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Pavlína Skalická

Charles University

Czech Republic

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Research Interests

Cell Biology

80%

Immunology

20%

Cornea

60%

Medical Science

50%

Retinal Disease

50%

Ophthalmology

40%

Mouse Genetics

30%

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Articles15

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

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Year:

2024

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

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Year:

2024

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

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Year:

2023

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

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Year:

2023

Novel disease‐causing variants and phenotypic features of X‐linked megalocornea

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Year:

2022

Presence of Protease Inhibitor 9 and Granzyme B in Healthy and Pathological Human Corneas.

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Year:

2022

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.

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Year:

2022

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

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Year:

2022

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

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Year:

2021

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

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Year:

2021

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

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Year:

2021

The micronucleus cytome assay - A fast tool for DNA damage screening in human conjunctival epithelial cells.

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Year:

2021

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

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Year:

2021

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel <i>PRSS56</i> Variant.

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Year:

2020

Dupilumab therapy in a patient with atopic dermatitis and severe atopic keratoconjunctivitis.

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Year:

2020

Collaborators15

Katerina Jirsova

Charles University

CZECH REPUBLIC

Valeria Lo Faro

University Medical Center Groningen

NETHERLANDS

Stephen Tuft

University College London

UNITED KINGDOM

Christopher Inglehearn

University of Leeds

UNITED KINGDOM

Mark Simcoe

University College London

UNITED KINGDOM

Lenka Noskova

Charles University

CZECH REPUBLIC

Alice Davidson

Professor of Molecular Genetics

University College London

UNITED KINGDOM

Olga Ulmanová

General Faculty Hospital, 1st Medical Faculty of Charles University

CZECH REPUBLIC

Petra Liskova

Charles University in Prague

CZECH REPUBLIC

Michael Cheetham

University College London

UNITED KINGDOM

Jessica Chong

University of Washington

UNITED STATES

Alison Hardcastle

University College London

UNITED KINGDOM

Hana Hartmannova

Charles University

CZECH REPUBLIC

Lubica Dudakova

Charles University

CZECH REPUBLIC

Thomas Müller

Medical University of Innsbruck

AUSTRIA

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