Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: SLC22A4: 917T>C; Ile306Thr
Identification of Transporter Polymorphisms Influencing Metformin Pharmacokinetics in Healthy Volunteers.
Journal Of Personalized Medicine
Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Román, Manuel M; Camargo-Mamani, Paola P; Luquero-Bueno, Sergio S; Villapalos-García, Gonzalo G; Alcaraz, Raquel R; Mejía-Abril, Gina G; Santos-Mazo, Estefanía E; Abad-Santos, Francisco F
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
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: SLC22A4: 917T>C; I306T; rs272893
Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.
Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22
Variant appearance in text: SLC22A4: 917T>C; Ile306Thr
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: SLC22A4: 917T>C; I306T; rs272893
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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: SLC22A4: I306T; rs272893
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: SLC22A4: I306T; rs272893
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: SLC22A4: I306T; rs272893
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: SLC22A4: I306T; rs272893
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.
Molecular Genetics & Genomic Medicine
Guillen-Ahlers, Hector H; Erbe, Christy B CB; Chevalier, Frédéric D FD; Montoya, Maria J MJ; Zimmerman, Kip D KD; Langefeld, Carl D CD; Olivier, Michael M; Runge, Christina L CL
Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity.
The Journal Of Infectious Diseases
Sepúlveda, Nuno N; Manjurano, Alphaxard A; Campino, Susana G SG; Lemnge, Martha M; Lusingu, John J; Olomi, Raimos R; Rockett, Kirk A KA; Hubbart, Christina C; Jeffreys, Anna A; Rowlands, Kate K; Clark, Taane G TG; Riley, Eleanor M EM; Drakeley, Chris J CJ; ,
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
Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta-Analysis.
Clinical Pharmacology And Therapeutics
Dujic, T T; Zhou, K K; Yee, S W SW; van Leeuwen, N N; de Keyser, C E CE; Javorský, M M; Goswami, S S; Zaharenko, L L; Hougaard Christensen, M M MM; Out, M M; Tavendale, R R; Kubo, M M; Hedderson, M M MM; van der Heijden, A A AA; Klimčáková, L L; Pirags, V V; Kooy, A A; Brøsen, K K; Klovins, J J; Semiz, S S; Tkáč, I I; Stricker, B H BH; Palmer, Cna C; 't Hart, L M LM; Giacomini, K M KM; Pearson, E R ER
Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.
Scientific Reports
Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: SLC22A4: I306T; rs272893
Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.
Diabetologia
Fall, Tove T; Salihovic, Samira S; Brandmaier, Stefan S; Nowak, Christoph C; Ganna, Andrea A; Gustafsson, Stefan S; Broeckling, Corey D CD; Prenni, Jessica E JE; Kastenmüller, Gabi G; Peters, Annette A; Magnusson, Patrik K PK; Wang-Sattler, Rui R; Giedraitis, Vilmantas V; Berne, Christian C; Gieger, Christian C; Pedersen, Nancy L NL; Ingelsson, Erik E; Lind, Lars L
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: SLC22A4: I306T; rs272893
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N