t quantitative trait locus, Hsm1 (hereditary spherocytosis modifier 1), localizes to mouse Chromosome

69 Spherocytosis mutant (Spna1(sph)/Spna1(sph); for simplic

70 vo establishing it as a causative hereditary spherocytosis mutation.

71 = 0.01) but the same levels as subjects with spherocytosis (p = 0.15.) There was no correlation betwe

72 ankyrin gene in ankyrin-deficient hereditary spherocytosis patients and to provide additional insight

73 mbly, and that possible thrombotic events in spherocytosis patients are not likely associated with al

74 ls for further genetic studies of hereditary spherocytosis patients, we cloned the human ANK-1 chromo

75 distinct subsets of patients with hereditary spherocytosis: Patients with isolated spectrin deficienc

76 icient (sph/sph) mice with severe hereditary spherocytosis, providing a model for events preceding th

77 n gene, Spna1, have been identified in mice (spherocytosis [sph], sph(1J), sph(2J), sph(2BC), sph(Dem

78 The spherocytosis syndromes, with a few rare exceptions, are

79 tive markers for diseases such as hereditary spherocytosis, thalassemia, and malaria.

80 gnificantly older age than participants with spherocytosis, these data suggest that an age-related lo

81 membrane such as morphological alterations (spherocytosis), translocation of aminophospholipids to t

82 Study of a novel band 3 hereditary spherocytosis variant suggests that expression of mutant

83 , thalassemia, hemoglobin CC, and hereditary spherocytosis, where cellular dehydration may be a signi

84 ant form of HS associated with a conspicuous spherocytosis with frequent spiculated cells (8% to 15%

85 was noted in 92% of patients with hereditary spherocytosis, without relapse for the duration of the o