IL36RN c.368C>T ;(p.T123M)

Variant ID: 2-113820154-C-T

NM_012275.2(IL36RN):c.368C>T;(p.T123M)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: rs397514629
PubMed Link: 35677926
Variant Present in the following documents:
  • Main text
  • SKI2-2-e99.pdf
View BVdb publication page



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: 368C>T
PubMed Link: 35060076
Variant Present in the following documents:
  • Main text
  • 13555_2021_Article_677.pdf
View BVdb publication page



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: 368C>T; Thr123Met
PubMed Link: 33955502
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 368C>T
PubMed Link: 33157966
Variant Present in the following documents:
  • Main text
  • medi-99-e23068.pdf
View BVdb publication page



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: 368C>T; Thr123Met
PubMed Link: 32758447
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page



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: IL36RN: 368C>T; Thr123Met; rs397514629
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



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: Thr123Met
PubMed Link: 31286990
Variant Present in the following documents:
  • Main text
  • 12969_2019_Article_338.pdf
View BVdb publication page



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: 368C>T
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: IL36RN: T123M
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



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: 368C>T; Thr123Met
PubMed Link: 26147717
Variant Present in the following documents:
  • Main text
  • BJD-174-417.pdf
View BVdb publication page