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Novel truncating mutations in pkp1 and dsp cause similar skin phenotypes in two brazilian families
Inherited mutations in components of desmosomes result in a spectrum of syndromes characterized by variable abnormalities in the skin and its appendages, including blisters and erosions, palmoplantar hyperkeratosis, woolly hair or hypotrichosis and, in some cases, extracutaneous features such as cardiomyopathy. We investigated the molecular basis of two
Novel truncating mutations in pkp1 and dsp cause similar skin phenotypes in two brazilian families...

Disparate effects of different mutations in plakoglobin on cell mechanical behavior
In this study, we examined the effects of two different mutations in plakoglobin on cell migration, stiffness, and adhesion. One is a C-terminal mutation causing Naxos disease, a recessive syndrome of arrhythmogenic right ventricular cardiomyopathy (ARVC) and abnormal skin and hair. The other is an N-terminal mutation causing
Disparate effects of different mutations in plakoglobin on cell mechanical behavior...

[original articles] idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
Background: Restrictive cardiomyopathy (RCM) is rare in childhood, but has a grave prognosis. The cause of disease in most cases is unknown. Objective: To determine the prevalence of sarcomere protein gene mutations in children with idiopathic RCM. Methods: Twelve patients (9 female, mean age 5.1 years) with idiopathic RCM referred between 1991 and
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Dna polymerase [eta] is a limiting factor for a:t mutations in ig genes and contributes to antibody affinity maturation
DNA polymerase [eta] (POLH) is required for the generation of A:T mutations during the somatic hypermutation of Ig genes in germinal center B cells. It remains unclear, however, whether POLH is a limiting factor for A:T mutations and how the absence of POLH might affect antibody affinity
Dna polymerase [eta] is a limiting factor for a:t mutations in ig genes and contributes to antibody affinity maturation...

Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis
Inherited thrombophilia has been shown to be a risk factor for cardiovascular disease including deep venous thrombosis as well as reproductive disorders including recurrent pregnancy loss. We have previously reported three out of the 10 thrombophilic mutations studied, plasminogen activator inhibitor-1 (PAI-1) 4G/5G, factor XIII V34L, and homozygous
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[original articles] exercise-induced systolic dysfunction in patients with non-obstructive hypertrophic cardiomyopathy and mutations in the cardiac troponin genes
Objectives: The aim of this study was to investigate left ventricular (LV) function reserve in hypertrophic cardiomyopathy (HCM) patients with and without cardiac troponin gene mutations before transition to the dilated phase. Methods: LV ejection fraction (EF) was continuously evaluated in 52 patients with non-obstructive HCM during supine ergometer exercise using
[original articles] exercise-induced systolic dysfunction in patients with non-obstructive hypertrophic cardiomyopathy and mutations in the cardiac troponin genes...

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