Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05
Variant appearance in text: PYROXD2: 1382T>C; Met461Thr; rs2147896
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: PYROXD2: 1382T>C; Met461Thr
Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.
Human Genomics
Lee, In-Hee IH; Smith, Matthew Ryan MR; Yazdani, Azam A; Sandhu, Sumiti S; Walker, Douglas I DI; Mandl, Kenneth D KD; Jones, Dean P DP; Kong, Sek Won SW
Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.
The Journal Of Biological Chemistry
Moore, Amy A; Busch, Michael P MP; Dziewulska, Karolina K; Francis, Richard O RO; Hod, Eldad A EA; Zimring, James C JC; D'Alessandro, Angelo A; Page, Grier P GP
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
Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.
Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.
Metabolites
Hysi, Pirro G PG; Mangino, Massimo M; Christofidou, Paraskevi P; Falchi, Mario M; Karoly, Edward D ED; Nihr Bioresource Investigators, ; Mohney, Robert P RP; Valdes, Ana M AM; Spector, Tim D TD; Menni, Cristina C
Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.
Metabolites
Hysi, Pirro G PG; Mangino, Massimo M; Christofidou, Paraskevi P; Falchi, Mario M; Karoly, Edward D ED; Nihr Bioresource Investigators, ; Mohney, Robert P RP; Valdes, Ana M AM; Spector, Tim D TD; Menni, Cristina C
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21
Variant appearance in text: PYROXD2: M461T; rs2147896
Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.
Network And Systems Medicine
Gillenwater, Lucas A LA; Pratte, Katherine A KA; Hobbs, Brian D BD; Cho, Michael H MH; Zhuang, Yonghua Y; Halper-Stromberg, Eitan E; Cruickshank-Quinn, Charmion C; Reisdorph, Nichole N; Petrache, Irina I; Labaki, Wassim W WW; O'Neal, Wanda K WK; Ortega, Victor E VE; Jones, Dean P DP; Uppal, Karan K; Jacobson, Sean S; Michelotti, Gregory G; Wendt, Christine H CH; Kechris, Katerina J KJ; Bowler, Russell P RP
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: PYROXD2: 1382T>C; M461T; rs2147896
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: PYROXD2: 1382T>C; Met461Thr
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: PYROXD2: M461T; rs2147896
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: PYROXD2: M461T; rs2147896
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
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: PYROXD2: M461T; rs2147896
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
Nature Communications
Yousri, Noha A NA; Fakhro, Khalid A KA; Robay, Amal A; Rodriguez-Flores, Juan L JL; Mohney, Robert P RP; Zeriri, Hassina H; Odeh, Tala T; Kader, Sara Abdul SA; Aldous, Eman K EK; Thareja, Gaurav G; Kumar, Manish M; Al-Shakaki, Alya A; Chidiac, Omar M OM; Mohamoud, Yasmin A YA; Mezey, Jason G JG; Malek, Joel A JA; Crystal, Ronald G RG; Suhre, Karsten K
Publication Date: 2018-01-23
Variant appearance in text: PYROXD2: Met461Thr; rs2147896
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: PYROXD2: M461T; rs2147896
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: PYROXD2: M461T; rs2147896
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.
Plos Genetics
Nicholson, George G; Rantalainen, Mattias M; Li, Jia V JV; Maher, Anthony D AD; Malmodin, Daniel D; Ahmadi, Kourosh R KR; Faber, Johan H JH; Barrett, Amy A; Min, Josine L JL; Rayner, N William NW; Toft, Henrik H; Krestyaninova, Maria M; Viksna, Juris J; Neogi, Sudeshna Guha SG; Dumas, Marc-Emmanuel ME; Sarkans, Ugis U; , ; Donnelly, Peter P; Illig, Thomas T; Adamski, Jerzy J; Suhre, Karsten K; Allen, Maxine M; Zondervan, Krina T KT; Spector, Tim D TD; Nicholson, Jeremy K JK; Lindon, John C JC; Baunsgaard, Dorrit D; Holmes, Elaine E; McCarthy, Mark I MI; Holmes, Chris C CC