Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Iscience
Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E
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
Publication Date: 2022-10-14
Variant appearance in text: ACTL9: A51A; rs10410943
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
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
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Diabetes
Yaghootkar, Hanieh H; Zhang, Yiying Y; Spracklen, Cassandra N CN; Karaderi, Tugce T; Huang, Lam Opal LO; Bradfield, Jonathan J; Schurmann, Claudia C; Fine, Rebecca S RS; Preuss, Michael H MH; Kutalik, Zoltan Z; Wittemans, Laura B L LBL; Lu, Yingchang Y; Metz, Sophia S; Willems, Sara M SM; Li-Gao, Ruifang R; Grarup, Niels N; Wang, Shuai S; Molnos, Sophie S; Sandoval-Zárate, América A AA; Nalls, Mike A MA; Lange, Leslie A LA; Haesser, Jeffrey J; Guo, Xiuqing X; Lyytikäinen, Leo-Pekka LP; Feitosa, Mary F MF; Sitlani, Colleen M CM; Venturini, Cristina C; Mahajan, Anubha A; Kacprowski, Tim T; Wang, Carol A CA; Chasman, Daniel I DI; Amin, Najaf N; Broer, Linda L; Robertson, Neil N; Young, Kristin L KL; Allison, Matthew M; Auer, Paul L PL; Blüher, Matthias M; Borja, Judith B JB; Bork-Jensen, Jette J; Carrasquilla, Germán D GD; Christofidou, Paraskevi P; Demirkan, Ayse A; Doege, Claudia A CA; Garcia, Melissa E ME; Graff, Mariaelisa M; Guo, Kaiying K; Hakonarson, Hakon H; Hong, Jaeyoung J; Ida Chen, Yii-Der YD; Jackson, Rebecca R; Jakupović, Hermina H; Jousilahti, Pekka P; Justice, Anne E AE; Kähönen, Mika M; Kizer, Jorge R JR; Kriebel, Jennifer J; LeDuc, Charles A CA; Li, Jin J; Lind, Lars L; Luan, Jian'an J; Mackey, David A DA; Mangino, Massimo M; Männistö, Satu S; Martin Carli, Jayne F JF; Medina-Gomez, Carolina C; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; de Mutsert, Renée R; Nauck, Matthias M; Prokic, Ivana I; Pennell, Craig E CE; Pradhan, Arund D AD; Psaty, Bruce M BM; Raitakari, Olli T OT; Scott, Robert A RA; Skaaby, Tea T; Strauch, Konstantin K; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, Andre G AG; Wu, Ying Y; Yao, Jie J; Walker, Mark M; North, Kari E KE; Kovacs, Peter P; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Ridker, Paul M PM; Lye, Stephen S; Homuth, Georg G; Ingelsson, Erik E; Spector, Tim D TD; McKnight, Barbara B; Province, Michael A MA; Lehtimäki, Terho T; Adair, Linda S LS; Rotter, Jerome I JI; Reiner, Alexander P AP; Wilson, James G JG; Harris, Tamara B TB; Ripatti, Samuli S; Grallert, Harald H; Meigs, James B JB; Salomaa, Veikko V; Hansen, Torben T; Willems van Dijk, Ko K; Wareham, Nicholas J NJ; Grant, Struan F A SFA; Langenberg, Claudia C; Frayling, Timothy M TM; Lindgren, Cecilia M CM; Mohlke, Karen L KL; Leibel, Rudolph L RL; Loos, Ruth J F RJF; Kilpeläinen, Tuomas O TO
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
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
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
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
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
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