Structural variation of the 3-acetamido-4,5,6-trihydroxyazepane iminosugar through epimerization and C- alkylation leads to low micromolar HexAB and NagZ inhibitors

2022 ◽  
Author(s):  
jaufret bouquet ◽  
Nicolas Auberger ◽  
Dustin King ◽  
alexandra bordes ◽  
nathalie fontelle ◽  
...  
Keyword(s):  
Structural Variation

We report the synthesis of seven-membered iminosugars derived from a 3S-acetamido-4R,5R,6S-trihydroxyazepane scaffold and their evaluation as inhibitors of functionally related exo-N-acetylhexosaminidases including human O-GlcNAcase (OGA), human lysosomal b-hexosaminidase (HexAB), and...

Structural variation of TertiaryGrewia woods (Tiliaceae) from East Bavarian Molasse, Germany

2000 ◽  
Vol 111 (7-8) ◽  
pp. 465-480
Author(s):  
A. Seilmeier
Keyword(s):  
Structural Variation

Structural variation in the songs of Atlantic walruses breeding in the Canadian High Arctic

2003 ◽  
Vol 29 (2) ◽  
pp. 297-318 ◽  
Author(s):  
Becky Sjare ◽  
Ian Stirling ◽  
Cheryl Spencer
Keyword(s):  
Structural Variation ◽  
High Arctic ◽  
Canadian High Arctic

CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS)

2008 ◽  
Vol 31 (4) ◽  
pp. 19
Author(s):  
I Pasic ◽  
A Shlien ◽  
A Novokmet ◽  
C Zhang ◽  
U Tabori ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Large Scale ◽  
Structural Variation ◽  
Age Of Onset ◽  
Cancer Susceptibility ◽  
Small Sample Size ◽  
Snp Array ◽  
Tumour Suppressor Gene ◽  
Small Sample ◽  
International Hapmap Project

Introduction: OS, a common Li-Fraumeni syndrome (LFS)-associated neoplasm, is a common bone malignancy of children and adolescents. Sporadic OS is also characterized by young age of onset and high genomic instability, suggesting a genetic contribution to disease. This study examined the contribution of novel DNA structural variation elements, CNVs, to OS susceptibility. Given our finding of excessive constitutional DNA CNV in LFS patients, which often coincide with cancer-related genes, we hypothesized that constitutional CNV may also provide clues about the aetiology of LFS-related sporadic neoplasms like OS. Methods: CNV in blood DNA of 26 patients with sporadic OS was compared to that of 263 normal control samples from the International HapMap project, as well as 62 local controls. Analysis was performed on DNA hybridized to Affymetrix genome-wide human SNP array 6.0 by Partek Genomic Suite. Results: There was no detectable difference in average number of CNVs, CNV length, and total structural variation (product of average CNV number and length) between individuals with OS and controls. While this data is preliminary (small sample size), it argues against the presence of constitutional genomic instability in individuals with sporadic OS. Conclusion: We found that the majority of tumours from patients with sporadic OS show CN loss at chr3q13.31, raising the possibility that chr3q13.31 may represent a “driver” region in OS aetiology. In at least one OS tumour, which displays CN loss at chr3q13.31, we demonstrate decreased expression of a known tumour suppressor gene located at chr3q13.31. We are investigating the role ofchr3q13.31 in development of OS.

scholarly journals Bile salts of vertebrates: structural variation and possible evolutionary significance

2009 ◽  
Vol 51 (2) ◽  
pp. 226-246 ◽  
Author(s):  
Alan F. Hofmann ◽  
Lee R. Hagey ◽  
Matthew D. Krasowski
Keyword(s):  
Bile Salts ◽  
Structural Variation ◽  
Evolutionary Significance
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