Sentence examples for mutations causing rare from inspiring English sources

PD is a sporadic, idiopathic disorder in most patients, but the identification of genetic mutations causing rare Mendelian forms of parkinsonism has provided novel clues for understanding of the disease pathogenesis [3], [4].

SOD1 mutations cause rare familial forms of ALS and have provided the most widely studied animal models.

In fact, the power of this technology to unravel genes whose germline mutations cause rare mendelian disorders is exemplified by the identification of MYH3 germline mutations as a cause of Freeman-Sheldon syndrome through the targeted sequencing of all protein-coding regions (exomes) of four individuals with this syndrome and eight unrelated individuals [ 19].

Several years ago, she was trying to determine how a gene mutation causes rare leukaemias.

We explore the possibility that mutations causing the rare RyR-linked arrhythmias will open the door to identification of novel RyR-based therapeutic agents.

In his award-winning essay, "One brain, many genomes," which will be published in the 4 November issue of Science, Evrony describes how single-cell sequencing was used to study the first brain-specific somatic mutations causing a rare congenital brain malformation known as hemimegalencephaly.

After the early encouraging findings of the mutations causing the rare Mendelian forms of migraine (familial hemiplegic migraine, FHM) and the loci identified in the first linkage scan for common migraine [ 4], progress has been slow.

Massively parallel sequencing can be applied to germline DNA for gene association studies and for the analysis of cancer genomes [ 8- 14], and may constitute a paradigm shift in the way mutations that cause rare diseases can be identified.

TPI mutations cause a rare metabolic syndrome, TPI deficiency.

These recessive mutations cause a rare form of FH called autosomal recessive hypercholesterolemia (ARH), a condition resembling HoFH [ 15].

MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia.