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: MTOR: L2303L; rs11121691
Genetic variants in LKB1/AMPK/mTOR pathway are associated with clinical outcomes of chemotherapy in non-small cell lung cancer.
Thoracic Cancer
Choi, Sun Ha SH; Do, Sook Kyung SK; Lee, Shin Yup SY; Choi, Jin Eun JE; Kang, Hyo-Gyoung HG; Hong, Mi Jeong MJ; Lee, Jang Hyuck JH; Lee, Won Kee WK; Jeong, Ji Yun JY; Shin, Kyung Min KM; Do, Young Woo YW; Lee, Eung Bae EB; Park, Ji Eun JE; Lee, Yong Hoon YH; Seo, Hyewon H; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Park, Jae Yong JY
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: MTOR: 6909G>A; L2303L; rs11121691
Zika Virus Congenital Syndrome and MTOR gene variants: insights from a family of dizygotic twins.
Heliyon
de O da Silva, Luciana Reboredo LR; Oliveira, Pablo P; Sardi, Silvia S; Soares, Gubio G; Bandeira, Antônio Carlos AC; Costa, Ryan Dos Santos RDS; Rafaels, Nicholas N; Campbell, Monica M; Brunetti, Tonya T; Crooks, Kristy K; Daya, Michelle M; Teixeira, Maria Glória MG; Carneiro, Valdirene Leão VL; Barnes, Kathleen K; Figueiredo, Camila A CA
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20
Variant appearance in text: MTOR: 6909G>A; rs11121691
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: MTOR: L2303L; rs11121691
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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.
Immunometabolic Pathways in BCG-Induced Trained Immunity.
Cell Reports
Arts, Rob J W RJW; Carvalho, Agostinho A; La Rocca, Claudia C; Palma, Carla C; Rodrigues, Fernando F; Silvestre, Ricardo R; Kleinnijenhuis, Johanneke J; Lachmandas, Ekta E; Gonçalves, Luís G LG; Belinha, Ana A; Cunha, Cristina C; Oosting, Marije M; Joosten, Leo A B LAB; Matarese, Giuseppe G; van Crevel, Reinout R; Netea, Mihai G MG
Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.
Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
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
Publication Date: 2014
Variant appearance in text: MTOR: L2303L; rs11121691
Heritability and genetic etiology of habitual physical activity: a twin study with objective measures.
Genes & Nutrition
Gielen, M M; Westerterp-Plantenga, M S MS; Bouwman, F G FG; Joosen, A M C P AM; Vlietinck, R R; Derom, C C; Zeegers, M P MP; Mariman, E C M EC; Westerterp, K R KR
Publication Date: 2014-07
Variant appearance in text: MTOR: Leu2303Leu; rs11121691
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR