Sentence examples for gene mutation identified from inspiring English sources

A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC).

The molecular basis of adHGF remains largely unknown, with only a single SOS1 gene mutation identified so far at the gingival fibromatosis 1 (GINGF1) locus in one family.

Across studies of differing design, up to 72% of colorectal cancer and 64% of endometrial cancer cases with tumor MMR deficiency do not have an MMR gene mutation identified by standard MMR gene testing approaches, nor do they show somatic MLH1 promoter methylation, depending on the gene and the population studied.

Mutations associated with Probe E (58%) also known as codons 531and 533 are the commonest rpoB gene mutation identified by Xpert® MTB/RIF assay in this setting and mutations identified by probe E of the assay, turned out to be MDR-TB strains by agar proportion method antimicrobial susceptibility testing.

The first gene mutation identified to be causing heart disease was reported in 1993 [ 6]; since then, more than 1400 mutations have been detected in at least 20 genes [ 7] that encode sarcomere proteins, calcium-handling proteins, Z-disc proteins, and so forth.

Table 2 indicates a set of "actionable" cancer gene mutations identified herein.

This study did not determine if the PTEN gene mutations identified were somatic or germline [ 138].

Among the gene mutations identified to date, we have attempted to clarify that RUNX1 mutations are a pivotal player in the molecular pathogenesis of MDS.

In comparison with the previous study of beta-thalassemia mutations in Thailand, this revealed that the frequency of beta-globin gene mutations identified in our study was different.

Here, we present the clinical and molecular characterization of novel, recessive LRPPRC gene mutations, identified using whole exome and candidate gene sequencing.

Epigenetic aberrations arise early in the carcinogenesis process, preceding classical gene mutations identified in the specific pathophysiology of each of the 300 types of human cancer.