Diverse monogenic subforms of human spermatogenic failure.
Nature Communications
Nagirnaja, Liina L; Lopes, Alexandra M AM; Charng, Wu-Lin WL; Miller, Brian B; Stakaitis, Rytis R; Golubickaite, Ieva I; Stendahl, Alexandra A; Luan, Tianpengcheng T; Friedrich, Corinna C; Mahyari, Eisa E; Fadial, Eloise E; Kasak, Laura L; Vigh-Conrad, Katinka K; Oud, Manon S MS; Xavier, Miguel J MJ; Cheers, Samuel R SR; James, Emma R ER; Guo, Jingtao J; Jenkins, Timothy G TG; Riera-Escamilla, Antoni A; Barros, Alberto A; Carvalho, Filipa F; Fernandes, Susana S; Gonçalves, João J; Gurnett, Christina A CA; Jørgensen, Niels N; Jezek, Davor D; Jungheim, Emily S ES; Kliesch, Sabine S; McLachlan, Robert I RI; Omurtag, Kenan R KR; Pilatz, Adrian A; Sandlow, Jay I JI; Smith, James J; Eisenberg, Michael L ML; Hotaling, James M JM; Jarvi, Keith A KA; Punab, Margus M; Rajpert-De Meyts, Ewa E; Carrell, Douglas T DT; Krausz, Csilla C; Laan, Maris M; O'Bryan, Moira K MK; Schlegel, Peter N PN; Tüttelmann, Frank F; Veltman, Joris A JA; Almstrup, Kristian K; Aston, Kenneth I KI; Conrad, Donald F DF
Publication Date: 2022-12-26
Variant appearance in text: HSPA4L: 2054G>A; Gly685Asp; rs141383757
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: HSPA4L: G685D; rs141383757
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
Publication Date: 2014
Variant appearance in text: HSPA4L: G685D; rs141383757
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L