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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
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
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
35 d intervening DNA associated with the common cystinosis-causing deletion, and structural information
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
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
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
59 eamine does not correct all complications of cystinosis, including Fanconi syndrome, we hypothesized
70 the lysosomal cystine exporter defective in cystinosis, is the founding member of a family of heptah
72 patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported,
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
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
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
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