Associated Papers
Naxos Disease and Related Cardio-Cutaneous Syndromes.
Protonotarios A et al.
Jacc. Advances, 2025
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.
Vallverdú-Prats M et al.
International Journal of Molecular Sciences, 2022
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Vahidnezhad H et al.
Scientific Reports, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
[Syndromes with skin fragility].
Reimer A et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2019
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A et al.
International Journal of Dermatology, 2018
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Boente Mdel C et al.
The British Journal of Dermatology, 2016
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
Polivka L et al.
Journal of Medical Genetics, 2016
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.
Finsterer J et al.
Clinical Medicine Insights. Cardiology, 2016
Beyond cell adhesion: the role of armadillo proteins in the heart.
Swope D et al.
Cellular Signalling, 2013
Cell-cell connectivity: desmosomes and disease.
Brooke MA et al.
The Journal of Pathology, 2012
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.
Erken H et al.
The British Journal of Dermatology, 2011
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
Pigors M et al.
Human Molecular Genetics, 2011
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Cabral RM et al.
The Journal of Investigative Dermatology, 2010