about
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, CtnsThe targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motifImmunolocalization of cystinosin, the protein defective in cystinosisA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyMolecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosinThe Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo BiodistributionZIKA virus efficiently replicates in human retinal pigment epithelium and disturbs its permeabilityCystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterCystinosis: from gene to diseaseThe gene for the human IgA Fc receptor maps to 19q13.4BOR and BO syndromes are allelic defects of EYA1Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndromeCystine accumulation in the CNS results in severe age-related memory deficitsA Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeIntralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisCharacterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants.New aspects of the pathogenesis of cystinosis.Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.Cultured Cells from the Human Oocyte Cumulus Niche Are Efficient Feeders to Propagate Pluripotent Stem CellsCorrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector.Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain.Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal.Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.Gene transfer may be preventive but not curative for a lysosomal transport disorder.Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.Renal phenotype of the cystinosis mouse model is dependent upon genetic background.Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.Choroideremia: towards a therapy.Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.The fundamental and medical impacts of recent progress in research on hereditary hearing loss.A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.Clinical Evaluation and Cone Alterations in Choroideremia.Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy.The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.Exogenous LRRK2G2019S induces parkinsonian-like pathology in a nonhuman primateThe Ocular Anomalies in a Cystinosis Animal Model Mimic Disease PathogenesisMolecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndromeCharacterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome
P50
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P50
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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Vasiliki Kalatzis
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P106
P21
P31
P496
0000-0002-9626-8807
P569
2000-01-01T00:00:00Z