Detalhe da pesquisa
1.
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Exp Dermatol
; 33(3): e15046, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509711
2.
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Exp Dermatol
; 31(6): 970-979, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325485
3.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Br J Dermatol
; 187(6): 1045-1048, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975634
4.
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Int J Mol Sci
; 23(18)2022 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142674
5.
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
J Invest Dermatol
; 144(2): 284-295.e16, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716648
6.
Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues.
JACC CardioOncol
; 5(3): 298-315, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37397084
7.
Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.
Sci Transl Med
; 13(603)2021 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34290054
8.
Clinical Outcome in KLHL24 Cardiomyopathy.
Circ Genom Precis Med
; 16(4): 401-403, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191012
9.
Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
J Invest Dermatol
; 142(8): 2271-2274.e6, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031308