Mathilde S. Vermeer

Groningen, GR 9700RB, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Disease models and AAV therapies of PKP2-induced arrhythmogenic cardiomyopathy.

Disease models and AAV therapies of PKP2-induced arrhythmogenic cardiomyopathy.

Journal: Molecular therapy. Advances
Published: May 15, 2026

Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy.

Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy.

Journal: JACC. Case reports
Published: February 16, 2026

Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.

Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.

Journal: Experimental dermatology
Published: January 07, 2025

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.

Journal: Experimental dermatology
Published: October 18, 2023

Clinical Outcome in KLHL24 Cardiomyopathy.

Clinical Outcome in KLHL24 Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine
Published: May 16, 2023

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Journal: The Journal of investigative dermatology
Published: February 14, 2023

Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues.

Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues.

Journal: JACC. CardioOncology
Published: November 01, 2022

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Journal: International journal of molecular sciences
Published: August 08, 2022

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

Journal: The British journal of dermatology
Published: June 02, 2022

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Journal: Experimental dermatology
Published: July 29, 2021

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.

Journal: The Journal of investigative dermatology
Published: June 29, 2020

Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.

Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.

Journal: Science translational medicine
Published: June 05, 2020
Showing 1-12 of 13

Last Updated: 09/26/2026