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Select item 105435741.

STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure

Antonio Giovanni Solimando, Vanessa Desantis, Carmen Palumbo, Carolina Marasco, Fabrizio Pappagallo, Monica Montagnani, Giuseppe Ingravallo, Sebastiano Cicco, Rosa Di Paola, Paula Tabares, Andreas Beilhack, Franco Dammacco, Roberto Ria, Angelo Vacca

Clin Exp Med. 2023; 23(6): 2687–2694. Published online 2023 Feb 24. doi: 10.1007/s10238-023-01017-0

PMCID:: PMC10543574

Abstract Article PDF–1.0M

Select item 104997472.

Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition

Zuzana Parackova, Petra Vrabcova, Irena Zentsova, Anna Sediva, Marketa Bloomfield

J Clin Immunol. 2023; 43(7): 1640–1659. Published online 2023 Jun 26. doi: 10.1007/s10875-023-01528-1

PMCID:: PMC10499747

Abstract Article PDF–4.6M

Select item 103867673.

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection

Leonore Greybe, Daniel Leung, Nicole Wieselthaler, David M le Roux, Koon Wing Chan, Yu Lung Lau, Brian Eley

BMC Pediatr. 2023; 23: 378. Published online 2023 Jul 29. doi: 10.1186/s12887-023-04206-8

PMCID:: PMC10386767

Abstract Article PDF–2.0M

Select item 101281674.

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Takaki Asano, Takanori Utsumi, Reiko Kagawa, Shuhei Karakawa, Satoshi Okada

Clin Exp Immunol. 2023 May; 212(2): 96–106. Published online 2022 Nov 24. doi: 10.1093/cei/uxac106

PMCID:: PMC10128167

Abstract Article PDF–1.9M

Select item 101281605.

Practical challenges for functional validation of STAT1 gain of function genetic variants

Adriana S Albuquerque, Jesmeen Maimaris, Alexander J McKenna, Jonathan Lambourne, Fernando Moreira, Sarita Workman, Karyn Megy, Ilenia Simeoni, Hana Lango Allen, NIHR BioResource-Rare Disease Consortium , Emma C Morris, Siobhan O Burns

Clin Exp Immunol. 2023 May; 212(2): 166–169. Published online 2023 Feb 1. doi: 10.1093/cei/uxad008

PMCID:: PMC10128160

Article PDF–214K

Select item 100675566.

Case report: Myocarditis in congenital STAT1 gain-of function

Frederik Staels, Willem Roosens, Simone Giovannozzi, Leen Moens, Jan Bogaert, Cecilia Iglesias-Herrero, Rik Gijsbers, Xavier Bossuyt, Glynis Frans, Adrian Liston, Stephanie Humblet-Baron, Isabelle Meyts, Lucas Van Aelst, Rik Schrijvers

Front Immunol. 2023; 14: 1095595. Published online 2023 Mar 20. doi: 10.3389/fimmu.2023.1095595

PMCID:: PMC10067556

Abstract Article PDF–11M

Select item 99724597.

Phosphorylated signal transducer and activator of transcription proteins 1 in salivary glandular tissue: an important histological marker for diagnosis of primary Sjögren’s syndrome

Qing Zheng, Lingyu Liu, Bin Wang, Yan He, Mengqin Zhang, Guixiu Shi

RMD Open. 2023; 9(1): e002694. Published online 2023 Feb 23. doi: 10.1136/rmdopen-2022-002694

PMCID:: PMC9972459

Abstract Article PDF–15M

Select item 98405968.

Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors

Emilie W. Borgström, Marie Edvinsson, Lucía P. Pérez, Anna C. Norlin, Sara L. Enoksson, Susanne Hansen, Anders Fasth, Vanda Friman, Olle Kämpe, Robert Månsson, Hernando Y. Estupiñán, Qing Wang, Tan Ziyang, Tadepally Lakshmikanth, Carl Inge E. Smith, Petter Brodin, Peter Bergman

J Clin Immunol. 2023; 43(1): 136–150. Published online 2022 Sep 2. doi: 10.1007/s10875-022-01351-0

PMCID:: PMC9840596

Abstract Article PDF–1.7M

Select item 98350549.

Role of SUMOylation of STAT1 in tubular epithelial-mesenchymal transition induced by high glucose

Cunyang Gu, Feng Gao, Shiqi Zhang, Lihua Kang, Wei Zhang, Xiaojuan Feng, Jinxi Liu, Yuexin Tian, Qun Wei, Yunxia Du, Yujia Xing, Qingjuan Liu, Shuxia Liu

Mol Med Rep. 2023 Feb; 27(2): 42. Published online 2023 Jan 2. doi: 10.3892/mmr.2023.12929

PMCID:: PMC9835054

Abstract Article PDF–6.9M

Select item 962357310.

Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1

Saara Kaviany, Todd Bartkowiak, Daniel E. Dulek, Yasmin W. Khan, Madeline J. Hayes, Samuel G. Schaefer, Xiang Ye, Debolanle O. Dahunsi, James A. Connelly, Jonathan M. Irish, Jeffrey C. Rathmell

Immunohorizons. Author manuscript; available in PMC 2023 Jul 15.

Published in final edited form as: Immunohorizons. 2022 Jul 15; 6(7): 447–464. Published online 2022 Jul 15. doi: 10.4049/immunohorizons.2200041

PMCID:: PMC9623573

Abstract Article PDF–3.5M

Select item 951098711.

Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis

Marketa Bloomfield, Irena Zentsova, Tomas Milota, Anna Sediva, Zuzana Parackova

Front Immunol. 2022; 13: 983977. Published online 2022 Sep 12. doi: 10.3389/fimmu.2022.983977

PMCID:: PMC9510987

Abstract Article PDF–8.1M

Select item 870244212.

Genetic, immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiency

Tom Le Voyer, Sakata Sonoko, Miyuki Tsumura, Taushif Khan, Ana Esteve-Sole, Bandar K Al Saud, Hatice Eke Gungor, Prasad Taur, Valentine Jeanne-Julien, Mette Christiansen, Lisa-Maria Köhler, Gehad Eltayeb ElGhazali, Jérémie Rosain, Nishimura Shiho, Sakura Fumiaki, Mathieu Bouaziz, Carmen Oleaga-Quintas, Alejandro Nieto-Patlán, Àngela Deyà-Martinez, Yasemin Altuner Torun, Anna-Lena Neehus, Manon Roynard, Sefika Elmas Bozdemir, Nawal Al Kaabi, Moza Al Hassani, Irina Mersiyanova, Flore Rozenberg, Carsten Speckmann, Ina Hainmann, Fabian Hauck, Mohammed Alzahrani, Sami Hussain Alhajjar, Saleh Al Musen, Theresa Cole, Ramsay Fuleihan, Peter D. Arkwright, Raffaele Badolato, Laia Alsina, Laurent Abel, Mukesh Desai, Hamoud Al-Mousa, Anna Shcherbina, Nico Marr, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Satoshi Okada, Jacinta Bustamante

J Immunol. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: J Immunol. 2021 Jul 1; 207(1): 133–152. Published online 2021 Jun 28. doi: 10.4049/jimmunol.2001451

PMCID:: PMC8702442

Abstract Article PDF–2.3M

Select item 864680113.

Altered increase in STAT1 expression and phosphorylation in severe COVID‐19

Hector Rincon‐Arevalo, Arman Aue, Jacob Ritter, Franziska Szelinski, Dmytro Khadzhynov, Daniel Zickler, Luisa Stefanski, Andreia C. Lino, Sixten Körper, Kai‐Uwe Eckardt, Hubert Schrezenmeier, Thomas Dörner, Eva V. Schrezenmeier

Eur J Immunol. 2022 Jan; 52(1): 138–148. Published online 2021 Nov 17. doi: 10.1002/eji.202149575

PMCID:: PMC8646801

Abstract Article PDF–2.1M

Select item 859273314.

STAT1-Induced Upregulation lncRNA LINC00958 Accelerates the Epithelial Ovarian Cancer Tumorigenesis by Regulating Wnt/β-Catenin Signaling

Min Xie, Qi Fu, Pin-pin Wang, Yu-lan Cui

Dis Markers. 2021; 2021: 1405045. Published online 2021 Nov 8. doi: 10.1155/2021/1405045

PMCID:: PMC8592733

Abstract Article PDF–1.3M

Select item 856178815.

Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type I interferonopathy

Satoshi Okada, Takaki Asano, Kunihiko Moriya, Stephanie Boisson-Dupuis, Masao Kobayashi, Jean-Laurent Casanova, Anne Puel

J Clin Immunol. Author manuscript; available in PMC 2021 Nov 2.

Published in final edited form as: J Clin Immunol. 2020 Nov; 40(8): 1065–1081. Published online 2020 Aug 27. doi: 10.1007/s10875-020-00847-x

PMCID:: PMC8561788

Abstract Article PDF–671K

Select item 855710516.

Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients

Marketa Bloomfield, Zuzana Parackova, Jana Hanzlikova, Jan Lastovicka, Anna Sediva

J Clin Immunol. 2022; 42(2): 266–269. Published online 2021 Oct 31. doi: 10.1007/s10875-021-01163-8

PMCID:: PMC8557105

Article PDF–589K

Select item 851575417.

STAT1: a novel candidate biomarker and potential therapeutic target of the recurrent aphthous stomatitis

Mingchen Cao, Lei Li, Long Xu, Mengxiang Fang, Xiaomin Xing, Changkai Zhou, Wei Ren, Longyuan Wang, Fanbo Jing

BMC Oral Health. 2021; 21: 524. Published online 2021 Oct 14. doi: 10.1186/s12903-021-01776-w

PMCID:: PMC8515754

Abstract Article PDF–6.6M

Select item 844641418.

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function

Oded Shamriz, Atar Lev, Amos J Simon, Ortal Barel, Elisheva Javasky, Sigal Matza‐Porges, Adir Shaulov, Zev Davidovics, Ori Toker, Raz Somech, Abraham Zlotogorski, Vered Molho‐Pessach, Yuval Tal

Clin Exp Immunol. 2021 Oct; 206(1): 56–67. Published online 2021 Jul 12. doi: 10.1111/cei.13636

PMCID:: PMC8446414

Abstract Article PDF–711K

Select item 837493719.

Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation

Kuang Chen, Junfeng Tan, Shenxian Qian, Shenghai Wu, Qiong Chen

Front Immunol. 2021; 12: 682350. Published online 2021 Aug 5. doi: 10.3389/fimmu.2021.682350

PMCID:: PMC8374937

Abstract Article PDF–718K

Select item 799108320.

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review

Wenjing Zhang, Xuemei Chen, Guodong Gao, Shubin Xing, Lina Zhou, Xuemei Tang, Xiaodong Zhao, Yunfei An

Front Immunol. 2021; 12: 654406. Published online 2021 Mar 11. doi: 10.3389/fimmu.2021.654406

PMCID:: PMC7991083

Abstract Article PDF–2.3M

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