PURPOSE The paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals. Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs. Known genetic alterations causing haplo-insufficiency of PAX6 include nonsense mutations, frame-shift mutations, splicing errors, or genomic ...

Sera from patients with cancer contain antibodies which react with a unique group of autologous cellular antigens called tumor-associated antigens (TAAs). This study aimed to determine whether a mini-array of multiple TAAs would enhance antibody detection and be a useful approach in breast cancer detection and diagnosis. The mini-array of multiple TAAs was composed of ten TAAs, including Imp1, ...

Signal peptidase, which removes signal peptides from preproteins, has a substrate specificity for small uncharged residues at -1 (P1) and small or larger aliphatic residues at the -3 (P3) position. Structures of the catalytic domain with a 5S-penem inhibitor and a lipopeptide inhibitor reveal candidate residues that make up the S1 and S3 pockets that bind the P1 and P3 specificity residues of t...

UNLABELLED Spinal muscular atrophy (SMA) is a neurodegenerative disease primarily affecting spinal motor neurons. It is caused by reduced levels of the survival of motor neuron (SMN) protein, which plays an essential role in the biogenesis of spliceosomal small nuclear ribonucleoproteins in all tissues. The etiology of the specific defects in the motor circuitry in SMA is still unclear, but SMN...

Background: Acinetobacter baumannii, is an opportunistic pathogen and is responsible for numerous nosocomial infections. In recent years, this microorganism has been resistant to a wide range of antibiotics. One of the most important mechanisms of resistance in this microorganism is production of metallo-beta-lactamases (MBLs). Objectives: The aim of this study was to detect VIM- and IMP-type ...

This paper is a critical examination of both the nature of learning and its value in artificial intell igence. After examining alternative definitions it is concluded that learning is in fact any process for the acquisition of synthetic a posteriori knowledge structures. The suggestion that learning will not prove useful in machines is examined and it is argued. that i ts main application in pr...

The minimization of hazardous waste generation as well as the proper treatment and disposal of generated waste has great importance for the protection of present and future human health and the environment. The purpose of this study was to identify the extent of waste minimization practices carried out by Tennessee waste generators since September 1985, This was accompl i shed methodologically ...

We present a formal theory of causal implication, which allows to reason about cause-effect relationship in a more satisfactory way than the classical calculus of proposition. In this paper only implicational subsystem is presented, but it easily extends to other propositional conjuncts and quantification. The system could serve as an underlying formalism for the development of rule-based exper...

Silver-Russell syndrome (SRS) is characterised by preand postnatal growth restriction in association with other clinically recognised dysmorphic features such as triangular facies, asymmetry, and fifth finger clinodactyly. Since the major diagnostic features involve reduced growth, it is tempting to postulate that altered expression of a protein within a growth factor cascade may be causative. ...