ライフサイエンスコーパス: Tangier disease

1 cassette transporter A1 gene as the cause of Tangier disease.

2 o 293 cells, establishing their causality in Tangier disease.

3 hospholipids and is mutated in patients with Tangier disease.

4 lial high density lipoprotein deficiency and Tangier disease.

5 demonstrated to be mutated in patients with Tangier disease.

6 consequences of its defect in patients with Tangier disease.

7 f additional ABC1 mutations in patients with Tangier disease.

8 has been identified as the defective gene in Tangier disease.

9 tation in the ABC1 gene of the index case of Tangier disease.

10 Tangier disease, a condition characterized by low levels

11 marrow-derived cells mimics many aspects of Tangier disease, a human high density lipoprotein defici

12 ABCA1 gene severe mutations underlie Tangier disease, a rare Mendelian disorder that can lead

13 nce ABCA1 mutations were discovered to cause Tangier disease, a rare recessive HDL deficiency, it has

14 Mutations in ABCA1 cause Tangier disease, a severe HDL deficiency syndrome charac

15 causally implicated in three human diseases: Tangier disease (ABCA1), Stargadt's macular degeneration

16 Individuals with Tangier disease also have elevated plasma triglyceride c

17 y similar in IPSDM and HMDM of patients with Tangier disease, an autosomal recessive disorder because

18 r A1 (ABCA1) transporter are associated with Tangier disease and a defect in cellular cholesterol eff

19 fferential atherosclerotic susceptibility in Tangier disease and further demonstrate the usefulness o

20 pathophysiologic hallmarks similar to human Tangier disease and highlight the capacity of ABC1 trans

21 ing cassette transporter A1, and can explain Tangier disease and other HDL deficiencies.

22 terol transporters lead to disorders such as Tangier disease and sitosterolemia.

23 er in mice produced changes similar to human Tangier disease and suggested that this mouse may be a m

24 ABCA1-defective T cells from a patient with Tangier disease, and RNA interference-mediated inhibitio

25 rter 1 (ABCA1), the defective transporter in Tangier disease, binds and promotes cellular cholesterol

26 may help to prevent early atherosclerosis in Tangier disease but may also be sensitive to aging pheno

27 transporter was identified as the defect in Tangier disease by a combined strategy of gene expressio

28 t from fibroblasts with nonfunctional ABCA1 (Tangier disease cells), despite near normal amounts of c

29 Mutations in ABCA1 cause Tangier disease characterized by defective cholesterol h

30 porter have been identified as the defect in Tangier disease, characterized by low HDL and cholestero

31 has been identified as the genetic defect in Tangier disease, evidence that ABC1 is critical to the b

32 Patients with Tangier disease exhibit extremely low plasma HDL concent

33 of the genetic mutations in individuals with Tangier disease fall.

34 denovirally mediated ABCA1-GFP expression in Tangier disease fibroblasts corrected the late endocytic

35 lacked the ability to remove alpha-TOH from Tangier disease fibroblasts that have a nonfunctional AB

36 Late endocytic trafficking was defective in Tangier disease fibroblasts that lack functional ABCA1.

37 Individuals with Tangier disease harbor loss-of-function mutations in thi

38 transporter (ABCA1) as the genetic defect in Tangier disease has generated interest in modulating ath

39 porter A1 (ABCA1), the defective molecule in Tangier disease, has been shown to stimulate phospholipi

40 Patients with Tangier disease have a defect in cellular cholesterol re

41 Patients with homozygous Tangier disease have defective cellular cholesterol effl

42 Recent studies of Tangier disease have shown that the ATP-binding cassette

43 Tangier disease-IPSDM also revealed novel defects of enh

44 Tangier disease-IPSDM recapitulated hallmark features ob

45 Tangier disease is characterized by low serum high densi

46 mutation in the ABC1 gene from the original Tangier disease kindred.

47 Consistent with a lipid trafficking defect, Tangier disease late endocytic vesicles accumulated both

48 The excess cholesterol in Tangier disease late endocytic vesicles retained massive

49 1 in abnormally tubulated, cholesterol-poor, Tangier disease late endosomes, rather than cholesterol-

50 ed retention of NPC1 in wild type but not in Tangier disease late endosomes.

51 ABCA1, the mutant molecule in Tangier Disease, mediates efflux of cellular cholesterol

52 porter A1 (ABCA1), the defective molecule in Tangier disease, mediates the apoAI-dependent efflux of

53 the ATP-binding cassette protein mutated in Tangier disease, mediates the efflux of excess cellular

54 ABCA1, the defective molecule in Tangier disease, mediates the efflux of phospholipids an

55 basis of lipid-associated disorders such as Tangier disease, Niemann-Pick disease type C and atheros

56 which loss-of-function mutations cluster in Tangier disease patients.

57 ATP-binding cassette transporter mutated in Tangier disease, promotes cellular phospholipid and chol

58 Tangier disease (TD) and familial HDL deficiency (FHA) h

59 assette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinem

60 Tangier disease (TD) is a human genetic disorder associa

61 Loss of ABCA1 activity in Tangier disease (TD) is associated with abnormal apoB li

62 The Tangier disease W590S ABCA1 mutation has defective PS fl

63 ably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the d

64 the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleot

65 duals with mutational ablation of ABCA1 have Tangier disease, which is characterized by a complete lo

66 te transporter (ABCA1) gene in patients with Tangier disease, who exhibit reduced HDL cholesterol (HD