Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: IL36RN: 338C>T; S113L

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: IL36RN: S113L; rs144478519

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: IL36RN: S113L; rs144478519

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: IL36RN: S113L; rs144478519

PubMed Link: 34905135

Variant Present in the following documents:

• Main text
• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
• 43141_2021_Article_268.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: IL36RN: S113L; rs144478519

PubMed Link: 34905135

Variant Present in the following documents:

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

View BVdb publication page

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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: Ser113Leu

PubMed Link: 34445754

Variant Present in the following documents:

• Main text
• ijms-22-09048.pdf

View BVdb publication page

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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: S113L

PubMed Link: 34434197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 338C>T; Ser113Leu

PubMed Link: 33955502

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: IL36RN: 338C>T; S113L; rs144478519

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

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: 338C>T

PubMed Link: 33157966

Variant Present in the following documents:

• Main text
• medi-99-e23068.pdf

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: Ser113Leu

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: 338C>T; Ser113Leu

PubMed Link: 32758447

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc3.pdf
• main.pdf

View BVdb publication page

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The French paediatric cohort of Castleman disease: a retrospective report of 23 patients.

Orphanet Journal Of Rare Diseases

Borocco, Charlotte C; Ballot-Schmit, Claire C; Ackermann, Oanez O; Aladjidi, Nathalie N; Delaleu, Jeremie J; Giacobbi-Milet, Vannina V; Jannier, Sarah S; Jeziorski, Eric E; Maurier, François F; Perel, Yves Y; Piguet, Christophe C; Oksenhendler, Eric E; Koné-Paut, Isabelle I; Galeotti, Caroline C

Publication Date: 2020-04-17

Variant appearance in text: IL36RN: S113L

PubMed Link: 32303241

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1345.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: IL36RN: 338C>T; Ser113Leu; rs144478519

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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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: Ser113Leu

PubMed Link: 31789248

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.

Pediatric Rheumatology Online Journal

Hospach, Toni T; Glowatzki, Fabian F; Blankenburg, Friederike F; Conzelmann, Dennis D; Stirnkorb, Christian C; Müllerschön, Chris Sandra CS; von den Driesch, Peter P; Köhler, Lisa Maria LM; Rohlfs, Meino M; Klein, Christoph C; Hauck, Fabian F

Publication Date: 2019-07-08

Variant appearance in text: IL36RN: Ser113Leu

PubMed Link: 31286990

Variant Present in the following documents:

• Main text
• 12969_2019_Article_338.pdf

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: IL36RN: S113L

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 8

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: IL36RN: S113L; rs144478519

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: Ser113Leu

PubMed Link: 30392030

Variant Present in the following documents:

• Main text
• 13555_2018_Article_269.pdf

View BVdb publication page

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Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.

Frontiers In Immunology

Israel, Laura L; Mellett, Mark M

Publication Date: 2018

Variant appearance in text: IL36RN: S113L

PubMed Link: 30386326

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 338C>T; Ser113Leu

PubMed Link: 30075588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and genetic differences between pustular psoriasis subtypes.

The Journal Of Allergy And Clinical Immunology

Twelves, Sophie S; Mostafa, Alshimaa A; Dand, Nick N; Burri, Elias E; Farkas, Katalin K; Wilson, Rosemary R; Cooper, Hywel L HL; Irvine, Alan D AD; Oon, Hazel H HH; Kingo, Külli K; Köks, Sulev S; Mrowietz, Ulrich U; Puig, Luis L; Reynolds, Nick N; Tan, Eugene Sern-Ting ES; Tanew, Adrian A; Torz, Kaspar K; Trattner, Hannes H; Valentine, Mark M; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; Bata-Csörgő, Zsuzsa Z; Szell, Marta M; Griffiths, Christopher E M CEM; Burden, A David AD; Choon, Siew-Eng SE; Smith, Catherine H CH; Barker, Jonathan N JN; Navarini, Alexander A AA; Capon, Francesca F

Publication Date: 2019-03

Variant appearance in text: IL36RN: Ser113Leu

PubMed Link: 30036598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acrodermatitis Continua of Hallopeau with Bone Resorption in an 8-Year-Old Patient: A Case Report.

Case Reports In Dermatology

Alorainy, May M; Alshaya, Mohammed M; Al-Rikabi, Ammar A; Ayesh, Mohammed M; Alsaif, Fahad F

Publication Date: 2017

Variant appearance in text: IL36RN: 338C>T; Ser113Leu

PubMed Link: 29422844

Variant Present in the following documents:

• Main text
• cde-0009-0259.pdf

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: IL36RN: 338C>T; Ser113Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: IL36RN: S113L; rs144478519

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

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: IL36RN: 338C>T

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: IL36RN: 338C>T; S113L; rs144478519

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.

The Journal Of Investigative Dermatology

Mahil, Satveer K SK; Twelves, Sophie S; Farkas, Katalin K; Setta-Kaffetzi, Niovi N; Burden, A David AD; Gach, Joanna E JE; Irvine, Alan D AD; Képíró, László L; Mockenhaupt, Maja M; Oon, Hazel H HH; Pinner, Jason J; Ranki, Annamari A; Seyger, Marieke M B MMB; Soler-Palacin, Pere P; Storan, Eoin R ER; Tan, Eugene S ES; Valeyrie-Allanore, Laurence L; Young, Helen S HS; Trembath, Richard C RC; Choon, Siew-Eng SE; Szell, Marta M; Bata-Csorgo, Zsuzsanna Z; Smith, Catherine H CH; Di Meglio, Paola P; Barker, Jonathan N JN; Capon, Francesca F

Publication Date: 2016-11

Variant appearance in text: IL36RN: Ser113Leu

PubMed Link: 27388993

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate.

Jaad Case Reports

Teoh, Yee-Leng YL; Tay, Yong-Kwang YK

Publication Date: 2015-03

Variant appearance in text: IL36RA: Ser113Leu

PubMed Link: 27051681

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs144478519

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: S113L

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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A tale of two sisters: identical IL36RN mutations and discordant phenotypes.

The British Journal Of Dermatology

Rajan, N N; Sinclair, N N; Nakai, H H; Shimomura, Y Y; Natarajan, S S

Publication Date: 2016-02

Variant appearance in text: IL36RN: 338C>T; Ser113Leu

PubMed Link: 26147717

Variant Present in the following documents:

• Main text
• BJD-174-417.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: IL36RN: S113L

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs144478519

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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: 338C>T; Ser113Leu

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: S113L

PubMed Link: 23711932

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Ser113Leu

PubMed Link: 22288582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

American Journal Of Human Genetics

Onoufriadis, Alexandros A; Simpson, Michael A MA; Pink, Andrew E AE; Di Meglio, Paola P; Smith, Catherine H CH; Pullabhatla, Venu V; Knight, Jo J; Spain, Sarah L SL; Nestle, Frank O FO; Burden, A David AD; Capon, Francesca F; Trembath, Richard C RC; Barker, Jonathan N JN

Publication Date: 2011-09-09

Variant appearance in text: IL36RN: 338C>T

PubMed Link: 21839423

Variant Present in the following documents:

• Main text

View BVdb publication page

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