Therapeutic and Toxic Effects of Valproic Acid Metabolites.
Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Mono- and biallelic variant effects on disease at biobank scale.
Nature
Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ
Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.
Journal Of Experimental & Clinical Cancer Research : Cr
Junk, Stefanie V SV; Schaeffeler, Elke E; Zimmermann, Martin M; Möricke, Anja A; Beier, Rita R; Schütte, Peter P; Fedders, Birthe B; Alten, Julia J; Hinze, Laura L; Klein, Norman N; Kulozik, Andreas A; Muckenthaler, Martina U MU; Koehler, Rolf R; Borkhardt, Arndt A; Vijayakrishnan, Jayaram J; Ellinghaus, David D; Forster, Michael M; Franke, Andre A; Wintering, Astrid A; Kratz, Christian P CP; Schrappe, Martin M; Schwab, Matthias M; Houlston, Richard S RS; Cario, Gunnar G; Stanulla, Martin M
Publication Date: 2023-01-13
Variant appearance in text: UGT1A6: R184S; rs1105879
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
Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study.
Nutrients
Nounu, Aayah A; Richmond, Rebecca C RC; Stewart, Isobel D ID; Surendran, Praveen P; Wareham, Nicholas J NJ; Butterworth, Adam A; Weinstein, Stephanie J SJ; Albanes, Demetrius D; Baron, John A JA; Hopper, John L JL; Figueiredo, Jane C JC; Newcomb, Polly A PA; Lindor, Noralane M NM; Casey, Graham G; Platz, Elizabeth A EA; Marchand, Loïc Le LL; Ulrich, Cornelia M CM; Li, Christopher I CI; van Dujinhoven, Fränzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Víctor V; Vodicka, Pavel P; Vodickova, Ludmila L; Amitay, Efrat E; Alwers, Elizabeth E; Chang-Claude, Jenny J; Sakoda, Lori C LC; Slattery, Martha L ML; Schoen, Robert E RE; Gunter, Marc J MJ; Castellví-Bel, Sergi S; Kim, Hyeong-Rok HR; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Buchanan, Daniel D DD; Giles, Graham G GG; Gruber, Stephen B SB; Rennert, Gad G; Stadler, Zsofia K ZK; Harrison, Tabitha A TA; Lin, Yi Y; Keku, Temitope O TO; Woods, Michael O MO; Schafmayer, Clemens C; Van Guelpen, Bethany B; Gallinger, Steven S; Hampel, Heather H; Berndt, Sonja I SI; Pharoah, Paul D P PDP; Lindblom, Annika A; Wolk, Alicja A; Wu, Anna H AH; White, Emily E; Peters, Ulrike U; Drew, David A DA; Scherer, Dominique D; Bermejo, Justo Lorenzo JL; Brenner, Hermann H; Hoffmeister, Michael M; Williams, Ann C AC; Relton, Caroline L CL
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: UGT1A6: 552A>C; R184S; rs1105879
Promising genes and variants to reduce chemotherapy adverse effects in acute lymphoblastic leukemia.
Translational Oncology
Bárcenas-López, Diego Alberto DA; Mendiola-Soto, Diana Karen DK; Núñez-Enríquez, Juan Carlos JC; Mejía-Aranguré, Juan Manuel JM; Hidalgo-Miranda, Alfredo A; Jiménez-Morales, Silvia S
Homology Modeling of Human Uridine-5'-diphosphate-glucuronosyltransferase 1A6 Reveals Insights into Factors Influencing Substrate and Cosubstrate Binding.
Acs Omega
Smith, Alexander D AD; Page, Brent D G BDG; Collier, Abby C AC; Coughtrie, Michael W H MWH
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: UGT1A6: R184S; rs1105879
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03
Variant appearance in text: UGT1A6: R184S; rs1105879
Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.
International Journal Of Molecular Sciences
Salinas-Torres, Víctor M VM; Gallardo-Blanco, Hugo L HL; Salinas-Torres, Rafael A RA; Cerda-Flores, Ricardo M RM; Lugo-Trampe, José J JJ; Villarreal-Martínez, Daniel Z DZ; Martínez de Villarreal, Laura E LE
Recent Developments in Metal-Based Drugs and Chelating Agents for Neurodegenerative Diseases Treatments.
International Journal Of Molecular Sciences
Sales, Thais A TA; Prandi, Ingrid G IG; Castro, Alexandre A de AA; Leal, Daniel H S DHS; Cunha, Elaine F F da EFFD; Kuca, Kamil K; Ramalho, Teodorico C TC
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
Publication Date: 2019-03-20
Variant appearance in text: UGT1A6: R184S; rs1105879
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.
Plos Computational Biology
Hsu, Yu-Han H YH; Churchhouse, Claire C; Pers, Tune H TH; Mercader, Josep M JM; Metspalu, Andres A; Fischer, Krista K; Fortney, Kristen K; Morgen, Eric K EK; Gonzalez, Clicerio C; Gonzalez, Maria E ME; Esko, Tonu T; Hirschhorn, Joel N JN
Publication Date: 2019-01
Variant appearance in text: UGT1A6: R184S; rs1105879
Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.
Nutrients
Coltell, Oscar O; Asensio, Eva M EM; Sorlí, José V JV; Barragán, Rocio R; Fernández-Carrión, Rebeca R; Portolés, Olga O; Ortega-Azorín, Carolina C; Martínez-LaCruz, Raul R; González, José I JI; Zanón-Moreno, Vicente V; Gimenez-Alba, Ignacio I; Fitó, Montserrat M; Ros, Emilio E; Ordovas, Jose M JM; Corella, Dolores D
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: UGT1A6: R184S; rs1105879
GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.
Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations.
Plos One
Sheth, Harsh H; Northwood, Emma E; Ulrich, Cornelia M CM; Scherer, Dominique D; Elliott, Faye F; Barrett, Jennifer H JH; Forman, David D; Wolf, C Roland CR; Smith, Gillian G; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Haile, Robert R; Casey, Graham G; Jenkins, Mark M; Win, Aung Ko AK; Hopper, John L JL; Marchand, Loic Le LL; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Potter, John D JD; Burn, John J; Bishop, D Timothy DT
Publication Date: 2018
Variant appearance in text: UGT1A6: R184S; rs1105879