Abstract 1. The body that organized and published the results of the Scottish Mental Surveys
of 1932 and 1947 (SMS1932 and SMS1947) was the Scottish Council for Research in
Education (SCRE; Craigie, 1972). For most of its history, the SCRE was an autonomous ...

Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive
developmental disorders characterized by brain, eye, and endocrine abnormalities.
Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these ...

Genetic analyses have revealed an association between the gene encoding the Rab3A‑
interacting molecule (RIM1) and the autosomal dominant cone‑rod dystrophy CORD7.
However, the pathogenesis of CORD7 remains unclear. We recently revealed that RIM1 ...

X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an
increased cornea diameter and deep anterior chamber evident at birth and later onset of
mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We ...

Abstract Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa,
macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in
hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 ...

The photoreceptor cells of the retina are subject to a wide range of genetic diseases. This
review summarizes current knowledge regarding an important group of retinal diseases
caused by mutations in photoreceptor-enriched genes. In addition, progress toward ...

This review considers pharmacogenetics of the so called 'second-generation'antipsychotics.
Findings for polymorphisms replicating in more than one study are emphasized and
compared and contrasted with larger-scale candidate gene studies and genome-wide ...

Abstract Human culture has evolved through a series of major tipping points in information
storage and communication. The first was the appearance of language, which enabled
communication between brains and allowed humans to specialize in what they do and to ...

抄録: Active zones are highly specialized sites for release of neurotransmitter in presynaptic
nerve terminals. The spacing between voltage-dependent calcium channels (VDCCs) and
synaptic vesicles at active zones is thought to infl uence the dynamic properties of ...

Abstract Retinal dystrophies (RDs) are degenerative diseases of the retina which have
marked clinical and genetic heterogeneity. Common presentations among these disorders
include night or colour blindness, tunnel vision and subsequent progression to complete ...