Analysis of ocular hypopigmentation in Rab38cht/cht mice.

Purpose: To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome.

Methods: Chocolate mice (cht, Rab38(cht/cht)) and control heterozygous (Rab38(cht/)(+)) and wild-type mice were examined clinically, histologically, ultrastructurally, and electrophysiologically. Mice homozygous for both the Rab38(cht) and the Tyrp1(b) alleles were similarly examined.

Influence of thigh cluster configuration on the estimation of hip axial rotation.

The non-invasive estimation of hip axial rotation is prone to error. Most of this is likely to originate from soft tissue artefact (STA) at the thigh. The purpose of this study was to evaluate the relative performance of four different thigh cluster configurations.

Defining the knee joint flexion-extension axis for purposes of quantitative gait analysis: an evaluation of methods.

Minimising measurement variability associated with hip axial rotation and avoiding knee joint angle cross-talk are two fundamental objectives of any method used to define the knee joint flexion-extension axis for purposes of quantitative gait analysis. The aim of this experiment was to compare three different methods of defining this axis: the knee alignment device (KAD) method, a method based on the transepicondylar axis (TEA) and an alternative numerical method (Dynamic). The former two methods are common approaches that have been applied clinically in many quantitative gait analysis laboratories; the latter is an optimisation procedure.

Multiple regions contribute to membrane targeting of Rab GTPases.

Small GTPases of the Rab family are key regulators of membrane trafficking. Each Rab shows a characteristic subcellular distribution, and may serve as an important determinant of organelle identity. The molecular mechanisms responsible for targeting Rabs to specific intracellular compartments, however, remain poorly understood.

The melanocortin-1 receptor is a key regulator of human cutaneous pigmentation.

The cloning and characterization of the human melanocortin-1 receptor (MC1R) and the demonstration that normal human melanocytes respond to the melanocortins, alpha-melanocyte stimulating hormone (alpha-MSH) and adrenocorticotrophic hormone (ACTH), with increased proliferation and eumelanogenesis had put an end to a long-standing controversy about the role of melanocortins in regulating human cutaneous pigmentation. We have shown that alpha-MSH and ACTH bind the human MC1R with equal affinity, and are equipotent in their mitogenic and melanogenic effects on human melanocytes. We also showed that the activation of the MC1R is important for the melanogenic response of human melanocytes to ultraviolet radiation (UVR).