Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...

We use individual and aggregate data to ask how the Internet is changing the ideological segregation of the American electorate. Focusing on online news consumption, offline news consumption, and face-to-face social interactions, we define ideological segregation in each domain using standard indices from the literatureonracial segregation. Wefindthat ideological segregationofonlinenews consump...

During cell division, copies of mouse chromosome 7 are segregated selectively or randomly to daughter cells depending on the cell type. The mechanism for differential segregation is unknown. Because mouse left-right dynein (LRD) gene mutations result in randomization of visceral organs' laterality, we hypothesized that LRD may also function in selective chromatid segregation. Indeed, upon knock...

Sexual segregation occurs when members of a species separate such that the sexes live apart, either singly or in single-sex groups. It can be broadly categorised into two types: habitat segregation and social segregation. Sexual segregation is a behavioural phenomenon that is widespread in the animal kingdom yet the underlying causes remain poorly understood. Sexual segregation has been widely ...

Chemical composition of interfaces—free surfaces and grain boundaries—is generally described by the Langmuir–McLean segregation isotherm controlled by Gibbs energy of segregation. Various components of the Gibbs energy of segregation, the standard and the excess ones as well as other thermodynamic state functions—enthalpy, entropy and volume—of interfacial segregation are derived and their phys...

In Spain, recruiting and promotion procedures in the public sector would appear to leave less room for gender discrimination than in the private sector. Employing data for 1977 and 1992, this paper explores the consequences of these procedures for gender segregation using an additive segregation index based on the entropy concept. It is found that gender segregation in the private sector is sig...

Although racial residential segregation is associated with preterm birth (PTB) among non-Hispanic black (NHB) women in the U.S., prior work suggests that increased black political power arising from segregation may be protective for infant health. We examined associations between residential segregation, black political representation, and preterm birth (PTB) among U.S- and foreign-born NHB wom...