Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and hypopigmentation. Phenotypes vary significantly within WS2 pedigrees, and there is generally no correlation between the predicted biochemical properties of mutant MITF proteins and disease severity. We have identified a nonsense mu...

in this study, the problem of determining an optimal trajectory of a nonlinear injection into orbit problem with minimum time was investigated. the method was based on orthogonal polynomial approximation. this method consists of reducing the optimal control problem to a system of algebraic equations by expanding the state and control vector as chebyshev or legendre polynomials with undetermined...

purpose: to report the clinical, radiological, pathological and therapeutic features of a case of recurrent cavernous hemangioma. case report: a 32 year old lady with progressive decrease of vision in her right eye associated with blepharoptosis was diagnosed to have orbital cavernous hemangioma which was excised. 10 years later she presented with recurrent proptosis and progressive eye deviati...

we propose to use a mathematical method based on stochastic comparisons of markov chains in order to derive performance indice bounds‎. ‎the main goal of this paper is to investigate various monotonicity properties of a single server retrial queue with first-come-first-served (fcfs) orbit and general retrial times using the stochastic ordering techniques‎.

Improvements on current one-component extraction procedures of spin-orbit pseudopotentials are investigated for high accuracy computation of spin-orbit coupling energies. By means of the perturbation-theory formalism we first show that spin-orbit pseudopotentials, extracted at the one-component self-consistent-field level from a reference all-electron Dirac-Coulomb or Dirac-Coulomb-Breit calcul...

PURPOSE To compare two sclera decontamination methods: treatment with glycerin versus treatment with gamma irradiation, alkali and glycerin, aiming to detect the clinical and histological alterations in rabbit anophthalmic sockets reconstructed with sclera-involved polymethylmethacrylate spheres. METHODS Thirty-nine New Zealand-breed rabbits were divided into two groups: group I, whose animal...

PURPOSE The membrane-type frizzled-related protein (MFRP) gene is selectively expressed in the retinal pigment epithelium and ciliary body, and mutations of this gene cause nanophthalmos. The MFRP gene may not be essential for retinal function but has been hypothesized to play a role in ocular axial length regulation. The involvement of the MFRP gene in moderate to high hyperopic, isolated micr...

Orbit, a Drosophila ortholog of microtubule plus-end enriched protein CLASP, plays an important role in many developmental processes involved in microtubule dynamics. Previous studies have shown that Orbit is required for asymmetric stem cell division and cystocyte divisions in germline cysts and for the development of microtubule networks that interconnect oocyte and nurse cells during oogenes...

Open source software tools have been gaining acceptance in the astrodynamics community for some applications, though heritage tools still dominate precision orbit determination and propagation. This paper examines recent tide modeling improvements in the open source Orbit Extrapolation Toolkit (Orekit) and compares it with the US Naval Research Laboratory’s (NRL) heritage Orbit Covariance Estim...