Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Frontiers In Neurology
Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG
TRAP1 chaperone protein mutations and autoinflammation.
Life Science Alliance
Standing, Ariane Si AS; Hong, Ying Y; Paisan-Ruiz, Coro C; Omoyinmi, Ebun E; Medlar, Alan A; Stanescu, Horia H; Kleta, Robert R; Rowcenzio, Dorota D; Hawkins, Philip P; Lachmann, Helen H; McDermott, Michael F MF; Eleftheriou, Despina D; Klein, Nigel N; Brogan, Paul A PA
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: TRAP1: Y444N; rs61756351
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: TRAP1: Y444N; rs61756351
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: TRAP1: Y444N; rs61756351
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Blood
Rowczenio, Dorota M DM; Pathak, Shelly S; Arostegui, Juan I JI; Mensa-Vilaro, Anna A; Omoyinmi, Ebun E; Brogan, Paul P; Lipsker, Dan D; Scambler, Thomas T; Owen, Roger R; Trojer, Hadija H; Baginska, Anna A; Gillmore, Julian D JD; Wechalekar, Ashutosh D AD; Lane, Thirusha T; Williams, Rene R; Youngstein, Taryn T; Hawkins, Philip N PN; Savic, Sinisa S; Lachmann, Helen J HJ
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: TRAP1: Y444N; rs61756351
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: TRAP1: 1330T>A; Tyr444Asn
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: TRAP1: Y444N; rs61756351
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Mitochondrion
Boles, Richard G RG; Hornung, Holly A HA; Moody, Alastair E AE; Ortiz, Thomas B TB; Wong, Stacey A SA; Eggington, Julie M JM; Stanley, Christine M CM; Gao, Mu M; Zhou, Hongyi H; McLaughlin, Stephen S; Zare, Amir S AS; Sheldon, Katherine M KM; Skolnick, Jeffrey J; McKernan, Kevin J KJ
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney International
Saisawat, Pawaree P; Kohl, Stefan S; Hilger, Alina C AC; Hwang, Daw-Yang DY; Yung Gee, Heon H; Dworschak, Gabriel C GC; Tasic, Velibor V; Pennimpede, Tracie T; Natarajan, Sivakumar S; Sperry, Ethan E; Matassa, Danilo S DS; Stajić, Nataša N; Bogdanovic, Radovan R; de Blaauw, Ivo I; Marcelis, Carlo L M CL; Wijers, Charlotte H W CH; Bartels, Enrika E; Schmiedeke, Eberhard E; Schmidt, Dominik D; Märzheuser, Stefanie S; Grasshoff-Derr, Sabine S; Holland-Cunz, Stefan S; Ludwig, Michael M; Nöthen, Markus M MM; Draaken, Markus M; Brosens, Erwin E; Heij, Hugo H; Tibboel, Dick D; Herrmann, Bernhard G BG; Solomon, Benjamin D BD; de Klein, Annelies A; van Rooij, Iris A L M IA; Esposito, Franca F; Reutter, Heiko M HM; Hildebrandt, Friedhelm F