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
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: RARA: T43S; rs116538651
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: RARA: T43S; rs116538651
A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Ley, Timothy J TJ; Minx, Patrick J PJ; Walter, Matthew J MJ; Ries, Rhonda E RE; Sun, Hui H; McLellan, Michael M; DiPersio, John F JF; Link, Daniel C DC; Tomasson, Michael H MH; Graubert, Timothy A TA; McLeod, Howard H; Khoury, Hanna H; Watson, Mark M; Shannon, William W; Trinkaus, Kathryn K; Heath, Sharon S; Vardiman, James W JW; Caligiuri, Michael A MA; Bloomfield, Clara D CD; Milbrandt, Jeffrey D JD; Mardis, Elaine R ER; Wilson, Richard K RK