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Stephan Rust
Researcher at Boston Children's Hospital
Publications - 78
Citations - 7297
Stephan Rust is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Glycosylation & Congenital disorder of glycosylation. The author has an hindex of 36, co-authored 78 publications receiving 6626 citations. Previous affiliations of Stephan Rust include University of Münster & Leibniz Institute for Neurobiology.
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Journal ArticleDOI
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Stephan Rust,Rosier M,Harald Funke,Real J,Amoura Z,Piette Jc,Deleuze Jf,Brewer Hb,Nicolas Duverger,Patrice Denefle,Gerd Assmann +10 more
TL;DR: Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy and frequently premature coronary artery disease (CAD).
Journal ArticleDOI
Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
Robert Clarke,John F. Peden,J C Hopewell,Theodosios Kyriakou,Anuj Goel,Simon Heath,Sarah Parish,Simona Barlera,MariaGrazia Franzosi,Stephan Rust,Derrick A Bennett,Angela Silveira,Anders Mälarstig,Fiona R. Green,M Lathrop,Bruna Gigante,Karin Leander,U de Faire,Udo Seedorf,Anders Hamsten,Rory Collins,Hugh Watkins,Martin Farrall +22 more
TL;DR: Two LPA variants were strongly associated with both an increased level of Lp(a) lipoprotein and an increased risk of coronary disease, and the association between the LPA genotype score and the risk of heart disease was abolished.
Journal ArticleDOI
Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p
Helen M. Broadbent,John F. Peden,Stefan Lorkowski,Anuj Goel,Halit Ongen,Fiona R. Green,Robert Clarke,Rory Collins,Maria Grazia Franzosi,Gianni Tognoni,Udo Seedorf,Stephan Rust,Per Eriksson,Anders Hamsten,Martin Farrall,Hugh Watkins +15 more
TL;DR: A simultaneous test of CAD and diabetes susceptibility with CAD and T2D-associated SNPs indicated that these associations were independent of each other.
Journal ArticleDOI
Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred
Alan T. Remaley,Stephan Rust,Marie Rosier,Cathy Knapper,Laurent Naudin,Cyril Broccardo,Katherine Peterson,Christine A. Koch,Isabelle Arnould,Catherine Prades,Nicholas Duverger,Harald Funke,Gerd Assman,Maria Dinger,Michael Dean,Giovanna Chimini,Silvia Santamarina-Fojo,Donald S. Fredrickson,Patrice Denefle,H. Bryan Brewer +19 more
TL;DR: The genomic organization of the human ABC1 gene is reported and a frameshift mutation in the ABC2 gene of the index case of Tangier disease is identified, which will be useful in the future characterization of the structure and function of theABC1 gene and the analysis of additional ABC1 mutations in patients withTangier disease.
Journal ArticleDOI
Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection.
TL;DR: A PCR-based technique, whereby both normal and mutant alleles can be amplified in the same reaction tube, using different length allele-specific primers, which provides a within-assay quality control for the exclusion of false negative results.