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

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks

基因型优先检测方法揭示单基因脂肪营养不良症诊断不足,存在健康和死亡风险。

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Evans, Amy V; Hattersley, Andrew T; Weedon, Michael N; Brown, Rebecca J; Patel, Kashyap A

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes

灵长类特异性基因 ZNF808 的功能缺失变异会导致新生儿糖尿病、暂时性糖尿病和成人发病型糖尿病。

Russ-Silsby, James; Colclough, Kevin; Johnson, Matthew B; Wakeling, Matthew N; Owens, Nick D L; Amaratunga, Shenali A; Flanagan, Sarah E; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明,这些变异具有基因特异性效应,并扩展了导致 MODY 的 INS 变异谱。

Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见,具有靶向治疗的潜力,但识别难度较大。

Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY

基因确诊的MODY的患病率、外显率和死亡率

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Cannon, Stuart J; Laver, Thomas W; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing

患有糖尿病且至少伴有一种非自身免疫特征的儿童应考虑进行单基因糖尿病检测。

Myers, Rebecca; Yildiz, Melek; Nuri Ozbek, Mehmet; Manzoor, Jaida; Ibrahim, Mohsina; Yajnik, Chittaranjan; Atar, Muge; Şiklar, Zeynep; Acar, Sezer; Globa, Evgenia; Magdy Omar, Omneya; Demirbilek, Huseyin; Hassan, Samar; Demir, Korcan; Hanif, Misbah; Guran, Tulay; Hatipoglu, Nihal; Koçyiğit, Cemil; Colclough, Kevin; Houghton, Jayne; Hattersley, Andrew; Van Heugten, Rachel; Patel, Kashyap

The Resistance-Nodulation-Division efflux pump EefABC is highly conserved within lineages of E. coli commonly associated with infection

抗性-结节-分裂外排泵EefABC在与感染密切相关的E. coli谱系中高度保守。

Pugh, Hannah L; Darby, Elizabeth M; Burgess, Leah; Colclough, Abigail L; John, Asti-Rochelle Meosa; Dunn, Steven; Connor, Christopher; Perry, Eoughin A; McNally, Alan; Bavro, Vassiliy N; Blair, Jessica M A

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

家族性甲状腺髓样癌继发于SLC30A9基因内缺失和翻译重新起始

Iacovazzo, Donato; Begalli, Federica; Suleyman, Oniz; Doleschall, Márton; Alevizaki, Maria; Ashelford, Kevin E; Awad Mahmoud, Sherine; Barlier, Anne; Barry, Sayka; Brain, Caroline; Cabrera, Claudia P; Castinetti, Frédéric; Chiloiro, Sabrina; Colclough, Kevin; Csábi, Alexandra; Druce, Maralyn R; Dutta, Pinaki; Fatih, Jawid M; Foulkes, William D; Gandhi, Mira; Grochowski, Christopher M; Hall, Charlotte L; Jarząb, Barbara; Klein, Kathleen O; Krajewska, Jolanta; Kurzawinski, Tom R; Lamers, Sebastiaan; Lugli, Francesca; Magid, Kesson; Margraf, Rebecca; Martin, Carmen S; Mathiesen, Jes S; Mihai, Radu; Morrison, Patrick J; Mozere, Monika; Oczko-Wojciechowska, Małgorzata; Owens, Martina; Ozretić, Luka; Patócs, Attila; Piacentini, Serena; Punetha, Jaya; Romanet, Pauline; Savola, Suvi; Schoenfelder, Stefan; Scott-Coombes, David M; Stanescu, Horia; Tekman, Mehmet; Thomas, Laura E; Tóth, Miklós; Wingett, Steven W; Witcher, Michael; Carvalho, Claudia M B; Franke, Martin; Kleta, Robert; Lupski, James R; Sampson, Julian R; De Marinis, Laura; Korbonits, Márta

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes

常见遗传变异会影响单基因糖尿病的疾病风险和临床表现。

Murray Leech, Jacques; Beaumont, Robin N; Arni, Ankit M; Chundru, V Kartik; Sharp, Luke N; Colclough, Kevin; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A

AZ14289671 is a highly selective and blood-brain barrier penetrant irreversible TKI that targets EGFRExon20 insertions.

AZ14289671 是一种高选择性且能穿透血脑屏障的不可逆 TKI,靶向 EGFRExon20 插入

Swaih Aisha M, Talbot Sara, Savoca Adriana, Thorpe Hannah, Flemington Vikki, Phillips Benjamin, Colclough Nicola, McCoull William, Radeva Veronika, Hargreaves David, Packer Martin J, Felisberto-Rodrigues Catarina, Thomson Clare, Orme Jonathan P, Deane Carly, Smith Aaron, Johnström Peter, Schou Magnus, McWilliams Lisa, Davey Paul, Enget Marianne, O'Neill Daniel, Cosulich Sabina, Floc'h Nicolas