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

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway

对患有自身免疫性肝炎的儿童进行全外显子组测序,发现参与 mTORC1 信号通路的基因存在突变

Gaigne, Léa-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pellé, Olivier; Schvartz, Adrien; Perin, Mélodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallée, Jean-Charles; Arkwright, Peter D; Rieux-Laucat, Frédéric; Jacquemin, Emmanuel; Magerus, Aude

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

DIAPH1 的遗传性缺陷揭示了一条由 γ-肌动蛋白调控的 DNA 双链断裂修复通路。

Beth L Woodward #,Sudipta Lahiri #,Anoop S Chauhan #,Marcos Rios Garcia,Lucy E Goodley,Thomas L Clarke,Mohinder Pal,Angelo Agathanggelou,Satpal S Jhujh,Anil N Ganesh,Fay M Hollins,Valentina Galassi Deforie,Reza Maroofian,Stephanie Efthymiou,Andrea Meinhardt,Christopher G Mathew,Michael A Simpson,Heather C Mefford,Eissa A Faqeih,Sergio D Rosenzweig,Stefano Volpi,Gigliola Di Matteo,Caterina Cancrini,Annarita Scardamaglia,Fiona Shackley,E Graham Davies,Shahnaz Ibrahim,Peter D Arkwright,Maha S Zaki,Tatjana Stankovic,A Malcolm R Taylor,Antonina J Mazur,Nataliya Di Donato,Henry Houlden,Eli Rothenberg,Grant S Stewart

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells

先天性免疫缺陷揭示了人类CD4(+)IL-9表达细胞生成和维持的分子需求

Rao, Geetha; Mack, Corinne D; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E; Wong, Melanie; Hsu, Peter; Stormon, Michael O; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A; Bezrodnik, Liliana; Nadeau, Kari C; Abolhassani, Hassan; Abraham, Roshini S; Seppänen, Mikko R J; Béziat, Vivien; Bustamante, Jacinta; Forbes Satter, Lisa R; Leiding, Jennifer W; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G; Ma, Cindy S

Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency

5例常染色体隐性RIPK1缺陷患者造血干细胞移植的结果

Walsh, Rebecca B; McNaughton, Peter; Nademi, Zohreh; Laberko, Alexandra; Balashov, Dmitry; Al-Mousa, Hamoud; Arkwright, Peter D; Wynn, Robert F; Flood, Terry; Williams, Eleri; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Slatter, Mary; Gennery, Andrew R; Lum, Su Han; Owens, Stephen

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3

两名患有 Omenn 综合征的婴儿,Janus 激酶 3 基因存在不同的亚效变体

Christo Tsilifis, Jarmila Stremenova Spegarova, Ross Good, Helen Griffin, Karin R Engelhardt, Sophie Graham, Stephen Hughes, Peter D Arkwright, Sophie Hambleton, Andrew R Gennery

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

常染色体显性遗传E47缺乏症中p.E555K显性负性变异的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

更正:p.E555K显性负性变异在常染色体显性E47缺乏症中的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party

C1q缺陷的造血干细胞移植:欧洲骨髓移植协会先天性代谢缺陷工作组的一项研究

Buso, Helena; Adam, Etai; Arkwright, Peter D; Bhattad, Sagar; Hamidieh, Amir Ali; Behfar, Maryam; Belot, Alexandre; Benezech, Sarah; Chan, Alice Y; Crow, Yanick J; Dvorak, Christopher C; Flinn, Aisling M; Kapoor, Urvi; Lankester, Arjan; Kobayashi, Masao; Matsumura, Risa; Mottaghipisheh, Hadi; Okada, Satoshi; Ouachee, Marie; Parvaneh, Nima; Ramprakash, Stalin; Satwani, Prakash; Sharafian, Samin; Triaille, Clément; Wynn, Robert F; Movahedi, Nasim; Ziaee, Vahid; Williams, Eleri; Slatter, Mary; Gennery, Andrew R