日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

软骨肉瘤中主要软骨胶原基因COL2A1的频繁突变

Tarpey, Patrick S; Behjati, Sam; Cooke, Susanna L; Van Loo, Peter; Wedge, David C; Pillay, Nischalan; Marshall, John; O'Meara, Sarah; Davies, Helen; Nik-Zainal, Serena; Beare, David; Butler, Adam; Gamble, John; Hardy, Claire; Hinton, Jonathon; Jia, Ming Ming; Jayakumar, Alagu; Jones, David; Latimer, Calli; Maddison, Mark; Martin, Sancha; McLaren, Stuart; Menzies, Andrew; Mudie, Laura; Raine, Keiran; Teague, Jon W; Tubio, Jose M C; Halai, Dina; Tirabosco, Roberto; Amary, Fernanda; Campbell, Peter J; Stratton, Michael R; Flanagan, Adrienne M; Futreal, P Andrew

Signatures of mutation and selection in the cancer genome

癌症基因组中的突变和选择特征

Bignell, Graham R; Greenman, Chris D; Davies, Helen; Butler, Adam P; Edkins, Sarah; Andrews, Jenny M; Buck, Gemma; Chen, Lina; Beare, David; Latimer, Calli; Widaa, Sara; Hinton, Jonathon; Fahey, Ciara; Fu, Beiyuan; Swamy, Sajani; Dalgliesh, Gillian L; Teh, Bin T; Deloukas, Panos; Yang, Fengtang; Campbell, Peter J; Futreal, P Andrew; Stratton, Michael R

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

ZDHHC9基因的突变(该基因编码NRAS和HRAS的棕榈酰转移酶)会导致X连锁智力低下,并伴有马凡氏体征。

Raymond, F Lucy; Tarpey, Patrick S; Edkins, Sarah; Tofts, Calli; O'Meara, Sarah; Teague, Jon; Butler, Adam; Stevens, Claire; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Perry, Janet; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Shaw, Marie; Boyle, Jackie; Kerr, Bronwyn; Turner, Gillian; Quarrell, Oliver; Cole, Trevor; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

编码衔接蛋白 1 复合物 Sigma 2 亚基的基因 AP1S2 发生突变,会导致 X 连锁智力低下

Tarpey Patrick S, Stevens Claire, Teague Jon, Edkins Sarah, O'Meara Sarah, Avis Tim, Barthorpe Syd, Buck Gemma, Butler Adam, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Harrison Rachel, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Tofts Calli, Varian Jennifer, West Sofie, Widaa Sara, Yates Andy, Catford Rachael, Butler Julia, Mallya Uma, Moon Jenny, Luo Ying, Dorkins Huw, Thompson Deborah, Easton Douglas F, Wooster Richard, Bobrow Martin, Carpenter Nancy, Simensen Richard J, Schwartz Charles E, Stevenson Roger E, Turner Gillian, Partington Michael, Gecz Jozef, Stratton Michael R, Futreal P Andrew, Raymond F Lucy

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

对青少年和成人睾丸生殖细胞肿瘤中蛋白激酶基因家族进行序列分析

Bignell, Graham; Smith, Raffaella; Hunter, Chris; Stephens, Philip; Davies, Helen; Greenman, Chris; Teague, Jon; Butler, Adam; Edkins, Sarah; Stevens, Claire; O'Meara, Sarah; Parker, Adrian; Avis, Tim; Barthorpe, Syd; Brackenbury, Lisa; Buck, Gemma; Clements, Jody; Cole, Jennifer; Dicks, Ed; Edwards, Ken; Forbes, Simon; Gorton, Matthew; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Hinton, Jonathon; Jones, David; Kosmidou, Vivienne; Laman, Ross; Lugg, Richard; Menzies, Andrew; Perry, Janet; Petty, Robert; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Solomon, Helen; Stephens, Yvonne; Tofts, Calli; Varian, Jennifer; Webb, Anthony; West, Sofie; Widaa, Sara; Yates, Andy; Gillis, Ad J M; Stoop, Hans J; van Gurp, Ruud J H L M; Oosterhuis, J Wolter; Looijenga, Leendert H J; Futreal, P Andrew; Wooster, Richard; Stratton, Michael R