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
Does circulating progesterone mediate the associations of single nucleotide polymorphisms in progesterone receptor (PGR)-related genes with mammographic breast density in premenopausal women?
Discover. Oncology
Akinjiyan, Favour A FA; Han, Yunan Y; Luo, Jingqin J; Toriola, Adetunji T AT
Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
Scientific Reports
Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M
Publication Date: 2021-08-24
Variant appearance in text: PGR: Val660Leu; rs1042838
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: PGR: 1978G>T; V660L; rs1042838
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Progesterone Receptor Gene Variants in Metastatic Estrogen Receptor Positive Breast Cancer.
Hormones & Cancer
Fowler, Amy M AM; Salem, Kelley K; DeGrave, Michael M; Ong, Irene M IM; Rassman, Shane S; Powers, Ginny L GL; Kumar, Manoj M; Michel, Ciara J CJ; Mahajan, Aparna M AM
Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.
Scientific Reports
Sánchez-Maldonado, Jose M JM; Cáliz, Rafael R; Canet, Luz L; Horst, Rob Ter RT; Bakker, Olivier O; den Broeder, Alfons A AA; Martínez-Bueno, Manuel M; Canhão, Helena H; Rodríguez-Ramos, Ana A; Lupiañez, Carmen B CB; Soto-Pino, María José MJ; García, Antonio A; Pérez-Pampin, Eva E; González-Utrilla, Alfonso A; Escudero, Alejandro A; Segura-Catena, Juana J; Netea-Maier, Romana T RT; Ferrer, Miguel Ángel MÁ; Collantes-Estevez, Eduardo E; López Nevot, Miguel Ángel MÁ; Li, Yang Y; Jurado, Manuel M; Fonseca, João E JE; Netea, Mihai G MG; Coenen, Marieke J H MJH; Sainz, Juan J
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
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss.
Journal Of Assisted Reproduction And Genetics
Arias-Sosa, Luis Alejandro LA; Acosta, Iván Darío ID; Lucena-Quevedo, Elkin E; Moreno-Ortiz, Harold H; Esteban-Pérez, Clara C; Forero-Castro, Maribel M
Publication Date: 2018-03
Variant appearance in text: PGR: Val660Leu; rs1042838
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.
Plos One
Rozenblum, Ester E; Sotelo-Silveira, Jose R JR; Kim, Gina Y GY; Zhu, Jack Y JY; Lau, Christopher C CC; McNeil, Nicole N; Korolevich, Susana S; Liao, Hongling H; Cherry, James M JM; Munroe, David J DJ; Ried, Thomas T; Meltzer, Paul S PS; Kuehl, Walter M WM; Roschke, Anna V AV
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors.
Breast Cancer (Dove Medical Press)
Koleck, Theresa A TA; Bender, Catherine M CM; Clark, Beth Z BZ; Ryan, Christopher M CM; Ghotkar, Puja P; Brufsky, Adam A; McAuliffe, Priscilla F PF; Rastogi, Priya P; Sereika, Susan M SM; Conley, Yvette P YP
Publication Date: 2017
Variant appearance in text: PGR: Val660Leu; rs1042838
O039. Case-control genetic association studies in migraine: a 7-year experience at the Interinstitutional Multidisciplinary Biobank (BioBIM) of IRCCS San Raffaele Pisana.
The Journal Of Headache And Pain
Barbanti, Piero P; Palmirotta, Raffaele R; De Marchis, Maria Laura ML; Ialongo, Cristiano C; Egeo, Gabriella G; Aurilia, Cinzia C; Fofi, Luisa L; Piroso, Serena S; Fratangeli, Federica F; Valente, Maria Giovanna MG; Guadagni, Fiorella F
ESR1 and PGR polymorphisms are associated with estrogen and progesterone receptor expression in breast tumors.
Physiological Genomics
Hertz, Daniel L DL; Henry, N Lynn NL; Kidwell, Kelley M KM; Thomas, Dafydd D; Goddard, Audrey A; Azzouz, Faouzi F; Speth, Kelly K; Li, Lang L; Banerjee, Mousumi M; Thibert, Jacklyn N JN; Kleer, Celina G CG; Stearns, Vered V; Hayes, Daniel F DF; Skaar, Todd C TC; Rae, James M JM
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Hormone-related pathways and risk of breast cancer subtypes in African American women.
Breast Cancer Research And Treatment
Haddad, Stephen A SA; Lunetta, Kathryn L KL; Ruiz-Narváez, Edward A EA; Bensen, Jeannette T JT; Hong, Chi-Chen CC; Sucheston-Campbell, Lara E LE; Yao, Song S; Bandera, Elisa V EV; Rosenberg, Lynn L; Haiman, Christopher A CA; Troester, Melissa A MA; Ambrosone, Christine B CB; Palmer, Julie R JR
Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population.
Archives Of Medical Science : Ams
Gallegos-Arreola, Martha Patricia MP; Figuera, Luis E LE; Flores-Ramos, Liliana Gómez LG; Puebla-Pérez, Ana María AM; Zúñiga-González, Guillermo Moisés GM
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20
Variant appearance in text: PGR: 1978G>T; V660L; rs1042838
A Survival Association Study of 102 Polymorphisms Previously Associated with Survival Outcomes in Colorectal Cancer.
Biomed Research International
Savas, Sevtap S; Xu, Jingxiong J; Werdyani, Salem S; Shestopaloff, Konstantin K; Dicks, Elizabeth E; Green, Jane J; Parfrey, Patrick P; Green, Roger R; Xu, Wei W
Publication Date: 2015
Variant appearance in text: PGR: Val660Leu; rs1042838
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