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Gene mutation case study

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To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty-eight mutation-positive individuals, available family members, and 62 mutation-negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium LD to evaluate the significance of shared haplotypes. Furthermore, the most frequent Parkin exon deletion Ex4del arose independently in 2 of our subjects.

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The Elsevier Professional Services Group specializes in data science, informatics, chemistry, pre-clinical research, and clinical development. These case studies provide a view into the many ways they help customers advance science and solve complex data challenges. See how a pharmaceutical company was able to rely on a customized database created by the Professional Services team to help find reported mutations in cancer cells. Read the case study. Find out how the Professional Services team helped breathe new life into a drug by helping a pharmaceutical company assess supporting evidence and find alternative indications. Find out how a pharmaceutical company was able to harvest research data, normalize it and integrate it into a single database boosting accessibility and collaboration. Learn how a pharmaceutical company was able to rely on our comprehensive strategy for screening scientific literature, reporting adverse events and ensuring compliance.

MTHFR gene

Metrics details. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, whereas others have no proven impact. BRCA mutations are well known to be associated with breast, uterine, and ovarian cancers along with some nongynecological malignancies involving the peritoneum, prostate, pancreas, skin, stomach, and rectum. However, there are no reported cases to date of an association between carcinoid tumors and a BRCA mutation.
The method, developed and tested in mice and human tissue cultures by researchers at Penn State, involves inserting a new, fully functional copy of the gene that displaces the mutated gene. A proof-of-concept for the approach is described in a paper appearing online April 20 in the journal Molecular Therapy. In this process, Cas9—a bacterial protein—cuts DNA at a specific location, where the genetic sequence can then be edited, trimmed, or a new sequence inserted before the DNA is repaired.

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