Published in Nephrol Dial Transplant on September 01, 2014
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A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. Endocrinology (2015) 0.86
Cystinosis: a review. Orphanet J Rare Dis (2016) 0.85
Management dilemmas in pediatric nephrology: Cystinosis. Pediatr Nephrol (2015) 0.84
A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR. Cell Death Differ (2016) 0.83
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol (2016) 0.82
An update on the role of the inflammasomes in the pathogenesis of kidney diseases. Pediatr Nephrol (2015) 0.81
Excellent long-term outcome of renal transplantation in cystinosis patients. Orphanet J Rare Dis (2015) 0.80
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Skeletal implications and management of cystinosis: three case reports and literature review. Bonekey Rep (2016) 0.75
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. Clin J Am Soc Nephrol (2017) 0.75
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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet (1998) 3.24
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Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol (2005) 1.85
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J (2001) 1.83
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A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol (2012) 1.75
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Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int (2011) 1.39
Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood (2009) 1.28
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Renal phenotype of the cystinosis mouse model is dependent upon genetic background. Nephrol Dial Transplant (2009) 1.18
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. Pediatr Nephrol (2010) 1.17
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet (2004) 1.14
Improvement in the renal prognosis in nephropathic cystinosis. Clin J Am Soc Nephrol (2011) 1.10
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Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. PLoS One (2012) 1.07
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat (2008) 1.04
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim Biophys Acta (2011) 1.04
Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys. J Am Soc Nephrol (2014) 1.00
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore) (2005) 0.99
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Pediatr Nephrol (2005) 0.99
Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. J Pediatr (2007) 0.96
Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther (2012) 0.96
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Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. Hum Mol Genet (2013) 0.94
Cysteamine toxicity in patients with cystinosis. J Pediatr (2011) 0.94
Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta. J Am Soc Nephrol (2006) 0.93
Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol (2008) 0.92
Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J Am Soc Nephrol (2002) 0.92
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Early development of the renal lesions in infantile cystinosis. Pediatr Nephrol (2000) 0.92
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Surv Ophthalmol (2007) 0.92
Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage. Cortex (2009) 0.91
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. Proc Natl Acad Sci U S A (2012) 0.89
Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr (2001) 0.88
Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis. Mol Cell Biol (2013) 0.88
Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr (1993) 0.87
Clinical utility gene card for: cystinosis. Eur J Hum Genet (2013) 0.86
Detailed studies of growth hormone secretion in cystinosis patients. Pediatr Nephrol (2012) 0.86
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In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis. Ophthalmology (2009) 0.84
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Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril (2009) 0.84
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Modulation of CTNS gene expression by intracellular thiols. Free Radic Biol Med (2010) 0.83
Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. N Engl J Med (1988) 0.83
Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediatr Nephrol (1999) 0.83
ACE inhibitorenalapril diminishes albuminuria in patients with cystinosis. Clin Nephrol (2003) 0.82
Feeding problems in cystinosis. Pediatr Nephrol (1998) 0.82
A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study. Mol Genet Metab (2014) 0.81
The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire. Pediatr Nephrol (1995) 0.81
Renal transplantation in 22 children with nephropathic cystinosis. Pediatr Nephrol (1991) 0.80
A potential new method to estimate tissue cystine content in nephropathic cystinosis. J Pediatr (2012) 0.76
Mechanism of action of indomethacin in tubular defects. Pediatrics (1985) 0.76
Survival and clinical outcomes of children starting renal replacement therapy in the neonatal period. Kidney Int (2014) 1.93
Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol (2008) 1.72
An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1. Pediatr Transplant (2016) 1.39
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). Eur J Hum Genet (2014) 0.81
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int (2016) 0.78