Publications:

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: IL36RN: Leu27Pro; rs387906914

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

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Break on through: The role of innate immunity and barrier defence in atopic dermatitis and psoriasis.

Skin Health And Disease

Hawerkamp, H C HC; Fahy, C M R CMR; Fallon, P G PG; Schwartz, C C

Publication Date: 2022-06

Variant appearance in text: rs387906914

PubMed Link: 35677926

Variant Present in the following documents:

• Main text
• SKI2-2-e99.pdf

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Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Dermatology And Therapy

Sugiura, Kazumitsu K

Publication Date: 2022-02

Variant appearance in text: IL36RN: 80T>C

PubMed Link: 35060076

Variant Present in the following documents:

• Main text
• 13555_2021_Article_677.pdf

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Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity.

International Journal Of Molecular Sciences

Samotij, Dominik D; Szczęch, Justyna J; Reich, Adam A

Publication Date: 2021-08-22

Variant appearance in text: IL36RN: Leu27Pro

PubMed Link: 34445754

Variant Present in the following documents:

• Main text
• ijms-22-09048.pdf

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NF-κB: At the Borders of Autoimmunity and Inflammation.

Frontiers In Immunology

Barnabei, Laura L; Laplantine, Emmanuel E; Mbongo, William W; Rieux-Laucat, Frédéric F; Weil, Robert R

Publication Date: 2021

Variant appearance in text: IL36RN: L27P

PubMed Link: 34434197

Variant Present in the following documents:

• Main text

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An update on genetic basis of generalized pustular psoriasis (Review).

International Journal Of Molecular Medicine

Zhou, Jiahong J; Luo, Qing Q; Cheng, Yang Y; Wen, Xia X; Liu, Jinbo J

Publication Date: 2021-06

Variant appearance in text: IL36RN: 80T>C; Leu27Pro

PubMed Link: 33955502

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: A PRISMA-compliant systematic review and meta-analysis.

Medicine

Liu, Zhi-Jie ZJ; Tian, Yu-Tong YT; Shi, Bo-Yi BY; Zhou, Yin Y; Jia, Xue-Song XS

Publication Date: 2020-11-06

Variant appearance in text: IL36RN: 80T>C

PubMed Link: 33157966

Variant Present in the following documents:

• Main text
• medi-99-e23068.pdf

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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: IL36RN: 80T>C; Leu27Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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"Autoinflammatory psoriasis"-genetics and biology of pustular psoriasis.

Cellular & Molecular Immunology

Uppala, Ranjitha R; Tsoi, Lam C LC; Harms, Paul W PW; Wang, Bo B; Billi, Allison C AC; Maverakis, Emanual E; Michelle Kahlenberg, J J; Ward, Nicole L NL; Gudjonsson, Johann E JE

Publication Date: 2021-02

Variant appearance in text: IL36RN: Leu27Pro

PubMed Link: 32814870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

American Journal Of Human Genetics

Haskamp, Stefan S; Bruns, Heiko H; Hahn, Madelaine M; Hoffmann, Markus M; Gregor, Anne A; Löhr, Sabine S; Hahn, Jonas J; Schauer, Christine C; Ringer, Mark M; Flamann, Cindy C; Frey, Benjamin B; Lesner, Adam A; Thiel, Christian T CT; Ekici, Arif B AB; von Hörsten, Stephan S; Aßmann, Gunter G; Riepe, Claudia C; Euler, Maximilien M; Schäkel, Knut K; Philipp, Sandra S; Prinz, Jörg C JC; Mößner, Rotraut R; Kersting, Florina F; Sticherling, Michael M; Sefiani, Abdelaziz A; Lyahyai, Jaber J; Sondermann, Wiebke W; Oji, Vinzenz V; Schulz, Peter P; Wilsmann-Theis, Dagmar D; Sticht, Heinrich H; Schett, Georg G; Reis, André A; Uebe, Steffen S; Frey, Silke S; Hüffmeier, Ulrike U

Publication Date: 2020-09-03

Variant appearance in text: IL36RN: 80T>C; Leu27Pro

PubMed Link: 32758447

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf

View BVdb publication page

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Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients.

Anais Brasileiros De Dermatologia

Xiaoling, Yu Y; Dan, Shu S; Hongzhong, Jin J

Publication Date: 2019

Variant appearance in text: IL36RN: Leu27Pro

PubMed Link: 31789248

Variant Present in the following documents:

• Main text
• main.pdf

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: IL36RN: 80T>C; Leu27Pro; rs387906914

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds.

The British Journal Of Dermatology

Sbidian, E E; Madrange, M M; Viguier, M M; Salmona, M M; Duchatelet, S S; Hovnanian, A A; Smahi, A A; Le Goff, J J; Bachelez, H H

Publication Date: 2019-12

Variant appearance in text: IL36RN: 80T>C; Leu27Pro

PubMed Link: 31150103

Variant Present in the following documents:

• Main text
• BJD-181-1304.pdf

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Scoping Review on Use of Drugs Targeting Interleukin 1 Pathway in DIRA and DITRA.

Dermatology And Therapy

Gómez-García, Francisco F; Sanz-Cabanillas, Juan L JL; Viguera-Guerra, Isabel I; Isla-Tejera, Beatriz B; Nieto, Antonio Vélez-García AV; Ruano, Juan J

Publication Date: 2018-12

Variant appearance in text: IL36RN: Leu27Pro

PubMed Link: 30392030

Variant Present in the following documents:

• Main text
• 13555_2018_Article_269.pdf
• 13555_2018_269_MOESM1_ESM.pdf

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Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study.

Medicine

Li, Zhongtao Z; Yang, Qianyi Q; Wang, Sheng S

Publication Date: 2018-08

Variant appearance in text: IL36RN: 80T>C; Leu27Pro

PubMed Link: 30075588

Variant Present in the following documents:

• Main text
• medi-97-e11741.pdf

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Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin.

Jaad Case Reports

Cuperus, Edwin E; Koevoets, Rosanne R; van der Smagt, Jasper J JJ; Toonstra, Johan J; de Graaf, Marlies M; Frenkel, Joost J; Pasmans, Suzanne G M A SGMA

Publication Date: 2018-03

Variant appearance in text: IL36RN: 80T>C; Leu27Pro

PubMed Link: 29892664

Variant Present in the following documents:

• Main text
• main.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: IL36RN: 80T>C

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: IL36RN: 80T>C; L27P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IL36RN: L27P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.

Rheumatic Diseases Clinics Of North America

Sanchez, Gina A Montealegre GA; de Jesus, Adriana Almeida AA; Goldbach-Mansky, Raphaela R

Publication Date: 2013-11

Variant appearance in text: IL36RN: L27P

PubMed Link: 24182851

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: IL36RN: Leu27Pro

PubMed Link: 24131530

Variant Present in the following documents:

• Main text
• 1750-1172-8-162.pdf

View BVdb publication page

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

Clinical Immunology (Orlando, Fla.)

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

Publication Date: 2013-06

Variant appearance in text: IL36RN: L27P

PubMed Link: 23711932

Variant Present in the following documents:

• Main text

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Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

Clinical And Experimental Immunology

Goldbach-Mansky, R R

Publication Date: 2012-03

Variant appearance in text: IL36RN: Leu27Pro

PubMed Link: 22288582

Variant Present in the following documents:

• Main text

View BVdb publication page

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