Webliography of African-American Champaign-Urbana

This Lab Note reflects one part of a year-long project called eBlackChampaign-Urbana. Our interest here is to provide better access to the dispersed documentation of local African-American history and culture in ChampaignUrbana, using digital technology to aggregate and enliven historical and contemporary information. Although this webliography focuses primarily on substantial, in-depth texts documenting local African-American life, we are also aggregating into the eBlackCU.net website URLs for local African-American websites, facebook pages, photographs, newspaper clippings, flyers, posters and other ephemeral documentation of Champaign-Urbana's Black heritage.published or submitted for publicationnot peer reviewe

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the ‘rescue’ role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic

Webliography of African-American Champaign-Urbana

This Lab Note reflects one part of a year-long project called eBlackChampaign-Urbana. Our interest here is to provide better access to the dispersed documentation of local African-American history and culture in Champaign-Urbana, using digital technology to aggregate and enliven historical and contemporary information. Although this webliography focuses primarily on substantial, in-depth texts documenting local African-American life, we are also aggregating into the eBlackCU.net website URLs for local African-American websites, facebook pages, photographs, newspaper clippings, flyers, posters and other ephemeral documentation of Champaign-Urbana's Black heritage. All are welcome to help us fill in gaps in this webliography and in our website by visiting http://eBlackCU.net/portal/contribution and adding files, citations, photographs, movies and memories of African-American life in Champaign-UrbanaOpe

Molecular Genetic Approaches to Disease of Neural Development

This study utilized novel genetic techniques in order to find causative gene mutations that underlie diseases of neural development. Our laboratory has collected 175 cases of malformations of cortical development (MCD) from the United States and Europe. Four of these cases are the focus of this manuscript: two familial cases of infantile neuroaxonal dystrophy (INAD), a familial case of hereditary spastic paraparesis (HSP), and a sporadic case of Greig cephalopolysyndactyly (GCPS) and cerebral cavernous malformations (CCMs). The techniques utilized to study the affected patients include microarray-based single nucleotide polymorphism (SNP) genotyping and copy number variation (CNV) analysis, both of which are powerful tools in the hunt for disease-causing gene mutations. In the familial cases of INAD, we report two novel mutations in the PLA2G6 gene, previously shown to cause INAD when mutated. In the familial case of HSP, we demonstrate linkage to the SPG11 locus on chromosome 15q. Finally, in the sporadic case of GCPS and CCM, we published the first report on this novel syndrome along with a genetic analysis that demonstrates a microdeletion on chromosome 7p, resulting in heterozygous loss of both the GLI3 and CCM2 genes. The three studies presented in this manuscript demonstrate the utility of SNP genotyping and CNV analysis in revealing the genetic mutations that underlie diseases of neural development

Molecular Genetic Approaches to Disease of Neural Development

This study utilized novel genetic techniques in order to find causative gene mutations that underlie diseases of neural development. Our laboratory has collected 175 cases of malformations of cortical development (MCD) from the United States and Europe. Four of these cases are the focus of this manuscript: two familial cases of infantile neuroaxonal dystrophy (INAD), a familial case of hereditary spastic paraparesis (HSP), and a sporadic case of Greig cephalopolysyndactyly (GCPS) and cerebral cavernous malformations (CCMs). The techniques utilized to study the affected patients include microarray-based single nucleotide polymorphism (SNP) genotyping and copy number variation (CNV) analysis, both of which are powerful tools in the hunt for disease-causing gene mutations. In the familial cases of INAD, we report two novel mutations in the PLA2G6 gene, previously shown to cause INAD when mutated. In the familial case of HSP, we demonstrate linkage to the SPG11 locus on chromosome 15q. Finally, in the sporadic case of GCPS and CCM, we published the first report on this novel syndrome along with a genetic analysis that demonstrates a microdeletion on chromosome 7p, resulting in heterozygous loss of both the GLI3 and CCM2 genes. The three studies presented in this manuscript demonstrate the utility of SNP genotyping and CNV analysis in revealing the genetic mutations that underlie diseases of neural development

Distance learning – Social software’s killer ap?

This paper discusses the challenges of developing modes of distance education that afford maximum freedom for learners—including the ability to enroll continuously and to pace one’s own learning—and yet still create opportunities to work cooperatively in learning communities with other students. To resolve these often conflicting priorities, a new genre of networked-based learning tools known as educational social software is defined, described and its attributes discussed. The paper concludes with a description of the design-based research work begun at Athabasca University using an instance of the ELGG open source, social software tool set