Publications:

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The role of pyroptosis in inflammatory diseases.

Frontiers In Cell And Developmental Biology

Chai, Rong R; Li, Ying Y; Shui, Linna L; Ni, Longxing L; Zhang, Ansheng A

Publication Date: 2023

Variant appearance in text: NLRC4: T337S

PubMed Link: 37250902

Variant Present in the following documents:

• Main text
• fcell-11-1173235.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NLRC4: 1009A>T; Thr337Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Biomarkers in Systemic Juvenile Idiopathic Arthritis, Macrophage Activation Syndrome and Their Importance in COVID Era.

International Journal Of Molecular Sciences

Ailioaie, Laura Marinela LM; Ailioaie, Constantin C; Litscher, Gerhard G

Publication Date: 2022-10-22

Variant appearance in text: NLRC4: 1009A>T; Thr337Ser

PubMed Link: 36361547

Variant Present in the following documents:

• Main text
• ijms-23-12757.pdf

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NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Journal Of Clinical Medicine

Bardet, Juliette J; Laverdure, Noémie N; Fusaro, Mathieu M; Picard, Capucine C; Garnier, Lorna L; Viel, Sébastien S; Collardeau-Frachon, Sophie S; Guillebon, Jean-Marie De JM; Durieu, Isabelle I; Casari-Thery, Clémence C; Mortamet, Guillaume G; Laurent, Audrey A; Belot, Alexandre A

Publication Date: 2021-09-24

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 34640385

Variant Present in the following documents:

• Main text
• jcm-10-04369.pdf

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Updating the NLRC4 Inflammasome: from Bacterial Infections to Autoimmunity and Cancer.

Frontiers In Immunology

Wen, Jiexia J; Xuan, Bin B; Liu, Yang Y; Wang, Liwei L; He, Li L; Meng, Xiangcai X; Zhou, Tao T; Wang, Yimin Y

Publication Date: 2021

Variant appearance in text: NLRC4: T337S

PubMed Link: 34276697

Variant Present in the following documents:

• Main text
• fimmu-12-702527.pdf

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Cannabinoids as Key Regulators of Inflammasome Signaling: A Current Perspective.

Frontiers In Immunology

Suryavanshi, Santosh V SV; Kovalchuk, Igor I; Kovalchuk, Olga O

Publication Date: 2020

Variant appearance in text: NLRC4: T337S

PubMed Link: 33584697

Variant Present in the following documents:

• Main text
• fimmu-11-613613.pdf

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Advances in Understanding Activation and Function of the NLRC4 Inflammasome.

International Journal Of Molecular Sciences

Sundaram, Balamurugan B; Kanneganti, Thirumala-Devi TD

Publication Date: 2021-01-21

Variant appearance in text: NLRC4: 1009A>T; Thr337Ser

PubMed Link: 33494299

Variant Present in the following documents:

• Main text
• ijms-22-01048.pdf

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ATP-Binding and Hydrolysis in Inflammasome Activation.

Molecules (Basel, Switzerland)

Sandall, Christina F CF; Ziehr, Bjoern K BK; MacDonald, Justin A JA

Publication Date: 2020-10-07

Variant appearance in text: NLRC4: T337S

PubMed Link: 33036374

Variant Present in the following documents:

• Main text

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Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18.

Frontiers In Immunology

Alehashemi, Sara S; Goldbach-Mansky, Raphaela R

Publication Date: 2020

Variant appearance in text: NLRC4: T337S

PubMed Link: 32983099

Variant Present in the following documents:

• Main text
• fimmu-11-01840.pdf

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Interleukin-18 and cytotoxic impairment are independent and synergistic causes of murine virus-induced hyperinflammation.

Blood

Tsoukas, Paul P; Rapp, Emily E; Van Der Kraak, Lauren L; Weiss, Eric S ES; Dang, Vinh V; Schneider, Corinne C; Klein, Edwin E; Picarsic, Jennifer J; Salcedo, Rosalba R; Stewart, C Andrew CA; Canna, Scott W SW

Publication Date: 2020-11-05

Variant appearance in text: NLRC4: T337S

PubMed Link: 32589707

Variant Present in the following documents:

• Main text

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Intestinal IL-17R Signaling Constrains IL-18-Driven Liver Inflammation by the Regulation of Microbiome-Derived Products.

Cell Reports

Castillo-Dela Cruz, Patricia P; Wanek, Alanna G AG; Kumar, Pawan P; An, Xiaojing X; Elsegeiny, Waleed W; Horne, William W; Fitch, Adam A; Burr, Ansen H P AHP; Gopalakrishna, Kathyayini P KP; Chen, Kong K; Methé, Barbara A BA; Canna, Scott W SW; Hand, Timothy W TW; Kolls, Jay K JK

Publication Date: 2019-11-19

Variant appearance in text: NLRC4: T337S

PubMed Link: 31747600

Variant Present in the following documents:

• Main text
• nihms-1544239.pdf
• NIHMS1544239-supplement-2.pdf

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HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Raghawan, Akhouri Kishore AK; Ramaswamy, Rajashree R; Radha, Vegesna V; Swarup, Ghanshyam G

Publication Date: 2019-10-22

Variant appearance in text: NLRC4: T337S

PubMed Link: 31597739

Variant Present in the following documents:

• Main text

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Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.

The Journal Of Allergy And Clinical Immunology

Moghaddas, Fiona F; Zeng, Ping P; Zhang, Yuxia Y; Schützle, Heike H; Brenner, Sebastian S; Hofmann, Sigrun R SR; Berner, Reinhard R; Zhao, Yuanbo Y; Lu, Bingtai B; Chen, Xiaoyun X; Zhang, Li L; Cheng, Suyun S; Winkler, Stefan S; Lehmberg, Kai K; Canna, Scott W SW; Czabotar, Peter E PE; Wicks, Ian P IP; De Nardo, Dominic D; Hedrich, Christian M CM; Zeng, Huasong H; Masters, Seth L SL

Publication Date: 2018-12

Variant appearance in text: NLRC4: T337S

PubMed Link: 29778503

Variant Present in the following documents:

• Main text
• main.pdf

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Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.

International Immunology

Fusco, William G WG; Duncan, Joseph A JA

Publication Date: 2018-04-25

Variant appearance in text: NLRC4: T337S

PubMed Link: 29617808

Variant Present in the following documents:

• Main text

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Inflammasome, Inflammation, and Tissue Homeostasis.

Trends In Molecular Medicine

Rathinam, Vijay A K VAK; Chan, Francis Ka-Ming FK

Publication Date: 2018-03

Variant appearance in text: NLRC4: T337S

PubMed Link: 29433944

Variant Present in the following documents:

• Main text

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Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.

Blood

Weiss, Eric S ES; Girard-Guyonvarc'h, Charlotte C; Holzinger, Dirk D; de Jesus, Adriana A AA; Tariq, Zeshan Z; Picarsic, Jennifer J; Schiffrin, Eduardo J EJ; Foell, Dirk D; Grom, Alexei A AA; Ammann, Sandra S; Ehl, Stephan S; Hoshino, Tomoaki T; Goldbach-Mansky, Raphaela R; Gabay, Cem C; Canna, Scott W SW

Publication Date: 2018-03-29

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 29326099

Variant Present in the following documents:

• Main text

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NLRC4 inflammasomopathies.

Current Opinion In Allergy And Clinical Immunology

Romberg, Neil N; Vogel, Tiphanie P TP; Canna, Scott W SW

Publication Date: 2017-12

Variant appearance in text: NLRC4: T337S

PubMed Link: 28957823

Variant Present in the following documents:

• Main text

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Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Rheumatic Diseases Clinics Of North America

Oda, Hirotsugu H; Kastner, Daniel L DL

Publication Date: 2017-08

Variant appearance in text: NLRC4: T337S

PubMed Link: 28711137

Variant Present in the following documents:

• Main text

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: NLRC4: T337S

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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What do we know about the inflammasome in humans?

Brain Pathology (Zurich, Switzerland)

Amin, Jay J; Boche, Delphine D; Rakic, Sonja S

Publication Date: 2017-03

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 27997042

Variant Present in the following documents:

• Main text

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Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.

The Journal Of Allergy And Clinical Immunology

Canna, Scott W SW; Girard, Charlotte C; Malle, Louise L; de Jesus, Adriana A; Romberg, Neil N; Kelsen, Judith J; Surrey, Lea F LF; Russo, Pierre P; Sleight, Andrew A; Schiffrin, Eduardo E; Gabay, Cem C; Goldbach-Mansky, Raphaela R; Behrens, Edward M EM

Publication Date: 2017-05

Variant appearance in text: NLRC4: T337S

PubMed Link: 27876626

Variant Present in the following documents:

• Main text

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Genetics of inflammatory bowel disease from multifactorial to monogenic forms.

World Journal Of Gastroenterology

Bianco, Anna Monica AM; Girardelli, Martina M; Tommasini, Alberto A

Publication Date: 2015-11-21

Variant appearance in text: NLRC4: T337S

PubMed Link: 26604638

Variant Present in the following documents:

• Main text

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Inflammasomes: mechanism of action, role in disease, and therapeutics.

Nature Medicine

Guo, Haitao H; Callaway, Justin B JB; Ting, Jenny P-Y JP

Publication Date: 2015-07

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 26121197

Variant Present in the following documents:

• Main text

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Regulation of inflammasome activation.

Immunological Reviews

Man, Si Ming SM; Kanneganti, Thirumala-Devi TD

Publication Date: 2015-05

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 25879280

Variant Present in the following documents:

• Main text

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The NAIP/NLRC4 inflammasomes.

Current Opinion In Immunology

Vance, Russell E RE

Publication Date: 2015-02

Variant appearance in text: NLRC4: T337S

PubMed Link: 25621709

Variant Present in the following documents:

• Main text

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Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Nature Genetics

Romberg, Neil N; Al Moussawi, Khatoun K; Nelson-Williams, Carol C; Stiegler, Amy L AL; Loring, Erin E; Choi, Murim M; Overton, John J; Meffre, Eric E; Khokha, Mustafa K MK; Huttner, Anita J AJ; West, Brian B; Podoltsev, Nikolai A NA; Boggon, Titus J TJ; Kazmierczak, Barbara I BI; Lifton, Richard P RP

Publication Date: 2014-10

Variant appearance in text: NLRC4: Thr337Ser

PubMed Link: 25217960

Variant Present in the following documents:

• Main text
• nihms-616064.pdf

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An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Nature Genetics

Canna, Scott W SW; de Jesus, Adriana A AA; Gouni, Sushanth S; Brooks, Stephen R SR; Marrero, Bernadette B; Liu, Yin Y; DiMattia, Michael A MA; Zaal, Kristien J M KJ; Sanchez, Gina A Montealegre GA; Kim, Hanna H; Chapelle, Dawn D; Plass, Nicole N; Huang, Yan Y; Villarino, Alejandro V AV; Biancotto, Angelique A; Fleisher, Thomas A TA; Duncan, Joseph A JA; O'Shea, John J JJ; Benseler, Susanne S; Grom, Alexei A; Deng, Zuoming Z; Laxer, Ronald M RM; Goldbach-Mansky, Raphaela R

Publication Date: 2014-10

Variant appearance in text: NLRC4: 1009A>T; T337S

PubMed Link: 25217959

Variant Present in the following documents:

• nihms620985.pdf

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