scholarly journals A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

2005 ◽  
Vol 14 (8) ◽  
pp. 1019-1027 ◽  
Author(s):  
Juliane Ramser ◽  
Fatima E. Abidi ◽  
Celine A. Burckle ◽  
Claus Lenski ◽  
Helga Toriello ◽  
...  
2009 ◽  
Vol 37 (4) ◽  
pp. 756-761 ◽  
Author(s):  
Tobias Warnecke ◽  
Claudia C. Weber ◽  
Laurence D. Hurst

There is considerable variation in the rate at which different proteins evolve. Why is this? Classically, it has been considered that the density of functionally important sites must predict rates of protein evolution. Likewise, amino acid choice is usually assumed to reflect optimal protein function. In the present article, we briefly review evidence suggesting that this protein function-centred view is too simplistic. In particular, we concentrate on how selection acting during the protein's production history can also affect protein evolutionary rates and amino acid choice. Exploring the role of selection at the DNA and RNA level, we specifically address how the need (i) to specify exonic splice enhancer motifs in pre-mRNA, and (ii) to ensure nucleosome positioning on DNA have an impact on amino acid choice and rates of evolution. For both, we review evidence that sequence affected by more than one coding demand is particularly constrained. Strikingly, in mammals, splicing-related constraints are quantitatively as important as expression parameters in predicting rates of protein evolution. These results indicate that there is substantially more to protein evolution than protein functional constraints.


2008 ◽  
Vol 16 (12) ◽  
pp. 1430-1436 ◽  
Author(s):  
Rob W J Collin ◽  
Anne-Martine R de Heer ◽  
Jaap Oostrik ◽  
Robert-Jan Pauw ◽  
Rutger F Plantinga ◽  
...  

2016 ◽  
Vol 14 (5) ◽  
pp. 4906-4910 ◽  
Author(s):  
Hiroki Otsuka ◽  
Hideo Sasai ◽  
Mina Nakama ◽  
Yuka Aoyama ◽  
Elsayed Abdelkreem ◽  
...  

PEDIATRICS ◽  
1960 ◽  
Vol 26 (4) ◽  
pp. 565-569
Author(s):  
William F. Windle

There is pressing need of well controlled clinical evaluation of the role of adverse factors in the prenatal, natal and early postnatal periods in the etiology of neurological disorders. This is particularly true of asphyxia neonatorum. Many articles have been written on relationships between apnea, anoxia or asphyxia and manifestations of mental retardation, cerebral palsy, epilepsy and othe neurological, psychological and behavioral defects. The majority of the writers express opinions, but give no evidence that data were collected. Controls are commonly lacking. Often no attempt to measure the variables appears to have been made. A review1 of more than 500 reports, commentaries and testimonials of clinical experiences reveals deficiency in basic information of physiology of the fetus and newborn that is nothing short of appalling.


1978 ◽  
Vol 23 (4) ◽  
pp. 209-218 ◽  
Author(s):  
Ezzat F. Guirguis ◽  
Henry B. Durost

The use of mechanical restraints for the management of disturbed or violent psychiatric patients continues to be a controversial issue. A survey of their use was carried out by means of a questionnaire sent to 370 psychiatric facilities in Canada to which there was a 62.2% response. General hospital psychiatric units, psychiatric hospitals and mental retardation centres accounted for 83.0% (191) of the returns and were the only facilities analyzed. The study showed that the vast majority still use mechanical restraints. The types of restraints in order of frequency of use included posey belts or shirts, isolation room, straps, sheets, strait jackets, wet or dry packs, hydrotherapy, and others. Violent behaviour is the main reason for which restraints are used. Medical orders, recording procedures and staff training in techniques of managing disturbed behaviour are reviewed. An important finding is the significant majority of facilities that have no stated policy permitting or forbidding the use of restraints. The findings are briefly related to Tuke's work in 1882 pointing to similarities in practice. Finally, the authors emphasize the need to deal with this contentious issue in an enlightened manner reflecting modern day demands.


1996 ◽  
Vol 83 (1) ◽  
pp. 187-192 ◽  
Author(s):  
E. M. Coles ◽  
T. T. Freitas ◽  
R. Tweed

An analysis of the psychological aspects of the legal concept of competency/fitness to stand trial draws attention to the central role of understanding. The rationale of certain basic requirements for the construct validity of a psychometric test of understanding in people with mental retardation is presented, and a test that meets those requirements is described.


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