The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

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The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1039300187
P356DOI10.1203/PDR.0B013E31809FDA89
P698PubMed publication ID17597652

P50authorCorinne AntignacQ28320591
Vasiliki KalatzisQ37367292
Eric J KremerQ42671992
P2093author name stringChristian Hamel
François Malecaze
Chantal Cazevieille
Tangui Maurice
Carl Arndt
Nicolas Serratrice
Olivier Payet
Claire Hippert
Agnes Müller
P2860cites workCystinosisQ24262959
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosisQ24322985
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosinQ24338721
Intraocular pressure in genetically distinct mice: an update and strain surveyQ24803197
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterQ27937730
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisQ28591791
NIH conference. Cystinosis: progress in a prototypic diseaseQ39523964
Cystinosis. Histologic and crystallographic examination of crystals in eye tissuesQ43601341
Tonopen measurement of intraocular pressure in miceQ44809766
Alterations of Pigment Epithelium in CystinosisQ44858327
Prenatal Diagnosis of CystinosisQ45178464
Cystine: binding protein assay.Q54769397
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)156-162
P577publication date2007-08-01
P1433published inPediatric ResearchQ7159215
P1476titleThe ocular anomalies in a cystinosis animal model mimic disease pathogenesis
P478volume62

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cites work (P2860)
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Q36219639Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector
Q38961757Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy
Q40038745Exacerbating and reversing lysosomal storage diseases: from yeast to humans
Q39968431Gene transfer may be preventive but not curative for a lysosomal transport disorder.
Q64923813Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Q27023975Is genetic rescue of cystinosis an achievable treatment goal?
Q37002855Nephropathic cystinosis: late complications of a multisystemic disease
Q57644373Nonproliferative and Proliferative Lesions of the Ratand Mouse Special Sense Organs(Ocular [eye and glands], Olfactory and Otic)
Q88779781Potential use of stem cells as a therapy for cystinosis
Q28506311Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse
Q37786450The pathogenesis of cystinosis: mechanisms beyond cystine accumulation
Q38781097The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives
Q36267895Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

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