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

AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

AR 与 SMAD4 协同维持骨骼肌稳态

Mitra Forouhan, Wooi Fang Lim, Laura C Zanetti-Domingues, Christopher J Tynan, Thomas C Roberts, Bilal Malik, Raquel Manzano, Alfina A Speciale, Ruth Ellerington, Antonio Garcia-Guerra, Pietro Fratta, Gianni Sorarú, Linda Greensmith, Maria Pennuto, Matthew J A Wood, Carlo Rinaldi

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

AR 亚型 2 基因治疗通过调节 AR 转录活性挽救脊髓和延髓肌萎缩表型

Wooi F Lim, Mitra Forouhan, Thomas C Roberts, Jesse Dabney, Ruth Ellerington, Alfina A Speciale, Raquel Manzano, Maria Lieto, Gavinda Sangha, Subhashis Banerjee, Mariana Conceição, Lara Cravo, Annabelle Biscans, Loïc Roux, Naemeh Pourshafie, Christopher Grunseich, Stephanie Duguez, Anastasia Khvorov

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

ATP6V0A1 变异可导致进行性肌阵挛性癫痫以及发育性和癫痫性脑病

Laura C Bott, Mitra Forouhan, Maria Lieto, Ambre J Sala, Ruth Ellerington, Janel O Johnson, Alfina A Speciale, Chiara Criscuolo, Alessandro Filla, David Chitayat, Ebba Alkhunaizi, Patrick Shannon, Andrea H Nemeth; Italian Undiagnosed Diseases Network; Francesco Angelucci, Wooi Fang Lim, Pasquale Str

Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X

ATF6α 和 ATF6β 在调节 X 胶原蛋白突变引起的疾病严重程度方面的矛盾作用

M Forouhan, K Mori, R P Boot-Handford

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene

卡马西平可降低因 Col10a1 基因中过早终止密码子 (Y632X) 引起的 Schmid 型干骺端软骨发育不良症小鼠模型的疾病严重程度

Mitra Forouhan, Stephan Sonntag, Raymond P Boot-Handford

Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism

细胞内蛋白水解增加可减轻内质网应激相关侏儒症的疾病严重程度。

Mullan, Lorna A; Mularczyk, Ewa J; Kung, Louise H; Forouhan, Mitra; Wragg, Jordan Ma; Goodacre, Royston; Bateman, John F; Swanton, Eileithyia; Briggs, Michael D; Boot-Handford, Raymond P

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

CCDC39 和 CCDC40 基因突变是原发性纤毛运动障碍伴微管紊乱的主要原因。

Liu, Luke L; Fame, Ryann M; Grampa, V; Delous, M; Silbermann, F; Oyde, G; Krug, P; Filhol, E; Alessandri, JL; Sigaudy, S; Bouvier, R; Zabot, MT; Antignac, C; Gubler, M; Attié-Bitach, T; Benmerah, A; Jeanpierre, C; Saunier, S; Lu, Q; Koutroumpas, K; Boldt, K; Reeuwijk, J Van; Katsanis, N; Képès, F; Roepman, R; Ueffing, M; Russell, RB; Robson, E; Moya, E; Burgoyne, T; Chetcuti, P; Dixon, M; Hirst, R; Hogg, C; Mitchison, H; O'Callaghan, C; Onoufriadis, A; Patel, M; Rutman, A; Sheridan, E; Shoemark, A; Kunimoto, K; Yamazaki, YY; Nishida, TN; Shinohara, KS; Ishikawa, HI; Hasegawa, TH; Okanoue, TO; Hamada, HH; Noda, TN; Tamura, AT; Tsukita, ST Shoichiro; Antony, D; Becker-Heck, A; Forouhan, M; Schmidts, M; Onoufriadis, A; Shoemark, A; Dixon, M; Jackson, C; Goggin, P; Olbrich, H; O’Callaghan, C; Lucas, J; Hogg, C; Chung, EMK; Omran, H; Mitchison, HM

Cilia of a Distinctive Structure (9 + 0) in Endocrine and other Tissues

内分泌及其他组织中具有独特结构的纤毛(9+0)

Antony, Dinu; Becker-Heck, Anita; Zariwala, Maimoona A; Schmidts, Miriam; Onoufriadis, Alexandros; Forouhan, Mitra; Wilson, Robert; Taylor-Cox, Theresa; Dewar, Ann; Jackson, Claire; Goggin, Patricia; Loges, Niki T; Olbrich, Heike; Jaspers, Martine; Jorissen, Mark; Leigh, Margaret W; Wolf, Whitney E; Daniels, M Leigh Anne; Noone, Peadar G; Ferkol, Thomas W; Sagel, Scott D; Rosenfeld, Margaret; Rutman, Andrew; Dixit, Abhijit; O'Callaghan, Christopher; Lucas, Jane S; Hogg, Claire; Scambler, Peter J; Emes, Richard D; Chung, Eddie M K; Shoemark, Amelia; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Currie, A R; Wheatley, D N