ライフサイエンスコーパス: hereditary spherocytosis

1 egion lead to decreased ANK1 mRNA levels and hereditary spherocytosis.

2 1) promoter that underlies ankyrin-deficient hereditary spherocytosis.

3 e mutations affect protein 4.2 and result in hereditary spherocytosis.

4 ild type, resembling RBCs from patients with hereditary spherocytosis.

5 se interactions is a key pathogenic event in hereditary spherocytosis.

6 recessive or nondominant spectrin-deficient hereditary spherocytosis.

7 ogenesis of several RBC disorders, including hereditary spherocytosis.

8 Indication for splenectomy was hereditary spherocytosis (111), immune thrombocytopenic

9 tein that is defective in many patients with hereditary spherocytosis, a common hemolytic anemia.

10 In children with hereditary spherocytosis, a partial splenectomy appears

11 gene are the most common cause in humans of hereditary spherocytosis, an inherited anemia that affec

12 For some forms of autism, hereditary spherocytosis and color blindness, the culpri

13 d 3 (anion exchanger 1; SLC4A1) causing both hereditary spherocytosis and distal renal tubular acidos

14 ucture of erythrocyte band 3 and its role in hereditary spherocytosis and distal renal tubular acidos

15 luding those found in human diseases such as hereditary spherocytosis and elliptocytosis.

16 rmined in red blood cells from patients with hereditary spherocytosis and elliptocytosis.

17 ormalities of red blood cell shape including hereditary spherocytosis and elliptocytosis.

18 ha-spectrin gene expression in patients with hereditary spherocytosis and hereditary pyropoikilocytos

19 a truncated beta chain, and associated with hereditary spherocytosis and isolated spectrin deficienc

20 ls are an essential diagnostic component for hereditary spherocytosis and may correlate with hemolyti

21 The most recent studies on band 3-induced hereditary spherocytosis are reviewed and an explanation

22 in-1 may have implications beyond muscle for hereditary spherocytosis, as KCTD6 is also present in er

23 e idiopathic thrombocytopenic purpura (ITP), hereditary spherocytosis, autoimmune hemolytic anemia, t

24 , and high (180 mumol/g) in one patient with hereditary spherocytosis discovered after LT.

25 spleen iron and regulatory variation at two hereditary spherocytosis genes, ANK1 and SPTA1.

26 sorders of the erythrocyte membrane, such as hereditary spherocytosis, hereditary elliptocytosis, and

27 leading to well-known red cell pathologies (hereditary spherocytosis, hereditary elliptocytosis, her

28 he mechanism of RBC removal in diseases like hereditary spherocytosis (HS) and autoimmune hemolytic a

29 In hereditary spherocytosis (HS) and hereditary elliptocyto

30 hroid cytoskeleton; sph/sph mice have severe hereditary spherocytosis (HS) because of a mutation in t

31 Several subsets of patients with hereditary spherocytosis (HS) have been defined based on

32 Hereditary spherocytosis (HS) is a common hemolytic anem

33 Hereditary spherocytosis (HS) is the most common inherit

34 alpha- or beta-spectrin can result in severe hereditary spherocytosis (HS) or hereditary elliptocytos

35 teins in humans lead to the hemolytic anemia Hereditary Spherocytosis (HS) which includes a subpopula

36 Sixteen children had hereditary spherocytosis (HS), and nine children had oth

37 emia with features characteristic of RBCs in hereditary spherocytosis (HS), including spherocytes wit

38 er that causes the disease ankyrin-deficient Hereditary Spherocytosis (HS).

39 e the most common cause of typical, dominant hereditary spherocytosis (HS).

40 E), hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS).

41 Ankyrin defects are the most common cause of hereditary spherocytosis (HS).

42 ell (RBC) membrane skeleton components cause hereditary spherocytosis (HS).

43 erythroid alpha- or beta-spectrin results in hereditary spherocytosis (HS).

44 Protein 4.2-null (4.2(-/-)) mice have mild hereditary spherocytosis (HS).

45 s of red blood cells (RBCs) in patients with hereditary spherocytosis (HS).

46 We studied a French kindred with typical hereditary spherocytosis (HS).

47 orter pathlength and reduced tortuosity) and hereditary spherocytosis (HS; expanded pathlength).

48 recessive or nondominant spectrin-deficient hereditary spherocytosis in approximately 50% of studied

49 nclude sickle cell disease, thalassemia, and hereditary spherocytosis, in which dehydration contribut

50 ation for the mild phenotype of heterozygous hereditary spherocytosis is discussed.

51 erties of ARs and suggest that the origin of hereditary spherocytosis may be related to mechanical fa

52 significant quantitative trait locus, Hsm1 (hereditary spherocytosis modifier 1), localizes to mouse

53 o and in vivo establishing it as a causative hereditary spherocytosis mutation.

54 DNA of the ankyrin gene in ankyrin-deficient hereditary spherocytosis patients and to provide additio

55 cessary tools for further genetic studies of hereditary spherocytosis patients, we cloned the human A

56 fines four distinct subsets of patients with hereditary spherocytosis: Patients with isolated spectri

57 pectrin-deficient (sph/sph) mice with severe hereditary spherocytosis, providing a model for events p

58 lytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder

59 ng quantitative markers for diseases such as hereditary spherocytosis, thalassemia, and malaria.

60 cyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5.

61 Study of a novel band 3 hereditary spherocytosis variant suggests that expressio

62 ell disease, thalassemia, hemoglobin CC, and hereditary spherocytosis, where cellular dehydration may

63 e response was noted in 92% of patients with hereditary spherocytosis, without relapse for the durati