Targeting CLDN6 in germ cell tumors by an antibody-drug-conjugate and studying therapy resistance of yolk-sac tumors to identify and screen specific therapeutic options.
Molecular Medicine (Cambridge, Mass.)
Skowron, Margaretha A MA; Kotthoff, Mara M; Bremmer, Felix F; Ruhnke, Katja K; Parmaksiz, Fatma F; Richter, Annika A; Küffer, Stefan S; Reuter-Jessen, Kirsten K; Pauls, Stella S; Stefanski, Anja A; Ströbel, Philipp P; Stühler, Kai K; Nettersheim, Daniel D
Publication Date: 2023-03-29
Variant appearance in text: NTRK1: 1810C>T; His604Tyr
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Human Genomics
Lee, Ning Yuan NY; Hum, Melissa M; Amali, Aseervatham Anusha AA; Lim, Wei Kiat WK; Wong, Matthew M; Myint, Matthew Khine MK; Tay, Ru Jin RJ; Ong, Pei-Yi PY; Samol, Jens J; Lim, Chia Wei CW; Ang, Peter P; Tan, Min-Han MH; Lee, Soo-Chin SC; Lee, Ann S G ASG
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
Bmc Medical Genomics
López-Cortés, Andrés A; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Echeverría, Byron Albuja BA; Guerrero, Santiago S; Cabascango, Eliana E; Pérez-Villa, Andy A; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Yumiceba, Verónica V; Pérez-M, Gabriela G; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-17
Variant appearance in text: NTRK1: His604Tyr; rs6336
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
Publication Date: 2019-02-27
Variant appearance in text: NTRK1: 1810C>T; rs6336
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Plos One
Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Bmc Medical Genomics
Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Oncotarget
Van Allen, Eliezer M EM; Robinson, Dan D; Morrissey, Colm C; Pritchard, Colin C; Imamovic, Alma A; Carter, Scott S; Rosenberg, Mara M; McKenna, Aaron A; Wu, Yi-Mi YM; Cao, Xuhong X; Chinnaiyan, Arul A; Garraway, Levi L; Nelson, Peter S PS
Publication Date: 2016-08-16
Variant appearance in text: NTRK1: 1810C>T; H604Y; rs6336
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Oncotarget
Jóri, Balazs B; Kamps, Rick R; Xanthoulea, Sofia S; Delvoux, Bert B; Blok, Marinus J MJ; Van de Vijver, Koen K KK; de Koning, Bart B; Oei, Felicia Trups FT; Tops, Carli M CM; Speel, Ernst Jm EJ; Kruitwagen, Roy F RF; Gomez-Garcia, Encarna B EB; Romano, Andrea A
Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.
Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: NTRK1: 1810C>T; H604Y; rs6336
Heritability and genetic association analysis of neuroimaging measures in the Diabetes Heart Study.
Neurobiology Of Aging
Raffield, Laura M LM; Cox, Amanda J AJ; Hugenschmidt, Christina E CE; Freedman, Barry I BI; Langefeld, Carl D CD; Williamson, Jeff D JD; Hsu, Fang-Chi FC; Maldjian, Joseph A JA; Bowden, Donald W DW
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
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
How a common variant in the growth factor receptor gene, NTRK1, affects white matter.
Bioarchitecture
Braskie, Meredith N MN; Jahanshad, Neda N; Toga, Arthur W AW; McMahon, Katie L KL; de Zubicaray, Greig I GI; Martin, Nicholas G NG; Wright, Margaret J MJ; Thompson, Paul M PM
Relationship of a variant in the NTRK1 gene to white matter microstructure in young adults.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Braskie, Meredith N MN; Jahanshad, Neda N; Stein, Jason L JL; Barysheva, Marina M; Johnson, Kori K; McMahon, Katie L KL; de Zubicaray, Greig I GI; Martin, Nicholas G NG; Wright, Margaret J MJ; Ringman, John M JM; Toga, Arthur W AW; Thompson, Paul M PM
Predicting white matter integrity from multiple common genetic variants.
Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Kohannim, Omid O; Jahanshad, Neda N; Braskie, Meredith N MN; Stein, Jason L JL; Chiang, Ming-Chang MC; Reese, April H AH; Hibar, Derrek P DP; Toga, Arthur W AW; McMahon, Katie L KL; de Zubicaray, Greig I GI; Medland, Sarah E SE; Montgomery, Grant W GW; Martin, Nicholas G NG; Wright, Margaret J MJ; Thompson, Paul M PM
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
Blood
Tomasson, Michael H MH; Xiang, Zhifu Z; Walgren, Richard R; Zhao, Yu Y; Kasai, Yumi Y; Miner, Tracie T; Ries, Rhonda E RE; Lubman, Olga O; Fremont, Daved H DH; McLellan, Michael D MD; Payton, Jacqueline E JE; Westervelt, Peter P; DiPersio, John F JF; Link, Daniel C DC; Walter, Matthew J MJ; Graubert, Timothy A TA; Watson, Mark M; Baty, Jack J; Heath, Sharon S; Shannon, William D WD; Nagarajan, Rakesh R; Bloomfield, Clara D CD; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ