Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

Autor: García-Aznar JM; Department of Immunology, Health in Code, A Coruña, Galicia, Spain., Maneiro Pampín E; Department of Immunology, Health in Code, A Coruña, Galicia, Spain., García Ramos M; Department of Immunology, Health in Code, A Coruña, Galicia, Spain., Acuña Pérez MJ; Department of Immunology, Health in Code, A Coruña, Galicia, Spain., Paz Gandiaga N; Genetics Division, Universitary Hospital Marqués de Valdecilla, Santander, Canatabria, Spain., Minguell Domingo L; Pediatrics Division, Universitary Hospital Arnau de Vilanova, Lleida, Catalonia, Spain., Calavia O; Pediatrics Division, Hospital Joan XXIII, Tarragona, Catalonia, Spain., Soler-Palacin P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain., Colobran R; Immunology Division, Vall d'Hebron University Hospital (HUVH), Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital (HUVH), Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Novoa Bolívar EM; Immunology Division, Universitary Hospital Virgen de la Arrixaca, Murcia, Spain., Ocejo Vinyals JG; Immunology Division, Universitary Hospital Marqués de Valdecilla, IDIVAL, Santander, Cantabria, Spain.

Publikováno v: Frontiers in immunology [Front Immunol] 2023 Oct 09; Vol. 14, pp. 1279171. Date of Electronic Publication: 2023 Oct 09 (Print Publication: 2023).

Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach.

Autor: Ramudo-Cela L; Health in Code S.L., Scientific Department, A Coruña, Spain. lramudocela@gmail.com.; Complexo Hospitalario Universitario A Coruña, A Coruña, Spain. lramudocela@gmail.com.; Universidade da Coruña, A Coruña, Spain. lramudocela@gmail.com., Santana-Martínez S; Health in Code S.L., Scientific Department, A Coruña, Spain., García-Ramos M; Health in Code S.L., Scientific Department, A Coruña, Spain., Bergamino M; Health in Code S.L., Scientific Department, A Coruña, Spain., García-Giustiniani D; Health in Code S.L., Scientific Department, A Coruña, Spain., Vélez-Vieitez P; Health in Code S.L., Laboratory Department, A Coruña, Spain., Hernández-Hernández JL; Department of Internal Medicine, Hospital Universitario Marqués de Valdecilla-IDIVAL, University of Cantabria, Santander, Spain., García-Ibarbia C; Department of Internal Medicine, Hospital Universitario Marqués de Valdecilla-IDIVAL, University of Cantabria, Santander, Spain., González-Bustos P; Servicio de Medicina Interna, Hospital Virgen de las Nieves, Granada, España., Ruíz-Martín P; Department of Cardiology, Hospital Regional Universitario de Málaga, Málaga, Spain., González-Lozano J; Department of Cardiology, Hospital Regional Universitario de Málaga, Málaga, Spain., Santomé-Collazo L; Health in Code S.L., Laboratory Department, A Coruña, Spain., Grana-Fernandez A; Health in Code S.L., Bioinformatics Department, A Coruña, Spain., Cabaleiro-Cerviño P; Health in Code S.L., Bioinformatics Department, A Coruña, Spain., Ortíz M; Health in Code S.L., Scientific Department, A Coruña, Spain., Monserrat-Iglesias L; Health in Code S.L., Scientific Department, A Coruña, Spain.

Publikováno v: The pharmacogenomics journal [Pharmacogenomics J] 2022 May; Vol. 22 (3), pp. 180-187. Date of Electronic Publication: 2022 Mar 31.

Modulation of the Enzymatic Activity of the Flagellar Lytic Transglycosylase SltF by Rod Components and the Scaffolding Protein FlgJ in Rhodobacter sphaeroides .

Autor: García-Ramos M; Instituto de Fisiología Celular, Universidad Nacional Autónoma de México, Mexico City, Mexico., de la Mora J; Instituto de Fisiología Celular, Universidad Nacional Autónoma de México, Mexico City, Mexico., Ballado T; Instituto de Fisiología Celular, Universidad Nacional Autónoma de México, Mexico City, Mexico., Camarena L; Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico., Dreyfus G; Instituto de Fisiología Celular, Universidad Nacional Autónoma de México, Mexico City, Mexico.

Publikováno v: Journal of bacteriology [J Bacteriol] 2021 Sep 23; Vol. 203 (20), pp. e0037221. Date of Electronic Publication: 2021 Jul 26.

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