Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17
Variant appearance in text: LIG4: 8C>T; Ala3Val; rs1805389
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
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
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Frontiers In Pediatrics
Staines Boone, Aidé Tamara AT; Chinn, Ivan K IK; Alaez-Versón, Carmen C; Yamazaki-Nakashimada, Marco A MA; Carrillo-Sánchez, Karol K; García-Cruz, María de la Luz Hortensia MLH; Poli, M Cecilia MC; González Serrano, M Edith ME; Medina Torres, Edgar A EA; Muzquiz Zermeño, David D; Forbes, Lisa R LR; Espinosa-Rosales, Francisco J FJ; Espinosa-Padilla, Sara E SE; Orange, Jordan S JS; Lugo Reyes, Saul Oswaldo SO
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
Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Wang, Xuexia X; Sun, Can-Lan CL; Hageman, Lindsey L; Smith, Kandice K; Singh, Purnima P; Desai, Sunil S; Hawkins, Douglas S DS; Hudson, Melissa M MM; Mascarenhas, Leo L; Neglia, Joseph P JP; Oeffinger, Kevin C KC; Ritchey, A Kim AK; Robison, Leslie L LL; Villaluna, Doojduen D; Landier, Wendy W; Bhatia, Smita S
Among 45 variants in 11 genes, HDM2 promoter polymorphisms emerge as new candidate biomarker associated with radiation toxicity.
3 Biotech
Alsbeih, Ghazi G; El-Sebaie, Medhat M; Al-Rajhi, Nasser N; Al-Harbi, Najla N; Al-Hadyan, Khaled K; Al-Qahtani, Sara S; Alsubael, Mohammad M; Al-Shabanah, Mohammad M; Moftah, Belal B
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Bmc Medical Genetics
Fadda, Abeer A; Butt, Fiza F; Tomei, Sara S; Deola, Sara S; Lo, Bernice B; Robay, Amal A; Al-Shakaki, Alya A; Al-Hajri, Noor N; Crystal, Ronald R; Kambouris, Marios M; Wang, Ena E; Marincola, Francesco M FM; Fakhro, Khalid A KA; Cugno, Chiara C
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
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
Ng, Pauline C PC; Levy, Samuel S; Huang, Jiaqi J; Stockwell, Timothy B TB; Walenz, Brian P BP; Li, Kelvin K; Axelrod, Nelson N; Busam, Dana A DA; Strausberg, Robert L RL; Venter, J Craig JC