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: V341A

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: 1022T>C; Val341Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: NLRC4: 1022T>C; Val341Ala

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: NLRC4: 262+1577T>C; V341A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1022T>C; Val341Ala

PubMed Link: 34640385

Variant Present in the following documents:

• Main text
• jcm-10-04369.pdf

View BVdb publication page

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Coronavirus Disease 2019 in a Patient With a Systemic Autoinflammatory Syndrome due to an NLRC4 Inflammasomopathy.

Open Forum Infectious Diseases

Duncan-Lowey, Jeffrey K JK; Chowdhary, Vaidehi V; Dunne, Dana W DW

Publication Date: 2021-08

Variant appearance in text: NLRC4: V341A

PubMed Link: 34377730

Variant Present in the following documents:

• Main text
• ofab362.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: V341A

PubMed Link: 34276697

Variant Present in the following documents:

• Main text
• fimmu-12-702527.pdf

View BVdb publication page

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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: V341A

PubMed Link: 33584697

Variant Present in the following documents:

• Main text
• fimmu-11-613613.pdf

View BVdb publication page

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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: Val341Ala

PubMed Link: 33494299

Variant Present in the following documents:

• Main text
• ijms-22-01048.pdf

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: NLRC4: 1022T>C; Val341Ala

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: V341A

PubMed Link: 33036374

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V341A

PubMed Link: 32983099

Variant Present in the following documents:

• Main text
• fimmu-11-01840.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NLRC4: 1022T>C; Val341Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: V341A

PubMed Link: 31597739

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Insights on Inflammasomes, Gasdermin Pores, and Pyroptosis.

Cold Spring Harbor Perspectives In Biology

de Vasconcelos, Nathalia M NM; Lamkanfi, Mohamed M

Publication Date: 2020-05-01

Variant appearance in text: NLRC4: V341A

PubMed Link: 31570336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammatory caspase regulation: maintaining balance between inflammation and cell death in health and disease.

The Febs Journal

Bolívar, Beatriz E BE; Vogel, Tiphanie P TP; Bouchier-Hayes, Lisa L

Publication Date: 2019-07

Variant appearance in text: NLRC4: V341A

PubMed Link: 31090171

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: NLRC4: 1022T>C; Val341Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Frontiers In Immunology

Barsalou, Julie J; Blincoe, Annaliesse A; Fernandez, Isabel I; Dal-Soglio, Dorothée D; Marchitto, Lorie L; Selleri, Silvia S; Haddad, Elie E; Benyoucef, Aissa A; Touzot, Fabien F

Publication Date: 2018

Variant appearance in text: NLRC4: Val341Ala

PubMed Link: 30319625

Variant Present in the following documents:

• Main text
• fimmu-09-02162.pdf

View BVdb publication page

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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: V341A

PubMed Link: 29778503

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: V341A

PubMed Link: 29617808

Variant Present in the following documents:

• Main text

View BVdb publication page

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ASC- and caspase-8-dependent apoptotic pathway diverges from the NLRC4 inflammasome in macrophages.

Scientific Reports

Lee, Bettina L BL; Mirrashidi, Kathleen M KM; Stowe, Irma B IB; Kummerfeld, Sarah K SK; Watanabe, Colin C; Haley, Benjamin B; Cuellar, Trinna L TL; Reichelt, Michael M; Kayagaki, Nobuhiko N

Publication Date: 2018-02-28

Variant appearance in text: NLRC4: V341A

PubMed Link: 29491424

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21998.pdf

View BVdb publication page

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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: V341A

PubMed Link: 29433944

Variant Present in the following documents:

• Main text

View BVdb publication page

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NAIP/NLRC4 inflammasome activation in MRP8+ cells is sufficient to cause systemic inflammatory disease.

Nature Communications

Nichols, Randilea D RD; von Moltke, Jakob J; Vance, Russell E RE

Publication Date: 2017-12-20

Variant appearance in text: NLRC4: V341A

PubMed Link: 29263322

Variant Present in the following documents:

• Main text
• 41467_2017_Article_2266.pdf

View BVdb publication page

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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: V341A

PubMed Link: 28957823

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V341A

PubMed Link: 28711137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NLRC4: 1022T>C; Val341Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases.

Frontiers In Immunology

Wekell, Per P; Berg, Stefan S; Karlsson, Anna A; Fasth, Anders A

Publication Date: 2017

Variant appearance in text: NLRC4: V341A

PubMed Link: 28496446

Variant Present in the following documents:

• Main text
• fimmu-08-00497.pdf

View BVdb publication page

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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: V341A

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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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: Val341Ala

PubMed Link: 27997042

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1022T>C; Val341Ala

PubMed Link: 27876626

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V341A

PubMed Link: 26604638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newly recognized Mendelian disorders with rheumatic manifestations.

Current Opinion In Rheumatology

de Jesus, Adriana Almeida AA; Goldbach-Mansky, Raphaela R

Publication Date: 2015-09

Variant appearance in text: NLRC4: V341A

PubMed Link: 26196376

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Val341Ala

PubMed Link: 26121197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Val341Ala

PubMed Link: 25879280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Personalized biochemistry and biophysics.

Biochemistry

Kroncke, Brett M BM; Vanoye, Carlos G CG; Meiler, Jens J; George, Alfred L AL; Sanders, Charles R CR

Publication Date: 2015-04-28

Variant appearance in text: NLRC4: Val341Ala

PubMed Link: 25856502

Variant Present in the following documents:

• Main text
• bi5b00189.pdf

View BVdb publication page

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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: V341A

PubMed Link: 25621709

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V341A

PubMed Link: 25217960

Variant Present in the following documents:

• Main text
• nihms-616064.pdf

View BVdb publication page

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