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

Live-cell quantification reveals viscoelastic regulation of synapsin condensates by α-synuclein.

活细胞定量分析揭示了α-突触核蛋白对突触蛋白凝聚体的粘弹性调节

Wang Huan, Hoffmann Christian, Tromm Johannes V, Su Xiao, Elliott Jordan, Wang Han, Deng Mengying, McClenaghan Conor, Baum Jean, Pang Zhiping P, Milovanovic Dragomir, Shi Zheng

Volume-Regulated Anion Channel Complex Modulates Mechano-Electrical Signal Responses in Human Airway Smooth Muscle Shortening

容量调节阴离子通道复合物调节人呼吸道平滑肌收缩中的机械电信号反应

Woo, Joanna; Cao, Gaoyuan; Karmacharya, Nikhil; Lee, Jordan; Lee, Justin; Duru, Kingsley C; McClenaghan, Conor; An, Steven S; Panettieri, Reynold A Jr; Jude, Joseph A

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

新型功能缺失变异体扩展了ABCC9相关的智力障碍和肌病综合征

Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin A; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie F; McClenaghan, Conor

Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells

钙激活氯离子通道调节因子4 (CLCA4) 对人细胞中TMEM16B通道活性的调节

Sala-Rabanal, Monica; Yurtsever, Zeynep; Berry, Kayla N; McClenaghan, Conor; Foy, Alyssa J; Hanson, Alex; Steinberg, Deborah F; Greven, Jessica A; Kluender, Colin E; Alexander-Brett, Jennifer M; Nichols, Colin G; Brett, Tom J

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

淋巴水肿作为坎图综合征的首发临床表现:在鉴定出ABCC9基因功能获得性变异后表型发生逆转

Gao, Jian; McClenaghan, Conor; Christiaans, Imke; Alders, Marielle; van Duinen, Kirsten; van Haelst, Mieke M; van Haaften, Gijs; Nichols, Colin G

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K(ATP) Channel Mutations in Intact Cells

快速表征坎图综合征K(ATP)通道突变在完整细胞中的功能和药理学后果

Gao, Jian; McClenaghan, Conor; Matreyek, Kenneth A; Grange, Dorothy K; Nichols, Colin G

A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

坎图综合征中由低全身血管阻力引起的独特高输出量心脏肥大表型

Singh, Gautam K; McClenaghan, Conor; Aggarwal, Manish; Gu, Hongjie; Remedi, Maria S; Grange, Dorothy K; Nichols, Colin G

Kir6.1 and SUR2B in Cantú syndrome

Cantú 综合征中的 Kir6.1 和 SUR2B

McClenaghan, Conor; Nichols, Colin G

Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?

连接个体与群体在兴奋性疾病中的作用:罕见病研究能否从单基因离子通道病中发现普遍适用的机制?

Nichols, Colin G; McClenaghan, Conor

Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2

Kir6.2基因中Tyr330His严重功能获得性突变引起的磺脲类药物不敏感的永久性新生儿糖尿病

McClenaghan, Conor; Rapini, Novella; De Rose, Domenico Umberto; Gao, Jian; Roeglin, Jacob; Bizzarri, Carla; Schiaffini, Riccardo; Tiberi, Eloisa; Mucciolo, Mafalda; Deodati, Annalisa; Perri, Alessandro; Vento, Giovanni; Barbetti, Fabrizio; Nichols, Colin G; Cianfarani, Stefano