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Genomic medicine: Ushering in new era in healthcare

Genomic medicine: Ushering in new era in healthcare
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

United Kingdom , United States , Jo Mcentyre , Karen Arnott , Ewan Birney , National Centre For Biotechnology Information , Genomic Medicine Services , Genomic Medicine Service , Genomic Laboratory Hubs , Genomic Laboratory Hub , United Kingdom National Health Service , National Health Service , Genomic Medicine , Olmsted Syndrome , Laboratory Hubs , Laboratory Hub , Variant Effect Predictor , Medicine Service , National Centre , Biotechnology Information , Deputy Director General , Genomics England , Genomic Medicine Masters , Associate Director ,

NCSA Project Expands Toolbox for Understanding Cancer Evolution

NCSA Project Expands Toolbox for Understanding Cancer Evolution
hpcwire.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from hpcwire.com Daily Mail and Mail on Sunday newspapers.

United States , University Of Illinois , Mohammed El Kebir , Peter Groves , Matt Berry , Chuanyi Zhang , Zeynep Madak Erdogan , Charles Blatti , Lisa Gatzke , Nicholas Chia , Cancer Center At Illinois , Analytics Group , University Of Illinois Urbana Champaign , Mayo Clinic , Illinois Urbana Champaign , Cancer Center , Jessica Saw , Variant Effect Predictor , Visual Analytics , Chad Olson ,

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

The experiments here advance understanding of the function of the SAMD9L gene and protein in innate immune mechanisms in resisting virus infection and in the pathogenesis of inflammatory, hematological, and neurological disorders. The clinical syndrome defined in two children with de novo truncating SAMD9L mutations expands the phenotypes in this newly recognized autoinflammatory disorder. Analysis of cells expressing normal or mutant SAMD9L reveals the protein represses protein translation, with the truncating mutations greatly exaggerating this activity. The experiments find equally potent gain of function caused by the truncating mutations or a recurrent missense mutation associated with clinically milder ataxia and pancytopenia syndromes, demonstrating that diverse clinical manifestations can arise from mutations that appear cell-biologically equivalent.

All study data are included in the article and/or [ SI Appendix ][1].

[1]: https://www.pnas.org/lookup/suppl/doi:1 ....

New South Wales , Robert Brink , Qiagen Rneasy , Biosystems Quantstudio , Eastern Sydney Local Health Network , Garvan Institute Of Medical Research , National Institute Of Allergy , West Nile , South Eastern Sydney Local Health Network , Novocraft Technologies , Quality Score Recalibrator , Variant Effect Predictor , Essential Amino Acids , Life Technologies , Thermo Fisher Scientific , Garvan Institute , Medical Research , Bioscience Fixable Viability Dye , Applied Biosystems Quantstudio , National Institute , Infectious Diseases ,