Roux-Buisson相关文献与解析，生知库 | 链接生命科学的每一步

Suzuki, Takanori; Lesurf, Robert; Akilen, Rajadurai; Xu, Xiaoqiao; Batke, Eva Maria; Rao, Vinay J; Jobling, Rebekah; Zahavich, Laura; Henden, Natasha; Ingles, Jodie; Torres, Edgardo Alania; Hirono, Keiichi; Roux-Buisson, Nathalie; Dhandapany, Perundurai S; Sandmann, Christoph; Mital, Seema

心血管

心肌病

发表日期：2025

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Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

约旦慢性肉芽肿病第二次报告：来自 21 个不同家庭（包括来自利比亚和伊拉克的家庭）的 31 名患者的临床和遗传描述

期刊:Frontiers in Immunology

影响因子:5.7

doi:10.3389/fimmu.2021.639226

Faris Ghalib Bakri, Michelle Mollin, Sylvain Beaumel, Bénédicte Vigne, Nathalie Roux-Buisson, Adel Mohammed Al-Wahadneh, Raed Mohammed Alzyoud, Wail Ahmad Hayajneh, Ammar Khaled Daoud, Mohammed Elian Abu Shukair, Mansour Fuad Karadshe, Mahmoud Mohammad Sarhan, Jamal Ahmad Wadi Al-Ramahi, Julien Faur

信号转导

发表日期：2021

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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB

16 名患有慢性肉芽肿病变异型的患者的临床、功能和遗传特征 - CYBB 中 11 个新突变的鉴定

期刊:Clinical and Experimental Immunology

影响因子:3.4

doi:10.1111/cei.13520

M Mollin, S Beaumel, B Vigne, J Brault, N Roux-Buisson, J Rendu, V Barlogis, G Catho, C Dumeril, F Fouyssac, D Monnier, V Gandemer, M Revest, J-P Brion, C Bost-Bru, E Jeziorski, L Eitenschenck, C Jarrasse, S Drillon Haus, M Houachée-Chardin, M Hancart, G Michel, Y Bertrand, D Plantaz, J Kelecic, R T

信号转导

发表日期：2021

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A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

螺旋结构域 2 中的 2 型瑞安尼丁受体变体与肾上腺素能反应受损有关

期刊:Journal of Personalized Medicine

影响因子:3

doi:10.3390/jpm11060579

Malorie Blancard, Zahia Touat-Hamici, Yuriana Aguilar-Sanchez, Liheng Yin, Guy Vaksmann, Nathalie Roux-Buisson, Véronique Fressart, Isabelle Denjoy, Didier Klug, Nathalie Neyroud, Josefina Ramos-Franco, Ana Maria Gomez, Pascale Guicheney

信号转导

发表日期：2021

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

非典型安德森-塔维尔综合征中KCNJ2功能丧失突变的特征分析

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2021.773177

Le Tanno Pauline, Folacci Mathilde, Revilloud Jean, Faivre Laurence, Laurent Gabriel, Pinson Lucile, Amedro Pascal, Millat Gilles, Janin Alexandre, Vivaudou Michel, Roux-Buisson Nathalie, FaurÃ© Julien

其它

发表日期：2021

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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser

幼童猝死后植入心脏复律除颤器的挑战性适应症：由新生钙调蛋白p.Asn98Ser突变引起的儿茶酚胺能多形性室性心动过速病例系列研究

期刊:European Heart Journal - Case Reports

影响因子:0.8

doi:10.1093/ehjcr/ytab393

Maltret, Alice; Benaich, Fatima Azzahrae; Rendu, John; Fressart, Véronique; Roux-Buisson, Nathalie; Bonnet, Damien; Denjoy, Isabelle

发表日期：2021

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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

三聚体和钙调蛋白在小鼠 CPVT 发病机制中的相互作用

期刊:Molecular Therapy

影响因子:12.1

doi:10.1016/j.ymthe.2019.09.012

Marine Cacheux, Jérémy Fauconnier, Jérôme Thireau, Alexis Osseni, Jacques Brocard, Nathalie Roux-Buisson, Julie Brocard, Julien Fauré, Alain Lacampagne, Isabelle Marty

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy

外显子跳跃作为一种治疗策略，应用于伴有假外显子插入的RYR1突变，该突变导致严重的核心肌病。

期刊:Human Gene Therapy

影响因子:4

doi:10.1089/hum.2013.052

Rendu, John; Brocard, Julie; Denarier, Eric; Monnier, Nicole; Piétri-Rouxel, France; Beley, Cyriaque; Roux-Buisson, Nathalie; Gilbert-Dussardier, Brigitte; Perez, Marie José; Romero, Norma; Garcia, Luis; Lunardi, Joël; Fauré, Julien; Fourest-Lieuvin, Anne; Marty, Isabelle

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

三联蛋白（一种钙释放复合物蛋白）的缺失是导致人类心律失常和猝死的原因。

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/dds104

Roux-Buisson, Nathalie; Cacheux, Marine; Fourest-Lieuvin, Anne; Fauconnier, Jeremy; Brocard, Julie; Denjoy, Isabelle; Durand, Philippe; Guicheney, Pascale; Kyndt, Florence; Leenhardt, Antoine; Le Marec, Hervé; Lucet, Vincent; Mabo, Philippe; Probst, Vincent; Monnier, Nicole; Ray, Pierre F; Santoni, Elodie; Trémeaux, Pauline; Lacampagne, Alain; Fauré, Julien; Lunardi, Joël; Marty, Isabelle

发表日期：2012

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Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease

MPZ基因中一种新的显性剪接变异与一种罕见的夏科-马里-图斯病相关

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy

对儿童心肌病遗传变异重新解读的收益

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

约旦慢性肉芽肿病第二次报告：来自 21 个不同家庭（包括来自利比亚和伊拉克的家庭）的 31 名患者的临床和遗传描述

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB

16 名患有慢性肉芽肿病变异型的患者的临床、功能和遗传特征 - CYBB 中 11 个新突变的鉴定

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

螺旋结构域 2 中的 2 型瑞安尼丁受体变体与肾上腺素能反应受损有关

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

非典型安德森-塔维尔综合征中KCNJ2功能丧失突变的特征分析

Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser

幼童猝死后植入心脏复律除颤器的挑战性适应症：由新生钙调蛋白p.Asn98Ser突变引起的儿茶酚胺能多形性室性心动过速病例系列研究

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

三聚体和钙调蛋白在小鼠 CPVT 发病机制中的相互作用

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy

外显子跳跃作为一种治疗策略，应用于伴有假外显子插入的RYR1突变，该突变导致严重的核心肌病。

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

三联蛋白（一种钙释放复合物蛋白）的缺失是导致人类心律失常和猝死的原因。