Dopamine metabolism was studied in dystrophic retinal degeneration slow (rds) mice which carry a mutation in the rds/peripherin gene. RDS mutations in humans cause several forms of retinal degeneration. Dopamine synthesis and utilization were analyzed at various time points in the diurnal cycle in homozygous rds/rds retinas which lack photoreceptor outer segments and heterozygous rds/+ retinas ...

BACKGROUND The European Union defines rare diseases (RDs) as life-threatening or chronically debilitating conditions whose prevalence is less than 5 per 10,000. Moreover, for many RDs, including those of genetic origin, combined efforts are required to reduce morbidity or perinatal or early mortality, and address the considerable decline in an individual's quality of life and socioeconomic pote...

Peripherin/rds (P/rds ) is a membrane glycoprotein essential for the photoreceptor outer segment disc morphogenesis and maintenance. More than half of the disease-causing mutations in P/rds have been linked to different forms of macular dystrophy; the most common one is substitution of tryptophan for arginine at position 172 (R172W). Here we confirm the patient phenotype associated with the exp...

Mutations in the photoreceptor protein peripherin-2 (also known as RDS) cause severe retinal degeneration. RDS and its homolog ROM-1 (rod outer segment protein 1) are synthesized in the inner segment and then trafficked into the outer segment where they function in tetramers and covalently linked larger complexes. Our goal is to identify binding partners of RDS and ROM-1 that may be involved in...

BACKGROUND Registered dietitians (RDs) play a key role in disseminating information about nutrition and intervening in nutrition-related disorders in the Canadian context. Natural health products (NHPs) are increasingly associated with nutrition in patient and health professional discussions. For this study, NHPs were divided into three categories: nutritional supplements (NS); functional foods...

It is unclear how unconventional secretion interplays with conventional secretion for the normal maintenance and renewal of membrane structures. The photoreceptor sensory cilium is recognized for fast membrane renewal, for which rhodopsin and peripherin/rds (P/rds) play critical roles. Here, we provide evidence that P/rds is targeted to the cilia by an unconventional secretion pathway. When exp...

BACKGROUND Information on the time until institutionalization and its predictors in demented subjects has so far been based on studies with selected samples or prevalent dementia cases. Thus, the aim of the study is to analyze the time until institutionalization and associated patient-related factors in incident dementia cases. METHODS Data were derived from the Leipzig Longitudinal Study of ...

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, se...

BACKGROUND Respondent-driven sampling (RDS) is a method successfully used to research hard-to-access populations. Few studies have explored the use of the Internet and social media with RDS, known as Web-based RDS (WebRDS). This study explored the use of combining both "traditional" RDS and WebRDS to examine the influences on adolescent alcohol use. OBJECTIVE This paper reports on the recruit...