Julie M McGaughran

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COMMD1 deficiency results in defective copper homeostasis, but the mechanism for this has remained elusive. Here we report that COMMD1 is directly linked to early endosomes through its interaction with a protein complex containing CCDC22, CCDC93, and C16orf62. This COMMD/CCDC22/CCDC93 (CCC) complex interacts with the multisubunit WASH complex, an(More)
Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no specific treatment options for DCM patients but heart transplantation. Here, we show the beneficial(More)
BACKGROUND Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic(More)
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative(More)
BACKGROUND Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of disorders accounting for approximately 10 % of those diagnosed with kidney disease. The advent of Next Generation sequencing and new approaches to disease modelling may allow the identification and validation of novel genetic variants in patients with previously(More)
Approximately 5% of all endometrial cancers are due to a hereditary disposition, and a majority of the cases were found in families with Lynch syndrome or hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Whilst both men and women with Lynch syndrome have a significantly increased risk of developing colorectal cancer (18-69%), women face the(More)
Uniparental disomy (UPD) occurs when both homologs of a chromosomal pair come from the father (paternal UPD) or the mother (maternal UPD). Depending on the mechanism by which it arises [Engel, 2006; Robinson, 2000], it can lead to heterodisomy (where both homologous chromosomes from the same parent are present), isodisomy (where two copies of the same(More)
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