List of works - Petra Lišková

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

scientific article published on 10 June 2016

Analysis of KERA in four families with cornea plana identifies two novel mutations.

scientific article published on 5 July 2017

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

scientific article

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

scientific article

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

article

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

scientific article published on 17 April 2019

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

scientific article published on 08 February 2019

CUGC for posterior polymorphous corneal dystrophy (PPCD)

scientific article published on 14 June 2019

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas

scientific article published on 03 October 2012

Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy

scientific article published on 09 January 2009

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

scientific article published on 01 June 2019

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

scientific article published on 01 August 2021

Copper in Keratoconic Corneas.

scientific article

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

scientific article published on 8 July 2013

Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S)

scientific article published on 22 October 2009

Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy

scientific article published on January 2012

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

scientific article published on 11 December 2014

Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies

article

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

scientific article published in March 2018

Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers

scientific article published in September 2010

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

scientific article published on 19 May 2020

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

scientific article

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

scientific article published on October 2013

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

scientific article published on 28 October 2015

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

scientific article

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

scientific article published on 01 December 2014

Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients

scientific article published on 15 December 2006

Is copper imbalance an environmental factor influencing keratoconus development?

article

Keratoconus in 18 pairs of twins.

scientific article published on 8 June 2012

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

scientific article

Macular corneal dystrophy and associated corneal thinning.

scientific article

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

scientific article published in March 2011

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

scientific article published on 28 December 2006

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

scientific article published on 7 February 2013

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

scientific article published on 30 March 2016

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy ⬇️

scientific article published on June 2007

OPA1 analysis in an international series of probands with bilateral optic atrophy

scientific article

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

scientific article published on 02 May 2019

Peripapillary microcirculation in Leber hereditary optic neuropathy

scientific article published on 26 September 2018

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families

scientific article published on 6 February 2008

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

scientific article published on 25 April 2016

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

scientific article published on 13 June 2020

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

article

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

scientific article published on 10 May 2020

Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium

scientific article published on 22 June 2011

Replication of SNP associations with keratoconus in a Czech cohort

scientific article

Role of matrix metalloproteinases in recurrent corneal melting

scientific article published in May 2010

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

scientific article published on 15 March 2018

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

article

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation

article

The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas

scientific article published on 28 July 2015

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

scientific article published on 07 March 2019

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

scientific article published on 19 February 2016

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

scientific article published on 4 March 2015

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene

scientific article published on December 2010

List of works by Petra Lišková

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas

Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Copper in Keratoconic Corneas.

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S)

Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients

Is copper imbalance an environmental factor influencing keratoconus development?

Keratoconus in 18 pairs of twins.

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

Macular corneal dystrophy and associated corneal thinning.

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy ⬇️

OPA1 analysis in an international series of probands with bilateral optic atrophy

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

Peripapillary microcirculation in Leber hereditary optic neuropathy

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium

Replication of SNP associations with keratoconus in a Czech cohort

Role of matrix metalloproteinases in recurrent corneal melting

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation

The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene