List of works - Vasiliki Kalatzis

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

scientific article

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

scientific article published on 11 September 2019

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

scientific article

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.

scientific article published in October 1994

BOR and BO syndromes are allelic defects of EYA1

scientific article

Branchio-otic syndromes imbroglio

scientific article published on 01 February 1999

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

article

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

scientific article

Choroideremia: towards a therapy

scientific article

Clinical Evaluation and Cone Alterations in Choroideremia

scientific article published on 15 March 2016

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

scientific article

Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants.

scientific article

Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain

scientific article published on 17 December 2013

Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector

scientific article

Cultured Cells from the Human Oocyte Cumulus Niche Are Efficient Feeders to Propagate Pluripotent Stem Cells

scientific article

Cystine accumulation in the CNS results in severe age-related memory deficits

scientific journal article

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

scientific article

Cystinosis: from gene to disease

scientific article (publication date: November 2002)

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

scientific article published in Scientific Reports

Exogenous LRRK2G2019S induces parkinsonian-like pathology in a nonhuman primate

scientific article published on 26 July 2018

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

scientific article

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

scientific article published on 21 June 2016

Gene transfer may be preventive but not curative for a lysosomal transport disorder.

scientific article

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

scientific article published on 16 November 2018

Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy

scientific article published on 07 June 2019

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis

scientific article published on 03 June 2019

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

scientific article published on 10 November 2018

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

scientific article published on 23 May 2019

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

scientific article published on 27 November 2019

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy.

scientific article published on 8 May 2018

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

scientific article

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

scientific article published in December 2002

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

scientific article published in 2022

Immunolocalization of cystinosin, the protein defective in cystinosis

scientific article

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

scientific journal article

Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons

scientific article published in Scientific Reports

Mapping of the chromosome 11 breakpoint of the t(4;11)(q21;p14–15) translocation

scientific article published on 01 September 1993

Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome

scientific article published on 01 January 1998

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

scientific article

New aspects of the pathogenesis of cystinosis.

scientific article

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

scientific article published on 01 June 2019

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

scientific article published in September 2017

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

scientific article published on 08 November 2018

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

scientific article

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

scientific article published in 2021

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

scientific article published on 21 October 2009

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants

scientific article published on 23 September 2010

Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal

scientific article published on 05 March 2013

The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution

scientific article

The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

article

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

scientific article published in 2021

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

scientific article

The fundamental and medical impacts of recent progress in research on hereditary hearing loss ⬇️

scientific article published on January 1, 1998

The gene for the human IgA Fc receptor maps to 19q13.4

scientific article (publication date: April 1992)

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

scientific article

ZIKA virus efficiently replicates in human retinal pigment epithelium and disturbs its permeability

scientific article (publication date: 16 November 2016)

Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium

scientific article

List of works by Vasiliki Kalatzis

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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.

BOR and BO syndromes are allelic defects of EYA1

Branchio-otic syndromes imbroglio

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

Choroideremia: towards a therapy

Clinical Evaluation and Cone Alterations in Choroideremia

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants.

Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain

Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector

Cultured Cells from the Human Oocyte Cumulus Niche Are Efficient Feeders to Propagate Pluripotent Stem Cells

Cystine accumulation in the CNS results in severe age-related memory deficits

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

Cystinosis: from gene to disease

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

Exogenous LRRK2G2019S induces parkinsonian-like pathology in a nonhuman primate

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

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.

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy.

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

Immunolocalization of cystinosin, the protein defective in cystinosis

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons

Mapping of the chromosome 11 breakpoint of the t(4;11)(q21;p14–15) translocation

Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

New aspects of the pathogenesis of cystinosis.

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants

Side scatter intensity is highly heterogeneous in undifferentiated pluripotent stem cells and predicts clonogenic self-renewal

The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution

The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

The fundamental and medical impacts of recent progress in research on hereditary hearing loss ⬇️

The gene for the human IgA Fc receptor maps to 19q13.4

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

ZIKA virus efficiently replicates in human retinal pigment epithelium and disturbs its permeability

Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium