Sentence examples for mutations causing familial from inspiring English sources

Our approach to these open questions is the study of the functional consequences of mutations causing familial hemiplegic migraine type 1 and type 2 (FHM1 and FHM2).

Another consideration is the role of autosomal dominant mutations causing familial AD.

To determine the frequency and spectrum of mutations causing Familial Hypercholesterolaemia (FH) in patients attending a single UK specialist hospital lipid clinic in Oxford and to identify characteristics contributing to a high mutation detection rate.

Interestingly, this GWAS identified genes that harbor pathogenic mutations causing familial hypercholesterolemia, such as the LDLR and PCSK9 genes, both of which were also found to be associated with CAD [ 3].

Other mutations causing familial variants of PD involve genes that protect against mitochondrial dysfunction (PINK-1) and oxidative stress (DJ-1), all of which are pathological processes that have been implicated in idiopathic PD.

Genetic mutations causing familial sinus bradycardia have been described, particularly affecting the HCN4 cardiac ion channel, 24 25 26 and a familial genetic predisposition could explain the increased rates of pacemaker insertion in our Brady cohort.

In a search for possible candidate genes that are associated with conditions such as inflammation of the bowel, as well as other organs, we became interested in the gene MEFV, in which a number of mutations cause Familial Mediterranean Fever (FMF).

Multiplications of the αSynuclein gene, as well as point mutations cause familial PD.

A variety of genetic mutations cause familial ALS, with a proportion (20%%) of these cases due to mutations in superoxide dismutase 1 (SOD1) [ 13].

Inherited APC mutations cause familial adenomatous polyposis (FAP); a condition in which patients develop hundreds of intestinal polyps, some of which inevitably progress to cancer.

DOI: http://dx.doi.org/10.7554/eLife.07839.007 GATA2 mutations cause familial MDS, which is frequently characterized by −7/del 7q) (Hahn et al., 2011; Bodor et al., 2012; Pasquet et al., 2013).