Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.     

COURSE TIMETABLING AT A TUNISIAN UNIVERSITY： A CASE STUDY

This paper deals with the Course Timetabling Problem at an institution in a Tunisian University. We introduce a heuristic procedure to construct a feasible timetable for all lectures and tutorials taken by different groups of each sub-section of any section. We describe the timetabling problem using a list of all specific hard and soft constraints. We formulate the problem as a set of linear constraints using two sets of binary variables corresponding to lectures and tutorials, respectively. This heuristic is illustrated with real data for a sub-section of the Faculty of Economics and Management Sciences of Sfax in Tunisia, and the resulting timetables are compared with those generated manually. The results of another full section have confirmed the good quality of the proposed heuristic when compared with the hand made solution.     

Viability Theory and PSI Theory Interrelation Inspired by Bunge Systemic Classification: the Viable System Ontology Theory

Systemic Practice and Action Research - This paper proposes a new theory called the Viable System Ontology Theory, which is an interrelation among two well-known theories in social science. The...     

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely to be highly heterogeneous. They can be categorized into syndromic (MRXS) and nonspecific (MRX) forms. In MRX forms, affected patients have no distinctive clinical or biochemical features. At least five MRX genes have been identified by positional cloning, but each accounts for only 0.5%-1.0% of MRX cases. Here we show that the gene TM4SF2 at Xp11.4 is inactivated by the X breakpoint of an X;2 balanced translocation in a patient with MR. Further investigation led to identification of TM4SF2 mutations in 2 of 33 other MRX families. RNA in situ hybridization showed that TM4SF2 is highly expressed in the central nervous system, including the cerebral cortex and hippocampus. TM4SF2 encodes a member of the tetraspanin family of proteins, which are known to contribute in molecular complexes including beta-1 integrins. We speculate that through this interaction, TM4SF2 might have a role in the control of neurite outgrowth.