Institute of Biomedical & Clinical Science
Recent Submissions
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects
(Springer, 18 March 2019)The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as ... -
HLA Class II Antigen Processing and Presentation Pathway Components Demonstrated by Transcriptome and Protein Analyses of islet β-Cells from Donors with Type 1 Diabetes
(American Diabetes Association, 4 March 2019)Type 1 diabetes studies consistently generate data showing islet β-cell dysfunction and T-cell mediated anti-β-cell specific autoimmunity. To explore the pathogenesis, we interrogated the β-cell transcriptomes from donors ... -
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
(Elsevier (Cell Press), 1 January 2019)We report a recurrent CNOT1 de novo missense mutation, NM_016284.4:c.1603C>T, p.(Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype ... -
Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes
(Springer, 19 March 2019)PURPOSE OF REVIEW: To highlight pathways important for the development of autoimmune diabetes by investigating shared mechanisms of disease in polygenic and monogenic diabetes. RECENT FINDINGS: Genome-wide association ...