ライフサイエンスコーパス: alpha-thalassemia

1 a sickle S trait associated to heterozygous alpha thalassemia.

2 tions interfere with this mechanism to cause alpha thalassemia.

3 variant form of the inherited blood disorder alpha thalassemia.

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

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

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

7 % percent of these individuals who coinherit alpha-thalassemia.

8 X-linked mental retardation associated with 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 tudies are tractable in populations in which alpha-thalassemia alleles are prevalent.

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

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

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

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

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

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

25 CNN and XGBoost to two case studies: one for alpha-thalassemia and the other for beta-thalassemia.

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

27 e, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia.

28 malaria season, MTD dose, fetal hemoglobin, alpha-thalassemia, and glucose-6-phosphate dehydrogenase

29 es that lead to hemoglobin S, O blood group, alpha-thalassemia, and the Dantu blood group, are associ

30 me (BHFS) represents the most severe form of alpha-thalassemia, arising from deletion of the duplicat

31 alpha-Thalassemia (AT) is one of the most commonly occur

32 ollowed by the HBA1 and HBA2 gene mutations (Alpha Thalassemia) at a rate of about 1 in 25.

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

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

35 orm of intellectual disability combined with alpha-thalassemia called ATR-X syndrome in hemizygous ma

36 ing valuable therapeutic alternative such as alpha-thalassemias, congenital dyserythropoietic anemia,

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

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

39 20.66; P = 8.63 x 10-95 to 6.19 x 10-5), and alpha-thalassemia deletions were significantly associate

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

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

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

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

44 0.40 (95% confidence interval 0.22-0.74) in alpha+-thalassemia homozygotes and 0.66 (0.37-1.20) in h

45 ene variants regulating fetal hemoglobin and alpha-thalassemia (important markers for SCD severity) w

46 0.48; 95% CI, 0.32-0.73, respectively), but alpha(+)thalassemia in combination with Hp2-2 was not pr

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

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

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

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

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

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

53 Alpha-thalassemia is very common throughout all tropical

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

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

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

57 on-dependent (TD) hereditary anemias such as alpha-thalassemia major are incontrovertible, the eviden

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

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

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

61 Mutational inactivation of ATRX (alpha-thalassemia mental retardation X-linked) represent

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

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

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

65 Alpha thalassemia/mental retardation syndrome X-linked (

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

67 Alpha thalassemia/mental retardation syndrome X-linked c

68 log of the SWI/SNF chromatin remodeler ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked),

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

70 are the large N-terminal deletions of ATRX (Alpha Thalassemia/Mental Retardation, X-linked) that gen

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

72 F3A), isocitrate dehydrogenase 1/2 (IDH1/2), alpha-thalassemia/mental retardation, X-linked (ATRX), a

73 s (AQR), WRN, BLM, RTEL1, PIF1, FANCM, ATRX (alpha-thalassemia/mental retardation, X-linked), CasDinG

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

75 methylation (H3K9me3), and its reader, ATRX (alpha-thalassemia/mental retardation, X-linked).

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

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

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

79 Naturally occurring alpha-thalassemia mutations that trigger aberrant splici

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

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

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

83 Here, we identify alpha-thalassemia retardation syndrome X-linked (ATRX) a

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

85 One patient had alpha-thalassemia sickle cell anemia.

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

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

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

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

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

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

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

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

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

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

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

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

98 d 99.34% accuracy on the private dataset for alpha thalassemia, while CNN reached 98.10% accuracy on

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

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

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