Lista de obras - Vasiliki Kalatzis - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 1997

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.

artículo científico publicado en 1994

BOR and BO syndromes are allelic defects of EYA1

artículo científico publicado en 1997

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.

artículo científico publicado en 2001

Choroideremia: towards a therapy

artículo científico publicado en 2013

Clinical Evaluation and Cone Alterations in Choroideremia

artículo científico publicado en 2016

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

artículo científico publicado en 1997

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

artículo científico publicado en 2012

Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

Cystinosis: from gene to disease

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 1998

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2022

Immunolocalization of cystinosin, the protein defective in cystinosis

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 1998

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

artículo científico publicado en 2004

New aspects of the pathogenesis of cystinosis.

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2021

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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 1992

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

artículo científico publicado en 2001

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Lista de obras de 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