Publications by authors named "Mathilde C S C Vermeer"

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Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.
Maria C Bolling, Mathilde C S C Vermeer

Exp Dermatol· April 2025

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Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Daniela Andrei, Jeroen Bremer, Duco Kramer, Albertine M Nijenhuis, Marije van der Molen, Mathilde C S C Vermeer

Exp Dermatol· March 2024

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Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Annemieke J M H Verkerk, Daniela Andrei, Mathilde C S C Vermeer, Duco Kramer, Marloes Schouten

J Invest Dermatol· February 2024

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Clinical Outcome in Cardiomyopathy.
Mathilde C S C Vermeer, Karla F Arevalo Gomez, Martijn F Hoes, Jasper Tromp, Job A J Verdonschot

Circ Genom Precis Med· August 2023

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Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues.
Annet N Linders, Itamar B Dias, Ekaterina S Ovchinnikova, Mathilde C S C Vermeer, Martijn F Hoes

JACC CardioOncol· June 2023

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A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Mathilde C S C Vermeer, Mohammad Al-Shinnag, Herman H W Silljé, Antonio Esquivel Gaytan, Dedee F Murrell

Br J Dermatol· December 2022

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Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Mathilde C S C Vermeer, Daniela Andrei, Luisa Marsili, J Peter van Tintelen, Herman H W Silljé

Int J Mol Sci· September 2022

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Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
Mathilde C S C Vermeer, Herman H W Silljé, Hendri H Pas, Daniela Andrei, Peter van der Meer

J Invest Dermatol· August 2022

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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Mathilde C S C Vermeer, Daniela Andrei, Duco Kramer, Albertine M Nijenhuis, Yvonne M Hoedemaekers

Exp Dermatol· June 2022

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Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.
Jacqueline M Bliley, Mathilde C S C Vermeer, Rebecca M Duffy, Ivan Batalov, Duco Kramer

Sci Transl Med· July 2021

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