An over-representation of severe HPE was found in patients whose mutations confer greater loss of function, as measured by the functional zebrafish assay.
As such, the C282Y variant is associated with greater loss of function compared to the H63D variant, resulting in increased iron transfer in the gut.
These methods use support vector machine (SVM) models, trained on monogenic disease mutations and a control set, and classify each missense SNP as high or low impact on in vivo protein function, where high impact corresponds to approximately a five fold or greater loss of function [ 32, 41].
In the two animals displaying the greatest loss of vestibular function, we found several calyx units that were fragmented; thus, regions of the basolateral membrane of the HCIs that are normally covered by the calyx ending were not (Fig. 3E).
We hypothesized that compared to non-progressors, patients who enter stage 3 CKD and ultimately progress have experienced greater loss of renal function, manifested by impairment of metabolic function (anemia, worsening acidosis and mineral abnormalities), than is reflected in the eGFR at entry to stage 3.
The study found that among a small group of test subjects, people with nocturnal asthma whose melatonin levels were higher had a greater loss of lung function during sleep.
Thus, depressed patients may fail to respond to standard medical treatment due to the nature of their mental health problems, and may experience a greater loss of lung function than necessary.
The mean ratio of FEV1 was 0.92 vs 0.77 in controls versus cases, respectively, between pre-9/11 and SPE testing, p<0.001, demonstrating a significantly greater loss of lung function in cases as compared with controls, even when analysed individually.
The rate of pulmonary function decline is directly related to the severity of insulin insufficiency; when followed for 4 years after a baseline OGTT, patients with IGT had a greater loss of lung function than those with NGT, and those with CFRD FH− had the greatest loss (63).
