Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: IFT46: 26G>A; Cys9Tyr; rs11552421
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
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15
Variant appearance in text: IFT46: Cys9Tyr; rs11552421
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: IFT46: 26G>A; C9Y; rs11552421
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
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
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
Publication Date: 2018-11-02
Variant appearance in text: IFT46: C9Y; rs11552421
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: IFT46: C9Y; rs11552421
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
Plos Genetics
Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis S CS; Allen, Mariet M; Crook, Julia J; Pankratz, V Shane VS; Carrasquillo, Minerva M MM; Rowley, Christopher N CN; Nair, Asha A AA; Middha, Sumit S; Maharjan, Sooraj S; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly G KG; Palusak, Ryan R; Lincoln, Sarah S; Bisceglio, Gina G; Georgescu, Constantin C; Kouri, Naomi N; Kolbert, Christopher P CP; Jen, Jin J; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; , ; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Human Molecular Genetics
Murphy, Amy A; Chu, Jen-Hwa JH; Xu, Mousheng M; Carey, Vincent J VJ; Lazarus, Ross R; Liu, Andy A; Szefler, Stanley J SJ; Strunk, Robert R; Demuth, Karen K; Castro, Mario M; Hansel, Nadia N NN; Diette, Gregory B GB; Vonakis, Becky M BM; Adkinson, N Franklin NF; Klanderman, Barbara J BJ; Senter-Sylvia, Jody J; Ziniti, John J; Lange, Christoph C; Pastinen, Tomi T; Raby, Benjamin A BA