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

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.

iSH2 结构域中的体细胞 PIK3R1 突变可被 PI3Kα 抑制剂治疗

Morin Gabriel, Garneau Alexandre P, Bouzakher Nabiha, Ségot Louise, Fraissenon Antoine, Blondel Amélie, Petit Florence, Chopinet Caroline, Mayeux Franck, Fayoux Pierre, Dompmartin Anne, Bodemer Christine, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Legendre Christophe, Broissand Christine, Fraitag Sylvie, Quelin Chloé, Goudin Nicolas, Guibaud Laurent, Canaud Guillaume

Unique presentation of a novel gain-of-function mutation in MTOR

MTOR中一种新型功能获得性突变的独特表现

Slimani, Samira; Gagnon, Alex G I; Schreiber, Simon V; Bergeron, Nicolas A D; Haydock, Ludwig; Labonté, Sébastien; Huot, Marc-Étienne; Garneau, Alexandre P; Canaud, Guillaume; Isenring, Paul

X-linked Alport syndrome presenting in mother and son with the same unique histopathological features

母子二人均患有X连锁阿尔波特综合征,且具有相同的独特组织病理学特征。

Bergeron, Nicolas A D; Garneau, Alexandre P; Rousseau-Gagnon, Mathieu; Riopel, Julie; Isenring, Paul

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications

RMND1相关疾病的临床表现谱不断扩大,而基于表型的分类存在局限性

Rioux, Alexis V; Bergeron, Nicolas Ad; Riopel, Julie; Marcoux, Nicolas; Thériault, Catherine; Gould, Peter V; Garneau, Alexandre P; Isenring, Paul

Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy

经活检证实的成人起病型溶血性尿毒综合征和C3肾小球病中的基因异常

Haydock, Ludwig; Garneau, Alexandre P; Tremblay, Laurence; Yen, Hai-Yun; Gao, Hanlin; Harrisson, Raphaël; Isenring, Paul

Molecular mechanisms, physiological roles, and therapeutic implications of ion fluxes in bone cells: Emphasis on the cation-Cl(-) cotransporters

骨细胞中离子流的分子机制、生理作用和治疗意义:重点关注阳离子-Cl(-)共转运蛋白

Garneau, Alexandre P; Slimani, Samira; Haydock, Ludwig; Nsimba-Batomene, Thy-René; Préfontaine, Florence C M; Lavoie, Mathilde M; Tremblay, Laurence E; Fiola, Marie-Jeanne; Mac-Way, Fabrice; Isenring, Paul

Correction: Shedding a new light on Huntington's disease: how blood can both propagate and ameliorate disease pathology

更正:揭示亨廷顿舞蹈症的新视角:血液如何既能传播又能缓解疾病病理

Rieux, Marie; Alpaugh, Melanie; Sciacca, Giacomo; Saint-Pierre, Martine; Masnata, Maria; Denis, Hélèna L; Lévesque, Sébastien A; Herrmann, Frank; Bazenet, Chantal; Garneau, Alexandre P; Isenring, Paul; Truant, Ray; Oueslati, Abid; Gould, Peter V; Ast, Anne; Wanker, Erich E; Lacroix, Steve; Cicchetti, Francesca

Molecular characteristics and physiological roles of Na(+) -K(+) -Cl(-) cotransporter 2

Na(+) -K(+) -Cl(-) 共转运蛋白 2 的分子特征和生理功能

Marcoux, Andree-Anne; Tremblay, Laurence E; Slimani, Samira; Fiola, Marie-Jeanne; Mac-Way, Fabrice; Garneau, Alexandre P; Isenring, Paul

Progressive renal failure complicated by transient and recurrent ureteral obstruction

进行性肾功能衰竭,并伴有短暂性和复发性输尿管梗阻

Garneau, Alexandre P; de Cotret, Paul René; Tesolin, Maude; Isenring, Paul

Ablation of Potassium-Chloride Cotransporter Type 3 (Kcc3) in Mouse Causes Multiple Cardiovascular Defects and Isosmotic Polyuria

小鼠体内钾-氯共转运蛋白3型(Kcc3)的缺失会导致多种心血管缺陷和等渗性多尿

Garneau, Alexandre P; Marcoux, Andrée-Anne; Noël, Micheline; Frenette-Cotton, Rachelle; Drolet, Marie-Claude; Couet, Jacques; Larivière, Richard; Isenring, Paul