Publications:

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Play the plug: How bacteria modify recognition by host receptors?

Frontiers In Microbiology

Tiruvayipati, Suma S; Hameed, Dharjath S DS; Ahmed, Niyaz N

Publication Date: 2022

Variant appearance in text: NLRP12: R284X

PubMed Link: 36312954

Variant Present in the following documents:

• fmicb-13-960326.pdf

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: NLRP12: 850C>T; Arg284Ter

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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The innate immune receptor Nlrp12 suppresses autoimmunity to the retina.

Journal Of Neuroinflammation

Lee, Ellen J EJ; Napier, Ruth J RJ; Vance, Emily E EE; Lashley, Sydney J SJ; Truax, Agnieszka D AD; Ting, Jenny P JP; Rosenzweig, Holly L HL

Publication Date: 2022-03-21

Variant appearance in text: NLRP12: Arg284X

PubMed Link: 35313917

Variant Present in the following documents:

• Main text
• 12974_2022_Article_2425.pdf

View BVdb publication page

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NLRP12-associated systemic autoinflammatory diseases in children.

Pediatric Rheumatology Online Journal

Wang, Hui-Fang HF

Publication Date: 2022-02-05

Variant appearance in text: NLRP12: 850C>T

PubMed Link: 35123508

Variant Present in the following documents:

• Main text
• 12969_2022_Article_669.pdf

View BVdb publication page

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NLRP12-associated systemic autoinflammatory diseases in children.

Pediatric Rheumatology Online Journal

Wang, Hui-Fang HF

Publication Date: 2022-02-05

Variant appearance in text: NLRP12: 850C>T

PubMed Link: 35123508

Variant Present in the following documents:

• Main text
• 12969_2022_Article_669.pdf

View BVdb publication page

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: NLRP12: 850C>T; Arg284Ter

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Monogenic Adult-Onset Inborn Errors of Immunity.

Frontiers In Immunology

Staels, Frederik F; Collignon, Tom T; Betrains, Albrecht A; Gerbaux, Margaux M; Willemsen, Mathijs M; Humblet-Baron, Stephanie S; Liston, Adrian A; Vanderschueren, Steven S; Schrijvers, Rik R

Publication Date: 2021

Variant appearance in text: NLRP12: R284*

PubMed Link: 34867986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Frontiers In Genetics

Sharma, Parul P; Jain, Abhinav A; Scaria, Vinod V

Publication Date: 2021

Variant appearance in text: NLRP12: R284X; rs104895564

PubMed Link: 34054914

Variant Present in the following documents:

• Main text
• fgene-12-631340.pdf

View BVdb publication page

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Role of NLRs in the Regulation of Type I Interferon Signaling, Host Defense and Tolerance to Inflammation.

International Journal Of Molecular Sciences

Kienes, Ioannis I; Weidl, Tanja T; Mirza, Nora N; Chamaillard, Mathias M; Kufer, Thomas A TA

Publication Date: 2021-01-28

Variant appearance in text: NLRP12: R284X

PubMed Link: 33525590

Variant Present in the following documents:

• Main text
• ijms-22-01301.pdf

View BVdb publication page

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SARS-CoV-2 proteases PLpro and 3CLpro cleave IRF3 and critical modulators of inflammatory pathways (NLRP12 and TAB1): implications for disease presentation across species.

Emerging Microbes & Infections

Moustaqil, Mehdi M; Ollivier, Emma E; Chiu, Hsin-Ping HP; Van Tol, Sarah S; Rudolffi-Soto, Paulina P; Stevens, Christian C; Bhumkar, Akshay A; Hunter, Dominic J B DJB; Freiberg, Alexander N AN; Jacques, David D; Lee, Benhur B; Sierecki, Emma E; Gambin, Yann Y

Publication Date: 2021-12

Variant appearance in text: NLRP12: R284X

PubMed Link: 33372854

Variant Present in the following documents:

• Main text
• TEMI_10_1870414.pdf

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: NLRP12: 850C>T; Arg284*

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Journal Of Translational Autoimmunity

Marino, Achille A; Tirelli, Francesca F; Giani, Teresa T; Cimaz, Rolando R

Publication Date: 2020

Variant appearance in text: NLRP12: Arg284X

PubMed Link: 32743516

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: NLRP12: 850C>T; Arg284Ter; rs104895564

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: NLRP12: 850C>T; Arg284*; rs104895564

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Digestive Diseases And Sciences

Jacob, Noam N; Dasharathy, Sonya S SS; Bui, Viet V; Benhammou, Jihane N JN; Grody, Wayne W WW; Singh, Ram Raj RR; Pisegna, Joseph R JR

Publication Date: 2019-08

Variant appearance in text: NLRP12: 850C>T

PubMed Link: 30788684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens.

Nature Communications

Normand, Sylvain S; Waldschmitt, Nadine N; Neerincx, Andreas A; Martinez-Torres, Ruben Julio RJ; Chauvin, Camille C; Couturier-Maillard, Aurélie A; Boulard, Olivier O; Cobret, Laetitia L; Awad, Fawaz F; Huot, Ludovic L; Ribeiro-Ribeiro, Andre A; Lautz, Katja K; Ruez, Richard R; Delacre, Myriam M; Bondu, Clovis C; Guilliams, Martin M; Scott, Charlotte C; Segal, Anthony A; Amselem, Serge S; Hot, David D; Karabina, Sonia S; Bohn, Erwin E; Ryffel, Bernhard B; Poulin, Lionel F LF; Kufer, Thomas A TA; Chamaillard, Mathias M

Publication Date: 2018-12-17

Variant appearance in text: NLRP12: 850C>T; R284X

PubMed Link: 30559449

Variant Present in the following documents:

• Main text
• 41467_2018_7750_MOESM1_ESM.pdf
• 41467_2018_Article_7750.pdf
• 41467_2018_7750_MOESM4_ESM.pdf

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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: NLRP12: 850C>T

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: NLRP12: Arg284ter

PubMed Link: 27997042

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Plos One

Xia, Xiaoru X; Dai, Caijun C; Zhu, Xiaochun X; Liao, Qiumei Q; Luo, Xu X; Fu, Yangyang Y; Wang, Liangxing L

Publication Date: 2016

Variant appearance in text: NLRP12: 850C>T

PubMed Link: 27314497

Variant Present in the following documents:

• Main text
• pone.0156981.pdf

View BVdb publication page

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Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance.

Bmc Genomics

Choudhury, Ananyo A; Hazelhurst, Scott S; Meintjes, Ayton A; Achinike-Oduaran, Ovokeraye O; Aron, Shaun S; Gamieldien, Junaid J; Jalali Sefid Dashti, Mahjoubeh M; Mulder, Nicola N; Tiffin, Nicki N; Ramsay, Michèle M

Publication Date: 2014-06-06

Variant appearance in text: rs104895564

PubMed Link: 24906912

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6211.pdf

View BVdb publication page

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The expanding spectrum of rare monogenic autoinflammatory diseases.

Orphanet Journal Of Rare Diseases

Touitou, Isabelle I; Galeotti, Caroline C; Rossi-Semerano, Linda L; Hentgen, Véronique V; Piram, Maryam M; Koné-Paut, Isabelle I; ,

Publication Date: 2013-10-16

Variant appearance in text: NLRP12: 850C>T

PubMed Link: 24131530

Variant Present in the following documents:

• Main text
• 1750-1172-8-162.pdf

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: NLRP12: Arg284Ter; rs104895564

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Arthritis And Rheumatism

Borghini, S S; Tassi, S S; Chiesa, S S; Caroli, F F; Carta, S S; Caorsi, R R; Fiore, M M; Delfino, L L; Lasigliè, D D; Ferraris, C C; Traggiai, E E; Di Duca, M M; Santamaria, G G; D'Osualdo, A A; Tosca, M M; Martini, A A; Ceccherini, I I; Rubartelli, A A; Gattorno, M M

Publication Date: 2011-03

Variant appearance in text: NLRP12: Arg284X

PubMed Link: 21360512

Variant Present in the following documents:

• Main text
• art0063-0830.pdf

View BVdb publication page

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The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Cellular & Molecular Immunology

Conforti-Andreoni, Cristina C; Ricciardi-Castagnoli, Paola P; Mortellaro, Alessandra A

Publication Date: 2011-03

Variant appearance in text: NLRP12: R284X

PubMed Link: 21258359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammasomes and their activation.

Critical Reviews In Immunology

Khare, Sonal S; Luc, Nancy N; Dorfleutner, Andrea A; Stehlik, Christian C

Publication Date: 2010

Variant appearance in text: NLRP12: R284X

PubMed Link: 21083527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Journal Of Immunology (Baltimore, Md. : 1950)

Jha, Sushmita S; Ting, Jenny P-Y JP

Publication Date: 2009-12-15

Variant appearance in text: NLRP12: R284X

PubMed Link: 20007570

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in NALP12 cause hereditary periodic fever syndromes.

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

Jéru, I I; Duquesnoy, P P; Fernandes-Alnemri, T T; Cochet, E E; Yu, J W JW; Lackmy-Port-Lis, M M; Grimprel, E E; Landman-Parker, J J; Hentgen, V V; Marlin, S S; McElreavey, K K; Sarkisian, T T; Grateau, G G; Alnemri, E S ES; Amselem, S S

Publication Date: 2008-02-05

Variant appearance in text: NALP12: 850C>T

PubMed Link: 18230725

Variant Present in the following documents:

• Main text

View BVdb publication page

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