Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Koleske, Megan L ML; McInnes, Gregory G; Brown, Julia E H JEH; Thomas, Neil N; Hutchinson, Keino K; Chin, Marcus Y MY; Koehl, Antoine A; Arkin, Michelle R MR; Schlessinger, Avner A; Gallagher, Renata C RC; Song, Yun S YS; Altman, Russ B RB; Giacomini, Kathleen M KM
Publication Date: 2022-11-16
Variant appearance in text: SLC22A5: 1345T>G; Tyr449Asp; rs11568514
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Publication Date: 2022-03
Variant appearance in text: SLC22A5: 1345T>G; Tyr449Asp
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.
Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Using l-Carnitine as a Pharmacologic Probe of the Interpatient and Metabolic Variability of Sepsis.
Pharmacotherapy
Jennaro, Theodore S TS; Puskarich, Michael A MA; McCann, Marc R MR; Gillies, Christopher E CE; Pai, Manjunath P MP; Karnovsky, Alla A; Evans, Charles R CR; Jones, Alan E AE; Stringer, Kathleen A KA
Characterization of ADME gene variation in 21 populations by exome sequencing.
Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR