Autophagy in granular corneal dystrophy type 2.
Seoul, South Korea. In Exp Eye Res, Mar 2016
GCD2 is an autosomal dominant disorder caused by substitution of histidine for arginine at codon 124 (R124H) in the transforming growth factor β-induced gene (TGFBI) on chromosome 5q31.
Mutational Spectrum of Korean Patients with Corneal Dystrophy.
Seoul, South Korea. In Clin Genet, Feb 2016
Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%.
Facts and fictions about polymorphism.
Basel, Switzerland. In Chem Soc Rev, Jan 2016
We present new facts about polymorphism based on (i) crystallographic data from the Cambridge Structural Database (CSD, a database built over 50 years of community effort), (ii) 229 solid form screens conducted at Hoffmann-La Roche and Eli Lilly and Company over the course of 8+ and 15+ years respectively and (iii) a dataset of 446 polymorphic crystals with energies and properties computed with modern DFT-d methods.
MC1R germline variants confer risk for BRAF-mutant melanoma.
Bethesda, United States. In Science, 2006
The majority of melanomas that occur on skin with little evidence of chronic sun-induced damage (non-CSD melanoma) have mutations in the BRAF oncogene, whereas in melanomas on skin with marked CSD (CSD melanoma) these mutations are less frequent.