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"Ferguson, Will"
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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia
Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene
SLC20A2
in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete spectrum of possible mutations. We identified
SLC20A2
pathogenic mutations in two of the 27 cases of IBGC (7 %). Sequencing analysis identified a p.S113* nonsense mutation in
SLC20A2
in one case. TaqMan copy number analysis of
SLC20A2
further revealed a genomic deletion in a second case, which was part of a large previously reported Canadian IBGC family with dystonia. Subsequent whole-genome sequencing in this family revealed a 563,256-bp genomic deletion with precise breakpoints on chromosome 8 affecting multiple genes including
SLC20A2
and the known dystonia-related gene
THAP1
. The deletion co-segregated with disease in all family members. The deletion of
THAP1
in addition to
SLC20A2
in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family. The identification of an
SLC20A2
genomic deletion in a familial form of IBGC demonstrates that reduced SLC20A2 in the absence of mutant protein is sufficient to cause neurodegeneration and that previously reported
SLC20A2
mutation frequencies may be underestimated.
Journal Article
The hope that remains : Canadian survivors of the Rwandan Genocide
\"Every immigrant that comes to Canada has a story. This book captures ten of those stories and the remarkable resiliency and fortitude of the human spirit. In 1994 one of the worst genocides in human history took place in Rwanda--over one million people were killed in 100 days.\"--Amazon.com.
Book
Extraordinary General Meeting Triodos Bank
Speakers from Triodos Bank talked about the latest developments in sustainable finance, from cutting edge corporate finance initiatives to plans for greater collaboration between members of the Global Alliance for Banking on Values. This may seem like an unusual agenda for a bank's annual meeting, but Triodos is a very different kind of bank. It exists to use money sustainably, with a mission to help create a society that promotes people's quality of live and that has human dignity at its core. The recent banking scandals suggest that this is a far cry from the motivations driving the activities and behaviour of many banks. Each of the speakers at the 'changemakers' event were invited because they have a link to Triodos Bank's work, either as a loan or corporate finance customers, partner or otherwise affiliated organisation.
Journal Article
Non-Invasive Prostate Cancer Diagnosing, Monitoring
[...]more than 2.9 million men in the United States who have been diagnosed with prostate cancer at some point are still alive today, according to the American Cancer Society.
Trade Publication Article
Organic Semiconductors Benefit from Inexpensive Solar Cells
Professors Ursula Mazur and K.W. Hipps, postdoctoral researcher Bhaskar Chilukuri and graduate students Morteza Adinehnia and Bryan Borders grew chain-like arrangements of organic nanostructures in the laboratory and then used mathematical models to determine which arrangements were the best conductors of light and electricity.
Trade Publication Article
