Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: LDLR: 100T>G; Cys34Gly
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01
Variant appearance in text: LDLR: 100T>G; Cys34Gly; rs879254405
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.
Life (Basel, Switzerland)
Mickiewicz, Agnieszka A; Futema, Marta M; Ćwiklinska, Agnieszka A; Kuchta, Agnieszka A; Jankowski, Maciej M; Kaszubowski, Mariusz M; Chmara, Magdalena M; Wasąg, Bartosz B; Fijałkowski, Marcin M; Jaguszewski, Miłosz M; Humphries, Steve E SE; Gruchała, Marcin M
Publication Date: 2020-05-20
Variant appearance in text: LDLR: 100T>G; Cys34Gly
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: LDLR: 100T>G; Cys34Gly
Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.
Plos One
Gałąska, Rafal R; Kulawiak-Gałąska, Dorota D; Chmara, Magdalena M; Chlebus, Krzysztof K; Studniarek, Michał M; Fijałkowski, Marcin M; Wasąg, Bartosz B; Rynkiewicz, Andrzej A; Gruchała, Marcin M
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Human Mutation
Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP
Publication Date: 2010-11
Variant appearance in text: LDLR: 100T>G; Cys34Gly