Sunil Mahurkar

TL;DR: Analysis of patient and tumor characteristics revealed that certain mutation subtypes were significantly associated with Fuhrman nuclear grade, metastasis, node positivity, and self-reported family history of RCC, indicating that VHL molecular subtypes can provide a sensitive marker of tumor heterogeneity among histologically similar ccRCC cases for etiologic, prognostic, and translational studies.

TL;DR: Nonsynonymous mutations in the UBIAD1 gene were detected in six SCCD families, and a potential mutation hot spot was observed at amino acid N102, where a prenyl-transferase domain and several transmembrane helices are affected by these mutations.

TL;DR: This review will summarize the existing literature examining the pharmacogenomics of IFN-β and GA response in MS patients and recommend a number of novel approaches to optimize therapy to treat MS more efficiently.

TL;DR: In this article, the authors further characterize the mutation spectrum of SCCD and identify structural and functional consequences for UBIAD1 protein activity, including ligand binding and interaction with binding partners, like apo E. The results suggest that N102S may be a mutation hot spot.

TL;DR: To identify IFN-β treatment response genetic marker(s) by performing a two-stage genome-wide association study (GWAS), eight single-nucleotide polymorphisms (SNP) showed evidence of association with treatment response.