Genomes and Genes
Experts and Doctors on hematologic diseases in Toronto, Ontario, Canada
Locale: Toronto, Ontario, Canada
Topic: hematologic diseases
- Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
- Silverman E, Jaeggi E. Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 2010;72:223-5 pubmed publisher..Overall, non-cardiac involvement of NLE is more common than cardiac. The study of these manifestations may lead to new insight into how autoantibodies lead to disease. ..
- Butcher D, Cytrynbaum C, Turinsky A, Siu M, Inbar Feigenberg M, Mendoza Londono R, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017;100:773-788 pubmed publisher..Our findings demonstrate how characterization of the epigenome can contribute to our understanding of disease pathophysiology for epigenetic disorders, paving the way for explorations of novel therapeutics. ..