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Browsing Articles by Subject "ADPKD"

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    A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease
    (Ali et al. BMC Nephrology, 2015) Ali, Hamad; Hussain, Naser; Naim, Medhat; Zayed, Mohamed; Al-Mulla, Fahd; Kehinde, Elijah; Seaburg, Lauren; Sundsbak, Jamie; Harris, Peter
    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.