Publications:

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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: Arg352Cys

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: 1054C>T

PubMed Link: 35123508

Variant Present in the following documents:

• 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: 1054C>T

PubMed Link: 35123508

Variant Present in the following documents:

• 12969_2022_Article_669.pdf

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: NLRP12: 1054C>T; R352C; rs199881207

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_Article_268.pdf
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: NLRP12: 1054C>T; R352C; rs199881207

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_Article_268.pdf
• 43141_2021_268_MOESM2_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: R352C

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: R352C; rs199881207

PubMed Link: 34054914

Variant Present in the following documents:

• Main text
• fgene-12-631340.pdf

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: NLRP12: Arg352Cys

PubMed Link: 33036374

Variant Present in the following documents:

• Main text
• molecules-25-04572.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: NLRP12: 1054C>T; Arg352Cys; rs199881207

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.

Plos Genetics

Vilariño-Güell, Carles C; Zimprich, Alexander A; Martinelli-Boneschi, Filippo F; Herculano, Bruno B; Wang, Zhe Z; Matesanz, Fuencisla F; Urcelay, Elena E; Vandenbroeck, Koen K; Leyva, Laura L; Gris, Denis D; Massaad, Charbel C; Quandt, Jacqueline A JA; Traboulsee, Anthony L AL; Encarnacion, Mary M; Bernales, Cecily Q CQ; Follett, Jordan J; Yee, Irene M IM; Criscuoli, Maria G MG; Deutschländer, Angela A; Reinthaler, Eva M EM; Zrzavy, Tobias T; Mascia, Elisabetta E; Zauli, Andrea A; Esposito, Federica F; Alcina, Antonio A; Izquierdo, Guillermo G; Espino-Paisán, Laura L; Mena, Jorge J; Antigüedad, Alfredo A; Urbaneja-Romero, Patricia P; Ortega-Pinazo, Jesús J; Song, Weihong W; Sadovnick, A Dessa AD

Publication Date: 2019-06

Variant appearance in text: NLRP12: 1054C>T; Arg352Cys; rs199881207

PubMed Link: 31170158

Variant Present in the following documents:

• Main text
• pgen.1008180.pdf
• pgen.1008180.s002.pdf

View BVdb publication page

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Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.

Mediterranean Journal Of Hematology And Infectious Diseases

Ghosh, Kanjaksha K; Mishra, Kanchan K; Shah, Avani A; Patel, Parizad P; Shetty, Shrimati S

Publication Date: 2019

Variant appearance in text: NLRP12: R352C

PubMed Link: 30858956

Variant Present in the following documents:

• Main text
• mjhid-11-1-e2019018.pdf

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: 1054C>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: R352C

PubMed Link: 30559449

Variant Present in the following documents:

• 41467_2018_7750_MOESM4_ESM.pdf

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

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

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: NLRP12: 1054C>T

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

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: NLRP12: Arg352Cys

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NLRP12: 1054C>T; R352C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: NLRP12: R352C

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Scientific Reports

Di Gioia, Silvio Alessandro SA; Bedoni, Nicola N; von Scheven-Gête, Annette A; Vanoni, Federica F; Superti-Furga, Andrea A; Hofer, Michaël M; Rivolta, Carlo C

Publication Date: 2015-05-19

Variant appearance in text: NLRP12: R352C

PubMed Link: 25988833

Variant Present in the following documents:

• Main text
• srep10200.pdf

View BVdb publication page

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Esid 2014 oral presentations.

Journal Of Clinical Immunology

Publication Date: 2014-10

Variant appearance in text: NLRP12: 1054C>T; Arg352Cys

PubMed Link: 25344390

Variant Present in the following documents:

• Main text

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: 1054C>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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Intracellular sensing of microbes and danger signals by the inflammasomes.

Immunological Reviews

Horvath, Gabor L GL; Schrum, Jacob E JE; De Nardo, Christine M CM; Latz, Eicke E

Publication Date: 2011-09

Variant appearance in text: NLRP12: R352C

PubMed Link: 21884172

Variant Present in the following documents:

• Main text

View BVdb publication page

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