Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: IL36RN: 227C>T; Pro76Leu

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations.

Frontiers In Genetics

Tong, Xinyun X; Li, Yang Y; Tang, Xianfa X; Ding, Yantao Y; Sun, Yao Y; Zheng, Liyun L; Pan, Yulong Y; Liu, Shengxiu S

Publication Date: 2022

Variant appearance in text: IL36RN: 227C>T; Pro76Leu

PubMed Link: 36704338

Variant Present in the following documents:

• Main text
• fgene-13-1035037.pdf

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: IL36RN: P76L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2

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NLRP12 and IL36RN mutations in a Portuguese woman with autoinflammatory syndrome.

Jaad Case Reports

Antunes-Duarte, Sofia S; Marcos-Pinto, Ana A; French, Lars E LE; Kutzner, Heinz H; Soares-de-Almeida, Luís L

Publication Date: 2022-08

Variant appearance in text: IL36RN: 227C>T; Pro76Leu

PubMed Link: 35942351

Variant Present in the following documents:

• Main text
• main.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: 227C>T

PubMed Link: 35060076

Variant Present in the following documents:

• Main text
• 13555_2021_Article_677.pdf

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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: 227C>T; Pro76Leu

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: 227C>T

PubMed Link: 33157966

Variant Present in the following documents:

• Main text
• medi-99-e23068.pdf

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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: Pro76Leu

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: 227C>T; Pro76Leu

PubMed Link: 32758447

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

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Recurrent generalized pustular psoriasis possibly triggered by apremilast.

Chinese Medical Journal

Wang, Wen-Ming WM; Shu, Dan D; Jiang, Yan-Yun YY; Jin, Hong-Zhong HZ

Publication Date: 2020-05-20

Variant appearance in text: IL36RN: 227C>T

PubMed Link: 32433065

Variant Present in the following documents:

• Main text
• cm9-133-1259.pdf

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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: Pro76Leu

PubMed Link: 31286990

Variant Present in the following documents:

• Main text
• 12969_2019_Article_338.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: Pro76Leu

PubMed Link: 30392030

Variant Present in the following documents:

• Main text
• 13555_2018_Article_269.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: 227C>T; Pro76Leu; rs139497891

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: Pro76Leu

PubMed Link: 30036598

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA sequencing-based longitudinal transcriptomic profiling gives novel insights into the disease mechanism of generalized pustular psoriasis.

Bmc Medical Genomics

Wang, Lingyan L; Yu, Xiaoling X; Wu, Chao C; Zhu, Teng T; Wang, Wenming W; Zheng, Xiaofeng X; Jin, Hongzhong H

Publication Date: 2018-06-05

Variant appearance in text: IL36RN: 227C>T

PubMed Link: 29871627

Variant Present in the following documents:

• Main text
• 12920_2018_Article_369.pdf

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: IL36RN: P76L

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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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: 227C>T

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

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: 227C>T; P76L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: Pro76Leu

PubMed Link: 27051681

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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