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1 ewer mitochondria (P < 0.02) in nephropathic cystinosis.
2 osomal, recessive, lysosomal-storage disease cystinosis.
3 g agent, was introduced for the treatment of cystinosis.
4 ntial for drug treatment of the rare disease cystinosis.
5 function of altered pathways in nephropathic cystinosis.
6 hting a novel mechanism of tubular injury in cystinosis.
7 of cystine depletion therapy in nephropathic cystinosis.
8 disease of two animal models of nephropathic cystinosis.
9  potential for the therapeutic monitoring of cystinosis.
10 tion of autophagy cargoes, is compromised in cystinosis.
11 stinosin cause the lysosomal storage disease cystinosis.
12 olimus has potential to improve treatment of cystinosis.
13 se in therapeutic monitoring of nephropathic cystinosis.
14 , with causes of CKD other than nephropathic cystinosis.
15 into the lysosome caused by defective CMA in cystinosis.
16 chanisms and for testing novel therapies for cystinosis.
17 evant mechanism to increase cell survival in cystinosis.
18 actor EB (TFEB), which was down-regulated in cystinosis.
19  cystine accumulation and the development of cystinosis.
20 on for the appearance of Fanconi syndrome in cystinosis.
21 lls obtained from patients with nephropathic cystinosis.
22  not responsible for the end organ injury in cystinosis.
23 erin as potentially involved in nephropathic cystinosis.
24 and progressive renal injury in nephropathic cystinosis.
25 s similar to those observed in patients with cystinosis.
26 crystals in the pathogenesis of nephropathic cystinosis.
27 oxicities and clinical effectiveness against cystinosis.
28 omal transport improves cellular function in cystinosis.
29 id cystine from lysosomes and is impaired in cystinosis.
30 -closure glaucoma in association with ocular cystinosis.
31 t of 25 patients with infantile nephropathic cystinosis, 12 have two severely truncating mutations, w
32              Of 100 adults with nephropathic cystinosis, 92 had received a renal allograft and 33 had
33                   Cystinosin mutations cause cystinosis, a devastating lysosomal storage disease.
34                                 Nephropathic cystinosis, a hereditary lysosomal storage disorder caus
35  lysosomes of fibroblasts from patients with cystinosis, a lysosomal-storage disease caused by inacti
36                                              Cystinosis, a main cause of Fanconi syndrome, is reprodu
37 s at acidic pH in patients with nephropathic cystinosis, a rare lysosomal storage disease and the mai
38                                   Late-onset cystinosis, a rarer form of the disorder, is characteriz
39  cystine levels in patients of all ages with cystinosis; a receiver operating characteristic analysis
40 al homeostasis in patients with nephropathic cystinosis across the predialysis CKD spectrum to these
41 5 kb in size that represents the most common cystinosis allele encountered to date.
42 nistration-approved therapy for nephropathic cystinosis also postulated to enhance glutathione biosyn
43 crystals is the main ocular manifestation of cystinosis, although controversial findings concerning t
44                                 Nephropathic cystinosis, an autosomal recessive disorder resulting fr
45 ncoding the transporter cystinosin result in cystinosis, an autosomal recessive metabolic disorder ch
46 ildren and three adults who had nephropathic cystinosis and corneal cystine depositions.
47 MD genes whose mutations are responsible for Cystinosis and Duchene Muscular Dystrophy diseases, resp
48 that luteolin improves defective pathways of cystinosis and has a good safety profile, and thus has p
49 r using HSC transplantation as a therapy for cystinosis and highlights the efficiency of this strateg
50  ATP6V0A1 was significantly downregulated in cystinosis and highly co-regulated with loss of CTNS.
51 as potential as a treatment for nephropathic cystinosis and other renal lysosomal storage diseases.
52 phropathic cystinosis, those with late-onset cystinosis and patients whose phenotype does not fit the
53 2 pathway in the progression of nephropathic cystinosis and provide a proof of concept for the pathwa
54 in the cell injury mechanism of nephropathic cystinosis and provide evidence linking cellular stress
55 ring efforts to develop novel treatments for cystinosis and understand the mechanisms of ion driven t
56 ved from patients with, and mouse models of, cystinosis, and in preclinical studies in cystinotic zeb
57 emical intermediate in cysteamine therapy of cystinosis, and PQLC2 gene silencing trapped this interm
58 nd progressive renal failure in nephropathic cystinosis are largely unclear, and increasing evidence
59                                      Data on cystinosis are limited by the rarity of the disease.
60                             Animal models of cystinosis are limited, with only a Ctns knockout mouse
61 ed insight about the DNA within and flanking cystinosis-associated deletions, we mapped and sequenced
62    The novel findings are ATP6V0A1's role in cystinosis-associated renal pathology and among other an
63 ays an important role in the pathogenesis of cystinosis, biomarkers of macrophage activation could ha
64 cumulation slows progression of nephropathic cystinosis but it is a demanding treatment and not a cur
65 the CTNS gene, is a hallmark of nephropathic cystinosis, but the role of these crystals in disease pa
66                One patient with nephropathic cystinosis carried a -295 G-->C substitution disrupting
67                The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characte
68                       Untreated nephropathic cystinosis causes extensive morbidity and death in adult
69 d intervening DNA associated with the common cystinosis-causing deletion, and structural information
70 gene (CARKL) residing within the most common cystinosis-causing deletion.
71  Western blot analysis, was low or absent in cystinosis cells compared with normal primary cells.
72                                 Clusterin in cystinosis cells localized to the nucleus and cytoplasm
73 levated levels of intracellular clusterin in cystinosis cells.
74 ll viability and attenuation of apoptosis in cystinosis cells.
75                                 Nephropathic cystinosis, characterized by accumulation of cystine in
76                                 Nephropathic cystinosis CKD patients have mineral abnormalities that
77                               According to a cystinosis clinical severity score, homozygotes for the
78 opsy samples from patients with nephropathic cystinosis, clusterin protein expression was mainly limi
79 Some are responsible for metabolic diseases (cystinosis, congenital disorder of glycosylation), other
80                   Using the murine model for cystinosis, Ctns(-/-) mice, we performed syngeneic bone
81                                 The gene for cystinosis, CTNS, has 12 exons.
82 ss frequent types include urate nephropathy, cystinosis, dihydroxyadeninuria, and drug-induced crysta
83           Approximately 95% of patients with cystinosis display renal Fanconi syndrome, short stature
84 Sp-1 motif, whereas two patients with ocular cystinosis displayed a -303 G-->T substitution in one ca
85 tic variants, benign ocular and intermediate cystinosis, do not display increased apoptosis with incr
86 th nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystroph
87 ucoma in nanophthalmos accompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy com
88 , thus protecting patients with nephropathic cystinosis from elevations of FGF23 during early CKD sta
89                                          The cystinosis gene has been mapped to chromosome 17p13.
90              We previously characterized the cystinosis gene, CTNS, and identified pathogenic mutatio
91                                Patients with cystinosis had higher levels of circulating IL-1beta and
92                   Patients with nephropathic cystinosis had significantly lower percent tubular reabs
93 lantation for the lysosomal storage disorder cystinosis have shown that HSPC-derived macrophages form
94 ss commonly seen extrarenal complications of cystinosis in a group of patients who have periods witho
95              The full burden of nephropathic cystinosis in adulthood and the effects of long-term ora
96 imal tubular cells, we used a mouse model of cystinosis in which conditional excision of floxed megal
97 idant therapy for patients with nephropathic cystinosis, in a mouse model of unilateral ureteral obst
98 ions in patients with infantile nephropathic cystinosis, including a common, approximately 65 kb dele
99 lar defects induced by lysosomal overload in cystinosis, including ER stress.
100 eamine does not correct all complications of cystinosis, including Fanconi syndrome, we hypothesized
101 ariety of techniques to examine hallmarks of cystinosis-including cystine accumulation, lysosome size
102                                 Nephropathic cystinosis is a lethal disorder of lysosomal cystine sto
103                                              Cystinosis is a lysosomal storage disease that is charac
104                                              Cystinosis is a lysosomal storage disorder caused by the
105                                              Cystinosis is a multisystemic disease resulting from cys
106                                              Cystinosis is a rare autosomal recessive storage disorde
107                                 Nephropathic cystinosis is a rare disease secondary to recessive muta
108                                              Cystinosis is a rare genetic disease characterized by de
109                                 Nephropathic cystinosis is a rare inherited lysosomal storage disorde
110                                              Cystinosis is a rare lysosomal storage disorder caused b
111                       Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused
112                                 Nephropathic cystinosis is an autosomal recessive disorder caused by
113                                 Nephropathic cystinosis is an autosomal recessive lysosomal storage d
114                                              Cystinosis is an autosomal recessive metabolic disease t
115 persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral patt
116                                              Cystinosis is associated with defects in chaperone-media
117                        In its severest form, cystinosis is characterized by cystine accumulation, ren
118 human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to p
119                                    Moreover, cystinosis is the most common inherited cause of renal F
120  the lysosomal cystine exporter defective in cystinosis, is the founding member of a family of heptah
121      The most severe phenotype, nephropathic cystinosis, manifests during the first months of life, a
122 entify differentially expressed genes in the cystinosis models compared with controls.
123                Compared with controls, these cystinosis models exhibit elevated cystine levels, incre
124 rom patients with three clinical variants of cystinosis: Nephropathic, intermediate, and ocular.
125 patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported,
126 d (four), polycystic kidney disease (three), cystinosis (one), and glomerulonephritis (1).
127 s (four), congenital hepatic fibrosis (two), cystinosis (one), polycystic liver disease (one), A-1-A
128 onstrated lower FGF23 levels in nephropathic cystinosis participants at all CKD stages when corrected
129  establishes the connection between ERAD and cystinosis pathogenesis and demonstrates the possibility
130 S and CARKL are absent in nearly half of all cystinosis patients (i.e., those homozygous for the comm
131 tive study analyzed clinical records from 36 cystinosis patients examined at the Day of Hope conferen
132  analysis of 108 American-based nephropathic cystinosis patients revealed that 48 patients (44%) were
133 vely assessing corneal crystal deposition in cystinosis patients using a slit lamp biomicroscope.
134  rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evo
135 r transport and, ultimately, the efficacy of cystinosis prevention.
136 imary hyperoxalurias as well as nephropathic cystinosis provide important general information to be a
137 study included 50 patients with nephropathic cystinosis-related CDK and 97 with CKD from other causes
138                                              Cystinosis represents a dramatic example of progressive
139  gene expression in PBMCs from patients with cystinosis revealed a significant increase in IL-1beta a
140 for assessing corneal crystal involvement in cystinosis, supporting its clinical and research applica
141  the involvement of pathways in nephropathic cystinosis that are unrelated to lysosomal cystine accum
142 cellular dysfunctions have been described in cystinosis, the mechanisms leading to these defects are
143 creened patients with infantile nephropathic cystinosis, those with late-onset cystinosis and patient
144 patients with CKD stemming from nephropathic cystinosis versus other causes.
145      For three patients, the age of onset of cystinosis was <7 years but the course of the disease wa
146              Defective LAMP2A trafficking in cystinosis was found to associate with decreased express
147               Defective Rab11 trafficking in cystinosis was rescued by treatment with small-molecule
148 ic and adaptation mechanisms of nephropathic cystinosis, we defined the onset of Fanconi syndrome in
149 human-based cell culture models for studying cystinosis, we generated the first human induced pluripo
150 tions for treatment of corneal or ophthalmic cystinosis were included.
151 strointestinal and muscular complications of cystinosis were studied in a group of 21 patients.
152  and fibroblasts isolated from patients with cystinosis were transcriptionally profiled.
153 C33, rescued LAMP2A-defective trafficking in cystinosis, whereas dominant-negative Rab11 or Rab7 impa
154  cellular mechanisms underlying nephropathic cystinosis, which exhibits generalized proximal tubular
155 idence of abnormal mitophagy in nephropathic cystinosis, which may contribute to the renal Fanconi sy
156 r region should be examined in patients with cystinosis who have fewer than two coding-sequence mutat
157 longitudinal study in which 61 patients with cystinosis who were receiving cysteamine therapy were re

 
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