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Select item 107245081.

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271

PMCID:: PMC10724508

Abstract Article PDF–1.7M

Select item 105070112.

Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children

Eman Eissa, Hanan H. Afifi, Assem M. Abo-Shanab, Manal M. Thomas, Mohamed B. Taher, Rania Kandil, Naglaa M. Kholoussi

Sci Rep. 2023; 13: 15445. Published online 2023 Sep 18. doi: 10.1038/s41598-023-42370-0

PMCID:: PMC10507011

Abstract Article PDF–1.1M

Select item 104357673.

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

Aoife Murray, Gillian Gough, Ana Cindrić, Frano Vučković, David Koschut, Vincenzo Borelli, Dražen J. Petrović, Ana Bekavac, Ante Plećaš, Valentina Hribljan, Reinhard Brunmeir, Julija Jurić, Maja Pučić-Baković, Anita Slana, Helena Deriš, Azra Frkatović, Jűrgen Groet, Niamh L. O’Brien, Hong Yu Chen, Yee Jie Yeap, Frederic Delom, Steven Havlicek, Luke Gammon, Sarah Hamburg, Carla Startin, Hana D’Souza, Dinko Mitrečić, Mijana Kero, Ljubica Odak, Božo Krušlin, Željka Krsnik, Ivica Kostović, Jia Nee Foo, Yuin-Han Loh, Norris Ray Dunn, Susana de la Luna, Tim Spector, Ingeborg Barišić, Michael S.C. Thomas, Andre Strydom, Claudio Franceschi, Gordan Lauc, Jasminka Krištić, Ivan Alić, Dean Nižetić

eBioMedicine. 2023 Aug; 94: 104692. Published online 2023 Jul 12. doi: 10.1016/j.ebiom.2023.104692

PMCID:: PMC10435767

Abstract Article PDF–4.3M

Select item 102827414.

Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders

Yiwen Pan, Guoguo Shang, Jing Li, Yuwen Zhang, Jianying Liu, Yuan Ji, Jing Ding, Xin Wang

Front Immunol. 2023; 14: 967345. Published online 2023 Jun 7. doi: 10.3389/fimmu.2023.967345

PMCID:: PMC10282741

Abstract Article PDF–2.0M

Select item 102354535.

The complement receptor C5aR2 regulates neutrophil activation and function contributing to neutrophil-driven epidermolysis bullosa acquisita

Daniel L. Seiler, Katja H. Kähler, Marie Kleingarn, Christian D. Sadik, Katja Bieber, Jörg Köhl, Ralf J. Ludwig, Christian M. Karsten

Front Immunol. 2023; 14: 1197709. Published online 2023 May 19. doi: 10.3389/fimmu.2023.1197709

PMCID:: PMC10235453

Abstract Article PDF–4.8M

Select item 95509706.

High levels of thyroid hormones promote recurrence of Graves' disease via overexpression of B‐cell‐activating factor

Shu Liu, Jing‐Jing Miao, Xiao Zhou, Qi Sun, Xiao‐Ming Mao

J Clin Lab Anal. 2022 Oct; 36(10): e24701. Published online 2022 Sep 13. doi: 10.1002/jcla.24701

PMCID:: PMC9550970

Abstract Article PDF–2.3M

Select item 93456167.

Salvianolic acid B attenuates membranous nephropathy by activating renal autophagy via microRNA-145-5p/phosphatidylinositol 3-kinase/AKT pathway

Junqi Chen, Qinghong Hu, Yini Luo, Lina Luo, Hua Lin, Dandan Chen, Yuan Xu, Bihao Liu, Yu He, Chunling Liang, Yaoyu Liu, Jiuyao Zhou, Junbiao Wu

Bioengineered. 2022; 13(5): 13956–13969. Published online 2022 Jun 19. doi: 10.1080/21655979.2022.2083822

PMCID:: PMC9345616

Abstract Article PDF–5.4M

Select item 92878588.

Increased levels of a pro-inflammatory IgG receptor in the midbrain of people with schizophrenia

A. Petty, L. J. Glass, D. A. Rothmond, T. Purves-Tyson, A. Sweeney, Y. Kondo, S. Kubo, M. Matsumoto, C. Shannon Weickert

J Neuroinflammation. 2022; 19: 188. Published online 2022 Jul 15. doi: 10.1186/s12974-022-02541-8

PMCID:: PMC9287858

Abstract Article PDF–4.3M

Select item 87920469.

Circulating Interleukin-6 and CD16 positive monocytes increase following angioplasty of an arteriovenous fistula

Seran Hakki, Emily J. Robinson, Michael G. Robson

Sci Rep. 2022; 12: 1427. Published online 2022 Jan 26. doi: 10.1038/s41598-022-05062-9

Correction in:: Sci Rep. 2022; 12: 18320.

Correction in:: Sci Rep. 2023; 13: 18378.

PMCID:: PMC8792046

Abstract Article PDF–2.1M

Select item 868530310.

Sperm quality and absence of SARS-CoV-2 RNA in semen after COVID-19 infection: a prospective, observational study and validation of the SpermCOVID test

Gilbert G.G. Donders, Eugene Bosmans, Jente Reumers, Francesca Donders, Jef Jonckheere, Geert Salembier, Nora Stern, Yves Jacquemyn, Willem Ombelet, Christophe E. Depuydt

Fertil Steril. 2022 Feb; 117(2): 287–296. Published online 2021 Dec 20. doi: 10.1016/j.fertnstert.2021.10.022

PMCID:: PMC8685303

Abstract Article PDF–311K

Select item 842153911.

Biomarkers and Immune Repertoire Metrics Identified by Peripheral Blood Transcriptomic Sequencing Reveal the Pathogenesis of COVID-19

Yang Liu, Yankang Wu, Bing Liu, Youpeng Zhang, Dan San, Yu Chen, Yu Zhou, Long Yu, Haihong Zeng, Yun Zhou, Fuxiang Zhou, Heng Yang, Lei Yin, Yafei Huang

Front Immunol. 2021; 12: 677025. Published online 2021 Aug 24. doi: 10.3389/fimmu.2021.677025

PMCID:: PMC8421539

Abstract Article PDF–5.9M

Select item 829352212.

Differential long non-coding RNA expression profile and function analysis in primary Sjogren’s syndrome

Xiaochan Chen, Qi Cheng, Yan Du, Lei Liu, Huaxiang Wu

BMC Immunol. 2021; 22: 47. Published online 2021 Jul 20. doi: 10.1186/s12865-021-00439-3

PMCID:: PMC8293522

Abstract Article PDF–2.3M

Select item 793844313.

Clinical and Prognostic Value of Immunogenetic Characteristics in Anti-LGI1 Encephalitis

Sergio Muñiz-Castrillo, Julie Haesebaert, Laure Thomas, Alberto Vogrig, Anne-Laurie Pinto, Géraldine Picard, Charlotte Blanc, Le-Duy Do, Bastien Joubert, Giulia Berzero, Dimitri Psimaras, Agusti Alentorn, Véronique Rogemond, Valérie Dubois, Aditya Ambati, Ryad Tamouza, Emmanuel Mignot, Jérôme Honnorat

Neurol Neuroimmunol Neuroinflamm. 2021 May; 8(3): e974. Published online 2021 Mar 5. doi: 10.1212/NXI.0000000000000974

PMCID:: PMC7938443

Abstract Article PDF–434K

Select item 786391314.

Complement activity is regulated in C3 glomerulopathy by IgG–factor H fusion proteins with and without properdin targeting domains

Alyssa C. Gilmore, Yuchun Zhang, H. Terence Cook, Deborah P. Lavin, Suresh Katti, Yi Wang, Krista K. Johnson, SungKwon Kim, Matthew C. Pickering

Kidney Int. 2021 Feb; 99(2): 396–404. doi: 10.1016/j.kint.2020.09.028

PMCID:: PMC7863913

Abstract Article PDF–819K

Select item 758917615.

Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation

Agnes L. Hipgrave Ederveen, Noortje de Haan, Melissa Baerenfaenger, Dirk J. Lefeber, Manfred Wuhrer

Int J Mol Sci. 2020 Oct; 21(20): 7635. Published online 2020 Oct 15. doi: 10.3390/ijms21207635

PMCID:: PMC7589176

Abstract Article PDF–2.4M

Select item 726903616.

IFITM3 affects the level of antibody response after influenza vaccination

Na Lei, Yan Li, Qiang Sun, Jian Lu, Jianfang Zhou, Zi Li, Liqi Liu, Junfeng Guo, Kun Qin, Haibin Wang, Jianhong Zhao, Chong Li, Lingli Sun, Dayan Wang, Zhendong Zhao, Yuelong Shu

Emerg Microbes Infect. 2020; 9(1): 976–987. Published online 2020 May 18. doi: 10.1080/22221751.2020.1756696

PMCID:: PMC7269036

Abstract Article PDF–3.2M

Select item 710186017.

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Marc Kaiser, Aglaia Vignoli, Rainer Rossi, Maria Pilar Botella, Magdalena Budisteanu, Monica Rosello, Carmen Orellana, Maria Isabel Tejada, Sorina Mihaela Papuc, Oliver Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, Kirsten Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela-Stanek, Ludwig Gortner, Francisco Martinez, Bernard Echenne, Volker Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth

J Clin Immunol. 2015; 35(2): 168–181. Published online 2015 Feb 27. doi: 10.1007/s10875-015-0129-5

PMCID:: PMC7101860

Abstract Article PDF–1.4M

Select item 699648818.

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy

Mette Christiansen, Rasmus Offersen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Carsten S. Larsen, Trine H. Mogensen

Front Immunol. 2019; 10: 3022. Published online 2020 Jan 27. doi: 10.3389/fimmu.2019.03022

PMCID:: PMC6996488

Abstract Article PDF–579K

Select item 690989319.

Hydroxychloroquine treatment downregulates systemic interferon activation in primary Sjögren’s syndrome in the JOQUER randomized trial

Iris L A Bodewes, Jacques-Eric Gottenberg, Cornelia G van Helden-Meeuwsen, Xavier Mariette, Marjan A Versnel

Rheumatology (Oxford) 2020 Jan; 59(1): 107–111. Published online 2019 Jun 25. doi: 10.1093/rheumatology/kez242

PMCID:: PMC6909893

Abstract Article PDF–126K

Select item 682064920.

Atypical reduction of plasma ADAMTS13 activity by a non-IgG-type inhibitor in a patient with hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli

Shinya Nakayama, Shuma Hirashio, Haruka Yorishima, Toshiki Doi, Yoko Yoshida, Masanori Matsumoto, Takao Masaki

CEN Case Rep. 2019 Nov; 8(4): 266–270. Published online 2019 Jun 8. doi: 10.1007/s13730-019-00405-4

PMCID:: PMC6820649

Abstract Article PDF–657K

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