ライフサイエンスコーパス: alpha-thalassemia

1 tions interfere with this mechanism to cause alpha thalassemia.

2 variant form of the inherited blood disorder alpha thalassemia.

3 a sickle S trait associated to heterozygous alpha thalassemia.

4 istory of hemoglobin H disease, a subtype of alpha-thalassemia.

5 have previously established a mouse model of alpha-thalassemia.

6 % percent of these individuals who coinherit alpha-thalassemia.

7 X-linked mental retardation associated with alpha-thalassemia.

8 the MCS-R2 alpha-globin enhancer and causes alpha-thalassemia.

9 e 6 most frequently observed determinants of alpha-thalassemia.

10 for Hp, hemoglobin (Hb) S heterozygotes, and alpha(+)thalassemia.

11 nent condition characterizing Melanesians is alpha(+)-thalassemia.

12 evere malaria risk (HbAS polymorphism, 6.3%; alpha-thalassemia, 0.3%; ABO group, 0.3%; and glucose-6-

13 RBCs is increased when compared with HbH and alpha-thalassemia-1 trait RBCs.

14 le cell trait (10/218 [4.6%]) and homozygous alpha+thalassemia (8/216 [3.7%]) were significantly lowe

15 raction together with varying frequencies of alpha(+)thalassemia across Africa may explain the incons

16 a, where malaria transmission is intense and alpha+-thalassemia affects more than 90% of the populati

17 anism of the remarkable protective effect of alpha+-thalassemia against severe childhood disease rema

18 (MDS) is complicated by an acquired form of alpha-thalassemia (alpha-thalassemia in myelodysplastic

19 patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.

20 aphical correlation between the frequency of alpha+-thalassemia and the endemicity of Plasmodium falc

21 sociated with increased stroke risk, whereas alpha-thalassemia and a SNP in the ADCY9 gene were linke

22 population and when there is a variation for alpha-thalassemia and S, two unlinked, but epistatic var

23 The mechanisms by which alpha-thalassemia and sickle cell traits confer protecti

24 tion of the hypotheses that G6PD deficiency, alpha+ thalassemia, and hemoglobin C protect against mal

25 ividuals with myelodysplasia associated with alpha-thalassemia (ATMDS), somatic mutations of the gene

26 syndrome that is frequently associated with alpha thalassemia (ATR-X syndrome).

27 The -3.7-kilobase alpha-thalassemia deletion accounted for about one third

28 Presence of alpha-thalassemia deletions was associated with fewer DR

29 nucleotide polymorphisms (SNPs), as well as alpha-thalassemia, G6PD A(-) variant deficiency, and bet

30 opulation is characterized by a frequency of alpha(+)-thalassemia >/=0.98, we have discovered the mut

31 More than 100 varieties of alpha-thalassemia have been identified.

32 Hb S heterozygotes and alpha(+)thalassemia homozygotes were protected from seve

33 0.40 (95% confidence interval 0.22-0.74) in alpha+-thalassemia homozygotes and 0.66 (0.37-1.20) in h

34 0.48; 95% CI, 0.32-0.73, respectively), but alpha(+)thalassemia in combination with Hp2-2 was not pr

35 nificant interaction between Hp genotype and alpha(+)thalassemia in predicting risk of severe malaria

36 ed by an acquired form of alpha-thalassemia (alpha-thalassemia in myelodysplastic syndrome [ATMDS]) c

37 In Vanuatu, paradoxically, alpha+-thalassemia increases the incidence of contractin

38 tion exhibited increased embryonic death and alpha-thalassemia intermedia.

39 idemiological surveys have demonstrated that alpha(+)-thalassemia is associated with increased suscep

40 When alpha-thalassemia is co-inherited with beta-thalassemia,

41 Alpha-thalassemia is very common throughout all tropical

42 lobin in beta thalassemia and beta-globin in alpha thalassemia leads to red blood cell hemolysis in t

43 insertion of a PGK-Neo cassette displays an alpha-thalassemia-like syndrome.

44 to reduced alpha-globin production and to an alpha-thalassemia-like syndrome.

45 We report here the correction of alpha-thalassemia major hydrops fetalis in transgene-fre

46 It is further proposed that alpha(+)-thalassemia may facilitate so-called "benign" P

47 in a severe genetic disorder termed X-linked alpha-thalassemia mental retardation (ATR-X) syndrome.

48 However, Sp100A cannot overcome Daxx- and alpha-thalassemia mental retardation, X-linked (ATRX)-me

49 dy, we characterize the Arabidopsis thaliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ort

50 timulating, death-domain-associated protein, alpha thalassemia/mental retardation syndrome X linked,

51 Alpha thalassemia/mental retardation syndrome X-linked (

52 , mutations of the telomere binding proteins alpha thalassemia/mental retardation syndrome X-linked (

53 (death-domain-associated protein) and ATRX (alpha thalassemia/mental retardation syndrome X-linked).

54 Here, we found that the ND10 component, alpha-thalassemia/mental retardation syndrome X-linked (

55 ase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked).

56 s (.alpha/alpha alpha) and the deletion type alpha-thalassemia mice (../alpha alpha) produce severe h

57 Here, we identify the SWI/SNF helicase ATRX (alpha-thalassemia/MR, X-linked) as a novel macroH2A-inte

58 enced by the genetic background in which the alpha-thalassemia mutation resides [129(sv/ev)/129(sv/ev

59 begun to recognize the more severe forms of alpha thalassemia, namely hemoglobin (Hb) H disease and

60 This mutation would ultimately compromise alpha(+)-thalassemia/P. vivax-mediated protection agains

61 distribution as a contributing factor to the alpha-thalassemia phenotype of ATRX syndrome.

62 ning, diagnosis, and management suggest that alpha-thalassemias should have a higher priority on glob

63 One patient had alpha-thalassemia sickle cell anemia.

64 and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before.

65 nenvironmental (eg, fetal hemoglobin levels, alpha-thalassemia status) factors are known to modify SC

66 ly, and the X-linked mental retardation with alpha-thalassemia syndrome, ATR-X.

67 e embryonic stem cells and created mice with alpha-thalassemia syndromes.

68 diseases, notably polycystic kidney disease, alpha-thalassemia, tuberous sclerosis, mental retardatio

69 Fetuses with homozygous alpha-thalassemia usually die at the third trimester of

70 as well as heterozygotes for a nondeletional alpha thalassemia variant, and two other compound hetero

71 stinctly overhydrated relative to deletional alpha-thalassemia variants, and the derangement of volum

72 combination with heterozygous or homozygous alpha(+)thalassemia was associated with protection from

73 n one or two of the four alpha-globin genes (alpha-thalassemia) was associated with a lower prevalenc

74 Indeed, by using a mouse model of alpha-thalassemia, we find that its phenotype is strongl

75 in S, glucose-6-phosphate dehydrogenase, and alpha-thalassemia) were the only ones to be associated w

76 individual with an inherited form of anemia (alpha-thalassemia) who has a deletion that results in a

77 ath domain associated protein (Daxx) and the alpha-thalassemia X-linked mental retardation protein (A

78 ulated properly to prevent the occurrence of alpha-thalassemias, yet many questions remain unanswered