Sentences with phrase «identifying additional mutations»

Not exact matches

Jaenisch says that the method that identified the single point mutation in SNCA's enhancer could be used to pinpoint additional pathogenic genes for sporadic PD and sift through the GWAS hits for other diseases, including Alzheimer's disease, cancer, diabetes, and multiple sclerosis.

Additional sequencing led the researchers to identify a previously unknown mutation on the X-chromosome that may be associated with cases of ovarian cancer that develop more than 6 years earlier that average.

And researchers can not yet easily distinguish between mutations that are driving the cancer process versus those that are essentially artifacts of that process, without doing additional experiments once they have been identified.

In the Journal of Biological Chemistry, Sonia Aguila and colleagues at the Universidad de Murcia describe how they identified an additional set of antithrombin deficiency — associated mutations in the distal region of antithrombins and showed that this domain is essential for the final steps of thrombin inhibition.

Given the possibility that there may be additional JAK2 mutations in AML, we resequenced all coding exons of JAK2 in 93 AML samples and did not identify additional JAK2 mutations.

Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU.

In these analyses, we identify and subsequently analyze a set of 107 autosomal genes with a false discovery rate (FDR) of < 30 %; in total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional cases.

In some breeds, such as the French Bulldog, additional mutations not identified may affect eumelanin production.