Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.
International Journal Of Molecular Sciences
Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M
Publication Date: 2022-12-17
Variant appearance in text: ABCG5: 80G>C; G27A; rs56204478
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.
European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Stefansson, Kari K
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.
European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Alexandersson, Kristjan F KF; Tragante, Vinicius V; Thorsteinsdottir, Margret M; Eiriksson, Finnur F FF; Gretarsdottir, Solveig S; Björnsson, Eythór E; Magnusson, Olafur O; Sveinbjornsson, Gardar G; Jonsdottir, Ingileif I; Steinthorsdottir, Valgerdur V; Ferkingstad, Egil E; Jensson, Brynjar Ö BÖ; Stefansson, Hreinn H; Olafsson, Isleifur I; Christensen, Alex H AH; Torp-Pedersen, Christian C; Køber, Lars L; Pedersen, Ole B OB; Erikstrup, Christian C; Sørensen, Erik E; Brunak, Søren S; Banasik, Karina K; Hansen, Thomas F TF; Nyegaard, Mette M; Eyjolfssson, Gudmundur I GI; Sigurdardottir, Olof O; Thorarinsson, Bjorn L BL; Matthiasson, Stefan E SE; Steingrimsdottir, Thora T; Bjornsson, Einar S ES; Danielsen, Ragnar R; Asselbergs, Folkert W FW; Arnar, David O DO; Ullum, Henrik H; Bundgaard, Henning H; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-07-21
Variant appearance in text: ABCG5: Gly27Ala; rs56204478
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: ABCG5: 80G>C; Gly27Ala
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: ABCG5: G27A; rs56204478
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04
Variant appearance in text: ABCG5: G27A; rs56204478