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: DSPP: 2054A>G; Asn685Ser
Successful Treatment of Advanced Intrahepatic Cholangiocarcinoma With a High Tumor Mutational Burden and PD-L1 Expression by PD-1 Blockade Combined With Tyrosine Kinase Inhibitors: A Case Report.
Frontiers In Immunology
Zhang, Ze Z; Zhang, Wenwen W; Wang, Hongguang H; Hu, Bingyang B; Wang, Zhanbo Z; Lu, Shichun S
Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.
Nature Communications
Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A
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
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: DSPP: 2054A>G; N685S; rs199719429
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: DSPP: N685S; rs199719429
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
Publication Date: 2017-11-24
Variant appearance in text: DSPP: N685S; rs199719429
Dalin, Martin G MG; Katabi, Nora N; Persson, Marta M; Lee, Ken-Wing KW; Makarov, Vladimir V; Desrichard, Alexis A; Walsh, Logan A LA; West, Lyndsay L; Nadeem, Zaineb Z; Ramaswami, Deepa D; Havel, Jonathan J JJ; Kuo, Fengshen F; Chadalavada, Kalyani K; Nanjangud, Gouri J GJ; Ganly, Ian I; Riaz, Nadeem N; Ho, Alan L AL; Antonescu, Cristina R CR; Ghossein, Ronald R; Stenman, Göran G; Chan, Timothy A TA; Morris, Luc G T LGT
Publication Date: 2017-10-30
Variant appearance in text: DSPP: 2054A>G; Asn685Ser
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.
Genome Biology
Kim, Kyu-Tae KT; Lee, Hye Won HW; Lee, Hae-Ock HO; Kim, Sang Cheol SC; Seo, Yun Jee YJ; Chung, Woosung W; Eum, Hye Hyeon HH; Nam, Do-Hyun DH; Kim, Junhyong J; Joo, Kyeung Min KM; Park, Woong-Yang WY