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

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

AICDA 中的一种新型杂合变异会损害人类 B 细胞中的免疫球蛋白类别转换和体细胞超突变,并与常染色体显性 HIGM2 综合征有关

Erika Della Mina, Katherine J L Jackson, Alexander J I Crawford, Megan L Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O'Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J D'Orsogna #, Cindy S Ma #, Stua

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

西波利尼西亚一例 IFNAR1 缺乏症病例确定了 DOCK8 中常见的典型剪接位点变异:在代表性不足的祖先中验证意义不明的变异的重要性

Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Geetha Rao, Karrnan Pathmanandavel, Erika Della Mina, Georgina Hollway, Matthew Hobbs, Karen Enthoven, Patrick O'Young, Sam McManus, Luke H Wainwright, Megan Higgins, Fallon Noon, Melanie Wong, Paul Bastard, Qian Zhang, Jean-Lau

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

更正:西波利尼西亚一例新型 IFNAR1 缺陷病例揭示 DOCK8 中常见的典型剪接位点变异:验证代表性不足的祖先中意义不明的变异的重要性

Huynh, Aimee; E Gray, Paul; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; H Wainwright, Luke; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; S Ma, Cindy; G Tangye, Stuart

Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

在RANKL刺激的骨吸收过程中,破骨细胞通过成骨细胞进行再利用。

Michelle M McDonald ,Weng Hua Khoo ,Pei Ying Ng ,Ya Xiao ,Jad Zamerli ,Peter Thatcher ,Wunna Kyaw ,Karrnan Pathmanandavel ,Abigail K Grootveld ,Imogen Moran ,Danyal Butt ,Akira Nguyen ,Alexander Corr ,Sean Warren ,Maté Biro ,Natalie C Butterfield ,Siobhan E Guilfoyle ,Davide Komla-Ebri ,Michael R G Dack ,Hannah F Dewhurst ,John G Logan ,Yongxiao Li ,Sindhu T Mohanty ,Niall Byrne ,Rachael L Terry ,Marija K Simic ,Ryan Chai ,Julian M W Quinn ,Scott E Youlten ,Jessica A Pettitt ,David Abi-Hanna ,Rohit Jain ,Wolfgang Weninger ,Mischa Lundberg ,Shuting Sun ,Frank H Ebetino ,Paul Timpson ,Woei Ming Lee ,Paul A Baldock ,Michael J Rogers ,Robert Brink ,Graham R Williams ,J H Duncan Bassett ,John P Kemp ,Nathan J Pavlos ,Peter I Croucher ,Tri Giang Phan

Benign COVID-19 in an aggressive case of aquaporin-4 Neuromyelitis optica treated with tocilizumab

一例伴有水通道蛋白4感染的侵袭性视神经脊髓炎的良性COVID-19病例,采用托珠单抗治疗

Ramanathan, Sudarshini; Reddel, Stephen W; Henderson, Andrew; Parratt, John D E; Barnett, Michael; Gatt, Prudence N; Merheb, Vera; Kumaran, Raani-Yogeeta Anusuiya; Pathmanandavel, Karrnan; Sinmaz, Nese; Ghadiri, Mahtab; Yiannikas, Con; Vucic, Steve; Stewart, Graeme; Bleasel, Andrew F; Booth, David; Fung, Victor S C; Dale, Russell C; Brilot, Fabienne; Vecchio, Domizia; Solaro, Claudio; Virgilio, Eleonora; Naldi, Paola; Capobianco, Marco; Cantello, Roberto

Antibodies to MOG have a demyelination phenotype and affect oligodendrocyte cytoskeleton

抗MOG抗体具有脱髓鞘表型,并影响少突胶质细胞骨架。

Dale, Russell C; Tantsis, Esther M; Merheb, Vera; Kumaran, Raani-Yogeeta A; Sinmaz, Nese; Pathmanandavel, Karrnan; Ramanathan, Sudarshini; Booth, David R; Wienholt, Louise A; Prelog, Kristina; Clark, Damien R; Guillemin, Gilles J; Lim, Chai K; Mathey, Emily K; Brilot, Fabienne