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

Targeting CDK12 disrupts estrogen-receptor chromatin recruitment and ER-MED1 transcription in advanced ER+ breast cancer

靶向 CDK12 会破坏晚期 ER+ 乳腺癌中雌激素受体染色质募集和 ER-MED1 转录

Ottaviani, Daniela; Ola, Mihaela; Allotta, Alessandra; Maati Chaibi, Yasmine; Hickey, Seán; Jagust, Petra; Cosgrove, Nicola; Cocchiglia, Sinéad; Bane, Fiona; Fallon, Ramón; Daly, Gordon; Hegarty, Aisling; Hudson, Lance; Sheehan, Katherine; Kalsi, Shannon; Shovlin, Stephen; Powell, Aoibhín; Bahl, Ash; Ainscow, Ed; Oesterreich, Steffi; Lee, Adrian V; Couch, Fergus J; Hill, Arnold D K; Varešlija, Damir; Young, Leonie

Correction: Ficany et al. Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia. J. Clin. Med. 2025, 14, 7724

更正:Ficany 等人,《遗传性出血性毛细血管扩张症的鼻出血预防、治疗及未来展望》,《临床医学杂志》,2025 年,14,7724

Ficany, Anthony; Del Alamo, Marta; Bernabeu, Carmelo; Shovlin, Claire L; Rossi, Elisa

Proteomic signatures of smoking and their associations with risk of incident diseases and mortality in diverse populations

吸烟的蛋白质组学特征及其与不同人群新发疾病和死亡风险的关联

Xiao, Sihao; Liu, Bowen; Argentieri, M Austin; Belbasis, Lazaros; Shovlin, Claire L; Collister, Jennifer A; Wang, Siyi; Hannon, Eilis; Liu, Jun; Chan, Kahung; Mosaoa, Rami Muath; Li, Liming; Lv, Jun; Yu, Canqin; Sun, Dianjianyi; Mill, Jonathan; Clarke, Robert; Hunter, David J; Bennett, Derrick; Nevado-Holgado, Alejo J; Chen, Zhengming; Amin, Najaf; van Duijn, Cornelia M

When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants

当“功能丧失”意味着蛋白质稳态负担时:重新思考编码DNA变异

Shovlin, Claire L; Aldred, Micheala A

Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia

遗传性出血性毛细血管扩张症的鼻出血预防、治疗及未来展望

Ficany, Anthony; Del Alamo, Marta; Bernabeu, Carmelo; Shovlin, Claire L; Rossi, Elisa

Elective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations - A 16 Year Single-Center Experience

择期胸外科手术切除治疗肺动静脉畸形——16年单中心经验

Al-Sahaf, May; Anderson, Jon; Nandi, Jayanta; Alsafi, Ali; Shovlin, Claire L

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

导致提前终止密码子的突变会造成遗传性出血性毛细血管扩张症(HHT)的细胞和临床变异。

Bernabéu-Herrero, Maria E; Patel, Dilipkumar; Bielowka, Adrianna; Zhu, JiaYi; Jain, Kinshuk; Mackay, Ian S; Chaves Guerrero, Patricia; Emanuelli, Giulia; Jovine, Luca; Noseda, Michela; Marciniak, Stefan J; Aldred, Micheala A; Shovlin, Claire L

Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes

根据遗传性出血性毛细血管扩张症 ACVRL1、ENG 和 SMAD4 基因型分析患者的缺铁反应和综合补偿

Sharma, Lakshya; Almaghlouth, Fatma; Mckernan, Heidi; Springett, James; Tighe, Hannah C; Shovlin, Claire L

Integration of genotypic data into clinical trial design and reporting in hereditary hemorrhagic telangiectasia could help personalize treatment

将基因型数据整合到遗传性出血性毛细血管扩张症的临床试验设计和报告中,有助于实现个体化治疗。

Modarresi, Atieh; Shovlin, Claire L

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

ACMG/AMP遗传性出血性毛细血管扩张症基因变异注释指南规范-ENG和ACVRL1

DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A; Jovine, Luca; Shovlin, Claire L; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S; Jessen, Jaime; Massink, Maarten P G; Ichikawa, Shoji; Bayrak-Toydemir, Pinar