Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: HTR2A: 1354C>T; His452Tyr; rs6314
Dynamic spatiotemporal determinants modulate GPCR:G protein coupling selectivity and promiscuity.
Nature Communications
Sandhu, Manbir M; Cho, Aaron A; Ma, Ning N; Mukhaleva, Elizaveta E; Namkung, Yoon Y; Lee, Sangbae S; Ghosh, Soumadwip S; Lee, John H JH; Gloriam, David E DE; Laporte, Stéphane A SA; Babu, M Madan MM; Vaidehi, Nagarajan N
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride.
Clinical And Translational Science
Campodónico, Diana María DM; Zubiaur, Pablo P; Soria-Chacartegui, Paula P; Casajús, Ana A; Villapalos-García, Gonzalo G; Navares-Gómez, Marcos M; Gómez-Fernández, Antía A; Parra-Garcés, Raúl R; Mejía-Abril, Gina G; Román, Manuel M; Martín-Vílchez, Samuel S; Ochoa, Dolores D; Abad-Santos, Francisco F
Case report: Non-response to fluoxetine in a homozygous 5-HTTLPR S-allele carrier of the serotonin transporter gene.
Frontiers In Psychiatry
Stäuble, Céline K CK; Meier, Rebecca R; Lampert, Markus L ML; Mikoteit, Thorsten T; Hatzinger, Martin M; Allemann, Samuel S SS; Hersberger, Kurt E KE; Meyer Zu Schwabedissen, Henriette E HE
TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients.
Bmc Gastroenterology
Snarska, Jadwiga J; Fiedorowicz, Ewa E; Rozmus, Dominika D; Wroński, Konrad K; Latacz, Maria M; Kordulewska, Natalia N; Płomiński, Janusz J; Grzybowski, Roman R; Savelkoul, Huub F J HFJ; Kostyra, Elżbieta E; Cieślińska, Anna A
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.
Pharmacogenomics And Personalized Medicine
Borro, Marina M; Gentile, Giovanna G; Preissner, Sally H SH; Pomes, Leda Marina LM; Gohlke, Björn-Oliver BO; Del Casale, Antonio A; Eckert, Andreas A; Marchetti, Paolo P; Preissner, Saskia S; Preissner, Robert R; Simmaco, Maurizio M
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: HTR2A: 1354C>T; His452Tyr; rs6314
Genetic Polymorphisms of 5-HT Receptors and Antipsychotic-Induced Metabolic Dysfunction in Patients with Schizophrenia.
Journal Of Personalized Medicine
Paderina, Diana Z DZ; Boiko, Anastasiia S AS; Pozhidaev, Ivan V IV; Bocharova, Anna V AV; Mednova, Irina A IA; Fedorenko, Olga Yu OY; Kornetova, Elena G EG; Loonen, Anton J M AJM; Semke, Arkadiy V AV; Bokhan, Nikolay A NA; Ivanova, Svetlana A SA
Atypical Antipsychotics and Metabolic Syndrome: From Molecular Mechanisms to Clinical Differences.
Pharmaceuticals (Basel, Switzerland)
Carli, Marco M; Kolachalam, Shivakumar S; Longoni, Biancamaria B; Pintaudi, Anna A; Baldini, Marco M; Aringhieri, Stefano S; Fasciani, Irene I; Annibale, Paolo P; Maggio, Roberto R; Scarselli, Marco M
Metabolic Effects of Aripiprazole and Olanzapine Multiple-Dose Treatment in a Randomised Crossover Clinical Trial in Healthy Volunteers: Association with Pharmacogenetics.
Advances In Therapy
Koller, Dora D; Almenara, Susana S; Mejía, Gina G; Saiz-Rodríguez, Miriam M; Zubiaur, Pablo P; Román, Manuel M; Ochoa, Dolores D; Navares-Gómez, Marcos M; Santos-Molina, Elena E; Pintos-Sánchez, Elena E; Abad-Santos, Francisco F
Editorial: Decreasing the Impact of Treatment Resistance in Schizophrenia: Identifying Novel Molecular Targets/Pathways to Increase Treatment Efficacy.
5-Hydroxytryptamine Receptors and Tardive Dyskinesia in Schizophrenia.
Frontiers In Molecular Neuroscience
Pozhidaev, Ivan V IV; Paderina, Diana Z DZ; Fedorenko, Olga Yu OY; Kornetova, Elena G EG; Semke, Arkadiy V AV; Loonen, Anton J M AJM; Bokhan, Nikolay A NA; Wilffert, Bob B; Ivanova, Svetlana A SA
The effects of aripiprazole and olanzapine on pupillary light reflex and its relationship with pharmacogenetics in a randomized multiple-dose trial.
British Journal Of Clinical Pharmacology
Koller, Dora D; Saiz-Rodríguez, Miriam M; Zubiaur, Pablo P; Ochoa, Dolores D; Almenara, Susana S; Román, Manuel M; Romero-Palacián, Daniel D; de Miguel-Cáceres, Alejandro A; Martín, Samuel S; Navares-Gómez, Marcos M; Mejía, Gina G; Wojnicz, Aneta A; Abad-Santos, Francisco F
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW