Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals.

Biodegradation of herbicide (atrazine) in contaminated soil using various bioprocessed materials.

The concept of biostimulation i.e. enhancing the intrinsic degradation potential of a polluted matrix via the addition of amendments, nutrients, or other limiting factors has been used for a wide variety of xenobiotics.

Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited.