ライフサイエンスコーパス: cystinosis

1 into the lysosome caused by defective CMA in cystinosis.

2 on for the appearance of Fanconi syndrome in cystinosis.

3 lls obtained from patients with nephropathic cystinosis.

4 not responsible for the end organ injury in cystinosis.

5 chanisms and for testing novel therapies for cystinosis.

6 erin as potentially involved in nephropathic cystinosis.

7 and progressive renal injury in nephropathic cystinosis.

8 s similar to those observed in patients with cystinosis.

9 crystals in the pathogenesis of nephropathic cystinosis.

10 oxicities and clinical effectiveness against cystinosis.

11 omal transport improves cellular function in cystinosis.

12 id cystine from lysosomes and is impaired in cystinosis.

13 -closure glaucoma in association with ocular cystinosis.

14 ewer mitochondria (P < 0.02) in nephropathic cystinosis.

15 evant mechanism to increase cell survival in cystinosis.

16 actor EB (TFEB), which was down-regulated in cystinosis.

17 cystine accumulation and the development of cystinosis.

18 t of 25 patients with infantile nephropathic cystinosis, 12 have two severely truncating mutations, w

19 Of 100 adults with nephropathic cystinosis, 92 had received a renal allograft and 33 had

20 Cystinosis, a main cause of Fanconi syndrome, is reprodu

21 Late-onset cystinosis, a rarer form of the disorder, is characteriz

22 5 kb in size that represents the most common cystinosis allele encountered to date.

23 Nephropathic cystinosis, an autosomal recessive disorder resulting fr

24 r using HSC transplantation as a therapy for cystinosis and highlights the efficiency of this strateg

25 phropathic cystinosis, those with late-onset cystinosis and patients whose phenotype does not fit the

26 in the cell injury mechanism of nephropathic cystinosis and provide evidence linking cellular stress

27 emical intermediate in cysteamine therapy of cystinosis, and PQLC2 gene silencing trapped this interm

28 nd progressive renal failure in nephropathic cystinosis are largely unclear, and increasing evidence

29 Animal models of cystinosis are limited, with only a Ctns knockout mouse

30 ed insight about the DNA within and flanking cystinosis-associated deletions, we mapped and sequenced

31 the CTNS gene, is a hallmark of nephropathic cystinosis, but the role of these crystals in disease pa

32 One patient with nephropathic cystinosis carried a -295 G-->C substitution disrupting

33 The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characte

34 Untreated nephropathic cystinosis causes extensive morbidity and death in adult

35 d intervening DNA associated with the common cystinosis-causing deletion, and structural information

36 gene (CARKL) residing within the most common cystinosis-causing deletion.

37 Western blot analysis, was low or absent in cystinosis cells compared with normal primary cells.

38 Clusterin in cystinosis cells localized to the nucleus and cytoplasm

39 levated levels of intracellular clusterin in cystinosis cells.

40 ll viability and attenuation of apoptosis in cystinosis cells.

41 Nephropathic cystinosis, characterized by accumulation of cystine in

42 According to a cystinosis clinical severity score, homozygotes for the

43 opsy samples from patients with nephropathic cystinosis, clusterin protein expression was mainly limi

44 Some are responsible for metabolic diseases (cystinosis, congenital disorder of glycosylation), other

45 Using the murine model for cystinosis, Ctns(-/-) mice, we performed syngeneic bone

46 The gene for cystinosis, CTNS, has 12 exons.

47 ss frequent types include urate nephropathy, cystinosis, dihydroxyadeninuria, and drug-induced crysta

48 Sp-1 motif, whereas two patients with ocular cystinosis displayed a -303 G-->T substitution in one ca

49 tic variants, benign ocular and intermediate cystinosis, do not display increased apoptosis with incr

50 th nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystroph

51 ucoma in nanophthalmos accompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy com

52 The cystinosis gene has been mapped to chromosome 17p13.

53 We previously characterized the cystinosis gene, CTNS, and identified pathogenic mutatio

54 Patients with cystinosis had higher levels of circulating IL-1beta and

55 The full burden of nephropathic cystinosis in adulthood and the effects of long-term ora

56 idant therapy for patients with nephropathic cystinosis, in a mouse model of unilateral ureteral obst

57 ions in patients with infantile nephropathic cystinosis, including a common, approximately 65 kb dele

58 lar defects induced by lysosomal overload in cystinosis, including ER stress.

59 eamine does not correct all complications of cystinosis, including Fanconi syndrome, we hypothesized

60 Nephropathic cystinosis is a lethal disorder of lysosomal cystine sto

61 Cystinosis is a lysosomal storage disorder caused by the

62 Cystinosis is a rare autosomal recessive storage disorde

63 Cystinosis is a rare genetic disease characterized by de

64 Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused

65 Nephropathic cystinosis is an autosomal recessive disorder caused by

66 Nephropathic cystinosis is an autosomal recessive lysosomal storage d

67 Cystinosis is an autosomal recessive metabolic disease t

68 Cystinosis is associated with defects in chaperone-media

69 Moreover, cystinosis is the most common inherited cause of renal F

70 the lysosomal cystine exporter defective in cystinosis, is the founding member of a family of heptah

71 rom patients with three clinical variants of cystinosis: Nephropathic, intermediate, and ocular.

72 patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported,

73 d (four), polycystic kidney disease (three), cystinosis (one), and glomerulonephritis (1).

74 s (four), congenital hepatic fibrosis (two), cystinosis (one), polycystic liver disease (one), A-1-A

75 S and CARKL are absent in nearly half of all cystinosis patients (i.e., those homozygous for the comm

76 analysis of 108 American-based nephropathic cystinosis patients revealed that 48 patients (44%) were

77 imary hyperoxalurias as well as nephropathic cystinosis provide important general information to be a

78 Cystinosis represents a dramatic example of progressive

79 gene expression in PBMCs from patients with cystinosis revealed a significant increase in IL-1beta a

80 cellular dysfunctions have been described in cystinosis, the mechanisms leading to these defects are

81 creened patients with infantile nephropathic cystinosis, those with late-onset cystinosis and patient

82 For three patients, the age of onset of cystinosis was <7 years but the course of the disease wa

83 Defective LAMP2A trafficking in cystinosis was found to associate with decreased express

84 Defective Rab11 trafficking in cystinosis was rescued by treatment with small-molecule

85 ic and adaptation mechanisms of nephropathic cystinosis, we defined the onset of Fanconi syndrome in

86 C33, rescued LAMP2A-defective trafficking in cystinosis, whereas dominant-negative Rab11 or Rab7 impa

87 cellular mechanisms underlying nephropathic cystinosis, which exhibits generalized proximal tubular

88 idence of abnormal mitophagy in nephropathic cystinosis, which may contribute to the renal Fanconi sy

89 r region should be examined in patients with cystinosis who have fewer than two coding-sequence mutat