Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Mutations in the epithelial morphogen ectodysplasin-A (EDA), a member of the tumor necrosis factor (TNF) family, are responsible for the human disorder X-linked hypohidrotic ectodermal dysplasia (XLHED) characterized by impaired development of hair, eccrine sweat glands, and teeth. EDA-A1 and EDA-A2 are two splice variants of EDA, which bind distinct EDA-A1 and X-linked EDA-A2 receptors. We identified a series of novel EDA mutations in families with XLHED, allowing the identification of the following three functionally important regions in EDA: a C-terminal TNF homology domain, a collagen domain, and a furin protease recognition sequence. Mutations in the TNF homology domain impair binding of both splice variants to their receptors. Mutations in the collagen domain can inhibit multimerization of the TNF homology region, whereas those in the consensus furin recognition sequence prevent proteolytic cleavage of EDA. Finally, a mutation affecting an intron splice donor site is predicted to eliminate specifically the EDA-A1 but not the EDA-A2 splice variant. Thus a proteolytically processed, oligomeric form of EDA-A1 is required in vivo for proper morphogenesis.

State Library Update, January 2008, Vol.6, no. 1. Library of Iowa, State.

Quarterly update for State Library patrons.

State Library Update, March 2008, Vol.6, no. 2. Library of Iowa, State.

Quarterly update for State Library patrons.

Organização e Publicação dos Termos do Website da ANACOM sob uma Perspetiva Linked Open Data

O propósito da Web Semântica é conseguir uma Web de dados totalmente ligada, isto é, numa perspetiva Linked Open Data. A Web Semântica deve garantir (estabelecendo padrões tecnológicos, vocabulários, linguagens lógicas, etc.) que os conteúdos publicados na Websejam inteligíveis quer por agentes humanos, quer por agentes máquina. Esta dissertação tem como objetivo responder à um problema delimitado, propondo uma solução no quadro da Web Semântica e suas tecnologias. Partindo-se de uma lista de termos em linguagem natural utilizados no Website da ANACOM (Autoridade Nacional de Comunicações), propomos uma organização de acordo com metodologias de construção de ontologias e vocabulários. Inspirámo-nos em duas metodologias, o Ontology Development 101 e o Process and Methodology for Core Vocabularies. O vocabulário controlado resultante, tem como base tecnológica o modelo de organização de conhecimento, recomendado pelo W3C (World Wide Web Consortium), o SKOS (Simple Knowledge Organization System). Trata-sede uma tecnologia standard da W3C desde 2009, utilizada na criação de tesauros,esquemas de classificação, taxonomias, glossários e outros tipos de vocabulários controlados. Como resultado da nossa intervenção, conseguimos organizar e codificar em SKOS, cerca de cinco centenas de termos identificados no Website da ANACOM. Para além da proposta do vocabulário controlado, passámos em revista às tecnologias e teorias que sustentam a temática da Web Semântica.

Special investigation of the City of Center Point Library for the period January 1, 2006 through December 6, 2007

Special investigation of the City of Center Point Library for the period January 1, 2006 through December 6, 2007

Dynamic graphics of parametrically linked multivariate methods used in compositional data analysis

Many multivariate methods that are apparently distinct can be linked by introducing oneor more parameters in their definition. Methods that can be linked in this way arecorrespondence analysis, unweighted or weighted logratio analysis (the latter alsoknown as "spectral mapping"), nonsymmetric correspondence analysis, principalcomponent analysis (with and without logarithmic transformation of the data) andmultidimensional scaling. In this presentation I will show how several of thesemethods, which are frequently used in compositional data analysis, may be linkedthrough parametrizations such as power transformations, linear transformations andconvex linear combinations. Since the methods of interest here all lead to visual mapsof data, a "movie" can be made where where the linking parameter is allowed to vary insmall steps: the results are recalculated "frame by frame" and one can see the smoothchange from one method to another. Several of these "movies" will be shown, giving adeeper insight into the similarities and differences between these methods.

State Library Update, July 2008, Vol.6, no. 3. Library of Iowa, State.

Quarterly update for State Library patrons.

State Library of Iowa Annual Report FY2008, July 1, 2007 to June 30, 2008.

Annual report for State Library of Iowa

Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein.

Mutations in kerato-epithelin are responsible for a group of hereditary cornea-specific deposition diseases, 5q31-linked corneal dystrophies. These conditions are characterized by progressive accumulation of protein deposits of different ultrastructure. Herein, we studied the corneas with mutations at kerato-epithelin residue Arg-124 resulting in amyloid (R124C), non-amyloid (R124L), and a mixed pattern of deposition (R124H). We found that aggregated kerato-epithelin comprised all types of pathological deposits. Each mutation was associated with characteristic changes of protein turnover in corneal tissue. Amyloidogenesis in R124C corneas was accompanied by the accumulation of N-terminal kerato-epithelin fragments, whereby species of 44 kDa were the major constituents of amyloid fibrils. R124H corneas with prevailing non-amyloid inclusions showed accumulation of a new 66-kDa species altogether with the full-size 68-kDa form. Finally, in R124L cornea with non amyloid deposits, we found only the accumulation of the 68-kDa form. Two-dimensional gels revealed mutation-specific changes in the processing of the full-size protein in all affected corneas. It appears that substitutions at the same residue (Arg-124) result in cornea-specific deposition of kerato-epithelin via distinct aggregation pathways each involving altered turnover of the protein in corneal tissue.

State Library Update, July 2004

Quarterly State Library Update for patrons.

State Library Update, October 2008, Vol.6, no. 4. Library of Iowa, State.

Quarterly update for State Library patrons.

State Library Update, January 2009, Vol.7, no. 1. Library of Iowa, State.

Quarterly update for State Library patrons.

Iowa Library Trustee's Handbook, 2009

Gives trustees a basic understanding of their responsibilities and power.

DIGITAL LIBRARY FOR DIGITAL DIVIDE AND ENVIRONMENT OF SCARCE ACCESS TO PRINTED MATERIALS: THE CASE OF UNIVERSITY JEAN PIAGET OF CAPE VERDE

With the failure of the traditional mechanisms of distributing bibliographic materials into developing countries, digital libraries show up as a strong alternative in accomplishing such job, despite the challenges of the digital divide. This paper discusses the challenges of building a digital library (DL) in a developing country. The case of Cape Verde as a digital divide country is analyzed, in terms of current digital library usage and its potentiality for fighting the difficulties in accessing bibliographic resources in the country. The paper also introduces an undergoing project of building a digital library at the University Jean Piaget of Cape Verde.

Open Door Newsletter of the Library, Winter 2007

The Open Door newsletter is produced by the Iowa Commission for the Blind. It is published twice a year with information about the library programs and what is going on.