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

The Vast Majority of Patients With Fibromyalgia Have a Straight Neck Observed on a Lateral View Radiograph of the Cervical Spine: An Aid in the Diagnosis of Fibromyalgia and a Possible Clue to the Etiology

绝大多数纤维肌痛患者在颈椎侧位X线片上表现为颈部伸直:这有助于纤维肌痛的诊断,并可能提示其病因。

Katz, Robert S; Leavitt, Frank; Cherny, Katya; Small, Alexandra Katz; Small, Ben J

Cell-Active Small Molecule Inhibitors of the DNA-Damage Repair Enzyme Poly(ADP-ribose) Glycohydrolase (PARG): Discovery and Optimization of Orally Bioavailable Quinazolinedione Sulfonamides

DNA 损伤修复酶聚(ADP-核糖)糖水解酶 (PARG) 的细胞活性小分子抑制剂:口服生物可利用的喹唑啉二酮磺酰胺的发现和优化

Bohdan Waszkowycz, Kate M Smith, Alison E McGonagle, Allan M Jordan, Ben Acton, Emma E Fairweather, Louise A Griffiths, Niall M Hamilton, Nicola S Hamilton, James R Hitchin, Colin P Hutton, Dominic I James, Clifford D Jones, Stuart Jones, Daniel P Mould, Helen F Small, Alexandra I J Stowell, Julie A

First-in-Class Chemical Probes against Poly(ADP-ribose) Glycohydrolase (PARG) Inhibit DNA Repair with Differential Pharmacology to Olaparib

针对聚(ADP-核糖)糖水解酶 (PARG) 的首创化学探针可抑制 DNA 修复,具有与 Olaparib 不同的药理学作用

Dominic I James, Kate M Smith, Allan M Jordan, Emma E Fairweather, Louise A Griffiths, Nicola S Hamilton, James R Hitchin, Colin P Hutton, Stuart Jones, Paul Kelly, Alison E McGonagle, Helen Small, Alexandra I J Stowell, Julie Tucker, Ian D Waddell, Bohdan Waszkowycz, Donald J Ogilvie

Patterns of somatic mutation in human cancer genomes

人类癌症基因组中的体细胞突变模式

Greenman, Christopher; Stephens, Philip; Smith, Raffaella; Dalgliesh, Gillian L; Hunter, Christopher; Bignell, Graham; Davies, Helen; Teague, Jon; Butler, Adam; Stevens, Claire; Edkins, Sarah; O'Meara, Sarah; Vastrik, Imre; Schmidt, Esther E; Avis, Tim; Barthorpe, Syd; Bhamra, Gurpreet; Buck, Gemma; Choudhury, Bhudipa; Clements, Jody; Cole, Jennifer; Dicks, Ed; Forbes, Simon; Gray, Kris; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Hinton, Jon; Jenkinson, Andy; Jones, David; Menzies, Andy; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, Dave; Shepherd, Rebecca; Small, Alexandra; Tofts, Calli; Varian, Jennifer; Webb, Tony; West, Sofie; Widaa, Sara; Yates, Andy; Cahill, Daniel P; Louis, David N; Goldstraw, Peter; Nicholson, Andrew G; Brasseur, Francis; Looijenga, Leendert; Weber, Barbara L; Chiew, Yoke-Eng; DeFazio, Anna; Greaves, Mel F; Green, Anthony R; Campbell, Peter; Birney, Ewan; Easton, Douglas F; Chenevix-Trench, Georgia; Tan, Min-Han; Khoo, Sok Kean; Teh, Bin Tean; Yuen, Siu Tsan; Leung, Suet Yi; Wooster, Richard; Futreal, P Andrew; Stratton, Michael R

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

编码泛素E3连接酶亚基的CUL4B基因突变会导致一种X连锁智力低下综合征,该综合征伴有攻击性爆发、癫痫发作、相对性巨头畸形、中心性肥胖、性腺功能减退、高弓足和震颤。

Tarpey, Patrick S; Raymond, F Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F; Hurst, Jane A; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K; Stevenson, Roger E; Schwartz, Charles E; Turner, Gillian; Gecz, Jozef; Futreal, P Andrew; Stratton, Michael R; Partington, Michael

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 BRWD3 gene cause X-linked mental retardation associated with macrocephaly

BRWD3基因突变会导致X连锁智力低下,并伴有巨头畸形

Field, Michael; Tarpey, Patrick S; Smith, Raffaella; Edkins, Sarah; O'Meara, Sarah; Stevens, Claire; Tofts, Calli; Teague, Jon; Butler, Adam; Dicks, Ed; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Wooster, Richard; Moon, Jenny; Luo, Ying; Hughes, Helen; Shaw, Marie; Friend, Kathryn L; Corbett, Mark; Turner, Gillian; Partington, Michael; Mulley, John; Bobrow, Martin; Schwartz, Charles; Stevenson, Roger; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew; Raymond, F Lucy

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