Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.
Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Overcoming enzalutamide resistance in metastatic prostate cancer by targeting sphingosine kinase.
Ebiomedicine
Lin, Hui-Ming HM; Mak, Blossom B; Yeung, Nicole N; Huynh, Kevin K; Meikle, Thomas G TG; Mellett, Natalie A NA; Kwan, Edmond M EM; Fettke, Heidi H; Tran, Ben B; Davis, Ian D ID; Mahon, Kate L KL; Zhang, Alison A; Stockler, Martin R MR; Briscoe, Karen K; Marx, Gavin G; Crumbaker, Megan M; Stricker, Phillip D PD; Du, Pan P; Yu, Jianjun J; Jia, Shidong S; Scheinberg, Tahlia T; Fitzpatrick, Michael M; Bonnitcha, Paul P; Sullivan, David R DR; Joshua, Anthony M AM; Azad, Arun A AA; Butler, Lisa M LM; Meikle, Peter J PJ; Horvath, Lisa G LG
Publication Date: 2021-10
Variant appearance in text: TG: 1174C>T; Pro392Ser
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes.
Frontiers In Cell And Developmental Biology
Landero-Huerta, Daniel Adrian DA; Vigueras-Villaseñor, Rosa María RM; Yokoyama-Rebollar, Emiy E; García-Andrade, Fabiola F; Rojas-Castañeda, Julio César JC; Herrera-Montalvo, Luis Alonso LA; Díaz-Chávez, José J; Pérez-Añorve, Isidro Xavier IX; Aréchaga-Ocampo, Elena E; Chávez-Saldaña, Margarita Dolores MD
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Human Mutation
Knarston, Ingrid M IM; Robevska, Gorjana G; van den Bergen, Jocelyn A JA; Eggers, Stefanie S; Croft, Brittany B; Yates, Jason J; Hersmus, Remko R; Looijenga, Leendert H J LHJ; Cameron, Fergus J FJ; Monhike, Klaus K; Ayers, Katie L KL; Sinclair, Andrew H AH
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y