Use and uncertainties of mutual information for computed tomography/magnetic resonance (CT/MR) registration post permanent implant of the prostate

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134844/1/mp1920.pd

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.

Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to the dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats with recurring erosions and ulcers on ear pinnae, oral mucosa, and paw pads that were suggestive of EB. Histopathology confirmed the diagnosis of EB in both cats. Case 1 was severe and had to be euthanized at 5 months of age. Case 2 had a milder course and was alive at 11 years of age at the time of writing. Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 chain. Loss of function variants in COL17A1 lead to junctional epidermolysis bullosa (JEB) in human patients. The identified splice site variant in case 1, c.3019+1del, was predicted to lead to a complete deficiency in collagen type XVII. Case 2 had a splice region variant, c.769+5G>A. Assessment of the functional impact of this variant on the transcript level demonstrated partial aberrant splicing with residual expression of wildtype transcript. Thus, the molecular analyses provided a plausible explanation of the difference in clinical severity between the two cases and allowed the refinement of the diagnosis in the affected cats to JEB. This study highlights the complexity of EB in animals and contributes to a better understanding of the genotype-phenotype correlation in COL17A1-related JEB

Development of the TOXIN Knowledge Graph for assisting animal-free risk assessment of cosmetic ingredient

peer reviewe

Development of the TOXIN Knowledge Graph for Assisting Animal-free Risk Assessment of Cosmetic Ingredients

editorial reviewe

Development of an easy-to-use, semantic technology-based knowledge base containing toxicological information of cosmetic ingredients to assist animal-free risk assessment

peer reviewe

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa

Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to the dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats with recurring erosions and ulcers on ear pinnae, oral mucosa, and paw pads that were suggestive of EB. Histopathology confirmed the diagnosis of EB in both cats. Case 1 was severe and had to be euthanized at 5 months of age. Case 2 had a milder course and was alive at 11 years of age at the time of writing. Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 chain. Loss of function variants in COL17A1 lead to junctional epidermolysis bullosa (JEB) in human patients. The identified splice site variant in case 1, c.3019+1del, was predicted to lead to a complete deficiency in collagen type XVII. Case 2 had a splice region variant, c.769+5G>A. Assessment of the functional impact of this variant on the transcript level demonstrated partial aberrant splicing with residual expression of wildtype transcript. Thus, the molecular analyses provided a plausible explanation of the difference in clinical severity between the two cases and allowed the refinement of the diagnosis in the affected cats to JEB. This study highlights the complexity of EB in animals and contributes to a better understanding of the genotype-phenotype correlation in COL17A1-related JEB

Knowledge Management in the Context of Toxicity Testing

editorial reviewe

End-user engineering of ontology-based knowledge bases

peer reviewedKnowledge bases store information on certain topics. Applying a well-structured and machine-readable format for a knowledge base is a prerequisite for any AI-based processing or reasoning. Semantic technologies (e.g. RDF) offer such a format and have the advantages that they make it possible to define the semantics of the information and support advanced querying. However, the disadvantage is that using such technologies is challenging for people not trained in IT, such as subject matter experts. This means that they need to rely on semantic technology experts to create, maintain, and query their knowledge bases. However, these experts are, in turn, not trained in the subject matter, while domain knowledge is essential for the construction of high-quality knowledge bases. In this paper, we present an end-user engineering approach for ontology-based knowledge bases. The goal is to allow subject matter experts to develop, maintain, and exploit the knowledge base themselves. We also present the supporting tools developed so far. The tools for the construction and the manual filling of the knowledge base are using the jigsaw metaphor to hide technicalities and guide the users. We also developed tools to automatically import data from spreadsheets into the knowledge base and to perform some type of quality control on the data. The end-user approach and the tools are demonstrated and evaluated for building a knowledge base in the toxicology domain