Associated Papers
Homozygous JUP variant in Naxos disease: a case report of cardiac and dermatological involvement.
de la Puente Alonso M et al.
Clinical and Experimental Dermatology, 2025
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Vahidnezhad H et al.
Scientific Reports, 2020
Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities.
Oktem A et al.
Clinical and Experimental Dermatology, 2020
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Beyond cell adhesion: the role of armadillo proteins in the heart.
Swope D et al.
Cellular Signalling, 2013
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
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