Publications:

---

Genotype-protein phenotype characterization of NOD2 and IL23R missense variants associated with inflammatory bowel disease: A paradigm from molecular modelling, dynamics, and docking simulations.

Frontiers In Medicine

Nasser, Khalidah Khalid KK; Shinawi, Thoraia T

Publication Date: 2022

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 36703890

Variant Present in the following documents:

• Main text
• fmed-09-1090120.pdf

View BVdb publication page

---

Genome-wide association study of leprosy in Malawi and Mali.

Plos Pathogens

Gilchrist, James J JJ; Auckland, Kathryn K; Parks, Tom T; Mentzer, Alexander J AJ; Goldblatt, Lily L; Naranbhai, Vivek V; Band, Gavin G; Rockett, Kirk A KA; Toure, Ousmane B OB; Konate, Salimata S; Sissoko, Sibiri S; Djimdé, Abdoulaye A AA; Thera, Mahamadou A MA; Doumbo, Ogobara K OK; Sow, Samba S; Floyd, Sian S; Pönnighaus, Jörg M JM; Warndorff, David K DK; Crampin, Amelia C AC; Fine, Paul E M PEM; Fairfax, Benjamin P BP; Hill, Adrian V S AVS

Publication Date: 2022-09

Variant appearance in text: rs76418789

PubMed Link: 36121873

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: IL23R: G149R; rs76418789

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

---

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

---

A Chaperone-Like Role for EBI3 in Collaboration With Calnexin Under Inflammatory Conditions.

Frontiers In Immunology

Watanabe, Aruma A; Mizoguchi, Izuru I; Hasegawa, Hideaki H; Katahira, Yasuhiro Y; Inoue, Shinya S; Sakamoto, Eri E; Furusaka, Yuma Y; Sekine, Ami A; Miyakawa, Satomi S; Murakami, Fumihiro F; Xu, Mingli M; Yoneto, Toshihiko T; Yoshimoto, Takayuki T

Publication Date: 2021

Variant appearance in text: IL-23R: G149R

PubMed Link: 34603342

Variant Present in the following documents:

• Main text
• fimmu-12-757669.pdf

View BVdb publication page

---

Single-Nucleotide Polymorphisms Related to Leprosy Risk and Clinical Phenotypes Among Chinese Population.

Pharmacogenomics And Personalized Medicine

Long, Si-Yu SY; Wang, Le L; Jiang, Hai-Qin HQ; Shi, Ying Y; Zhang, Wen-Yue WY; Xiong, Jing-Shu JS; Sun, Pei-Wen PW; Chen, Yan-Qing YQ; Mei, You-Ming YM; Pan, Chun C; Ge, Gai G; Wang, Zhen-Zhen ZZ; Wu, Zi-Wei ZW; Yu, Mei-Wen MW; Wang, Hong-Sheng HS

Publication Date: 2021

Variant appearance in text: rs76418789

PubMed Link: 34285550

Variant Present in the following documents:

• Main text
• pgpm-14-813.pdf

View BVdb publication page

---

Genetics of Ankylosing Spondylitis-Focusing on the Ethnic Difference Between East Asia and Europe.

Frontiers In Genetics

Wu, Xin X; Wang, Geng G; Zhang, Luding L; Xu, Huji H

Publication Date: 2021

Variant appearance in text: rs76418789

PubMed Link: 34194471

Variant Present in the following documents:

• Main text
• fgene-12-671682.pdf

View BVdb publication page

---

Predictive nomogram for leprosy using genetic and epidemiological risk factors in Southwestern China: Case-control and prospective analyses.

Ebiomedicine

Long, Si-Yu SY; Sun, Ji-Ya JY; Wang, Le L; Long, Heng H; Jiang, Hai-Qin HQ; Shi, Ying Y; Zhang, Wen-Yue WY; Xiong, Jing-Shu JS; Sun, Pei-Wen PW; Chen, Yan-Qing YQ; Mei, You-Ming YM; Pan, Chun C; Wang, Zhen-Zhen ZZ; Wu, Zi-Wei ZW; Wu, Ai-Ping AP; Yu, Mei-Wen MW; Wang, Hong-Sheng HS

Publication Date: 2021-06

Variant appearance in text: rs76418789

PubMed Link: 34051440

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of the IL23/IL17 Pathway in Crohn's Disease.

Frontiers In Immunology

Schmitt, Heike H; Neurath, Markus F MF; Atreya, Raja R

Publication Date: 2021

Variant appearance in text: IL23R: G149R

PubMed Link: 33859636

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutational analyses of novel rat models with targeted modifications in inflammatory bowel disease susceptibility genes.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Men, Hongsheng H; Hankins, Miriam A MA; Bock, Anagha S AS; Beaton, Benjamin P BP; Davis, Daniel J DJ; Chesney, Kari L KL; Bryda, Elizabeth C EC

Publication Date: 2021-06

Variant appearance in text: IL23R: G149R

PubMed Link: 33843019

Variant Present in the following documents:

• Main text
• 335_2021_Article_9868.pdf

View BVdb publication page

---

Single-Nucleotide Polymorphisms in Genes Predisposing to Leprosy in Leprosy Household Contacts in Zhejiang Province, China.

Pharmacogenomics And Personalized Medicine

Shen, Yun-Liang YL; Long, Si-Yu SY; Kong, Wen-Ming WM; Wu, Li-Mei LM; Fei, Li-Juan LJ; Yao, Qiang Q; Wang, Hong-Sheng HS

Publication Date: 2020

Variant appearance in text: rs76418789

PubMed Link: 33376384

Variant Present in the following documents:

• Main text

View BVdb publication page

---

All are Equal, Some are More Equal: Targeting IL 12 and 23 in IBD - A Clinical Perspective.

Immunotargets And Therapy

Jefremow, André A; Neurath, Markus F MF

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 33274187

Variant Present in the following documents:

View BVdb publication page

---

IL-12 and IL-23-Close Relatives with Structural Homologies but Distinct Immunological Functions.

Cells

Floss, Doreen M DM; Moll, Jens M JM; Scheller, Jürgen J

Publication Date: 2020-09-28

Variant appearance in text: IL-23R: G149R; rs76418789

PubMed Link: 32998371

Variant Present in the following documents:

• Main text
• cells-09-02184.pdf

View BVdb publication page

---

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.

Communications Biology

Meguro, Akira A; Ishihara, Mami M; Petrek, Martin M; Yamamoto, Ken K; Takeuchi, Masaki M; Mrazek, Frantisek F; Kolek, Vitezslav V; Benicka, Alzbeta A; Yamane, Takahiro T; Shibuya, Etsuko E; Yoshino, Atsushi A; Isomoto, Akiko A; Ota, Masao M; Yatsu, Keisuke K; Shijubo, Noriharu N; Nagai, Sonoko S; Yamaguchi, Etsuro E; Yamaguchi, Tetsuo T; Namba, Kenichi K; Kaburaki, Toshikatsu T; Takase, Hiroshi H; Morimoto, Shin-Ichiro SI; Hori, Junko J; Kono, Keiko K; Goto, Hiroshi H; Suda, Takafumi T; Ikushima, Soichiro S; Ando, Yasutaka Y; Takenaka, Shinobu S; Takeuchi, Masaru M; Yuasa, Takenosuke T; Sugisaki, Katsunori K; Ohguro, Nobuyuki N; Hiraoka, Miki M; Kitaichi, Nobuyoshi N; Sugiyama, Yukihiko Y; Horita, Nobuyuki N; Asukata, Yuri Y; Kawagoe, Tatsukata T; Kimura, Ikuko I; Ishido, Mizuho M; Inoko, Hidetoshi H; Mochizuki, Manabu M; Ohno, Shigeaki S; Bahram, Seiamak S; Remmers, Elaine F EF; Kastner, Daniel L DL; Mizuki, Nobuhisa N

Publication Date: 2020-08-21

Variant appearance in text: IL23R: Gly149Arg; rs76418789

PubMed Link: 32826979

Variant Present in the following documents:

• Main text
• 42003_2020_1185_MOESM1_ESM.pdf
• 42003_2020_Article_1185.pdf

View BVdb publication page

---

EBV-induced gene 3 augments IL-23Rα protein expression through a chaperone calnexin.

The Journal Of Clinical Investigation

Mizoguchi, Izuru I; Ohashi, Mio M; Hasegawa, Hideaki H; Chiba, Yukino Y; Orii, Naoko N; Inoue, Shinya S; Kawana, Chiaki C; Xu, Mingli M; Sudo, Katsuko K; Fujita, Koji K; Kuroda, Masahiko M; Hashimoto, Shin-Ichi SI; Matsushima, Kouji K; Yoshimoto, Takayuki T

Publication Date: 2020-11-02

Variant appearance in text: IL-23R: G149R

PubMed Link: 32809973

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations.

Scientific Reports

Kakuta, Yoichi Y; Ichikawa, Ryo R; Fuyuno, Yuta Y; Hirano, Atsushi A; Umeno, Junji J; Torisu, Takehiro T; Watanabe, Kazuhiro K; Asakura, Akihiro A; Nakano, Takeru T; Izumiyama, Yasuhiro Y; Okamoto, Daisuke D; Naito, Takeo T; Moroi, Rintaro R; Kuroha, Masatake M; Kanazawa, Yoshitake Y; Kimura, Tomoya T; Shiga, Hisashi H; Naito, Takeshi T; Esaki, Motohiro M; Kawai, Yosuke Y; Tokunaga, Katsushi K; Nakamura, Minoru M; Matsumoto, Takayuki T; Nagasaki, Masao M; Kinouchi, Yoshitaka Y; Unno, Michiaki M; Masamune, Atsushi A

Publication Date: 2020-06-24

Variant appearance in text: IL23R: Gly149Arg; rs76418789

PubMed Link: 32581322

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66951.pdf

View BVdb publication page

---

Association of NOD2 and IFNG single nucleotide polymorphisms with leprosy in the Amazon ethnic admixed population.

Plos Neglected Tropical Diseases

Leturiondo, André Luiz AL; Noronha, Ariani Batista AB; Mendonça, Carla Yael Ribeiro CYR; Ferreira, Cynthia de Oliveira CO; Alvarado-Arnez, Lucia Elena LE; Manta, Fernanda Saloum de Neves FSN; Bezerra, Ohanna Cavalcanti de Lima OCL; Carvalho, Elizeu Fagundes de EF; Moraes, Milton Ozório MO; Rodrigues, Fabíola da Costa FDC; Talhari, Carolina C

Publication Date: 2020-05

Variant appearance in text: rs76418789

PubMed Link: 32433683

Variant Present in the following documents:

• Main text
• pntd.0008247.pdf

View BVdb publication page

---

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zhang, Min M; Wang, Xiaoyan X; Jiang, Xiaodong X; Yang, Xiangling X; Wen, Chuangyu C; Zhi, Min M; Gao, Xiang X; Hu, Pinjin P; Liu, Huanliang H

Publication Date: 2019-12-17

Variant appearance in text: rs76418789

PubMed Link: 31844038

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association of IL23R Variants With Crohn's Disease in Korean Children.

Frontiers In Pediatrics

Hong, Jeana J; Yang, Hye Ran HR; Moon, Jin Soo JS; Chang, Ju Young JY; Ko, Jae Sung JS

Publication Date: 2019

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 31799225

Variant Present in the following documents:

• Main text
• fped-07-00472.pdf

View BVdb publication page

---

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.

Bmj Open

Shickh, Salma S; Clausen, Marc M; Mighton, Chloe C; Gutierrez Salazar, Mariana M; Zakoor, Kathleen-Rose KR; Kodida, Rita R; Reble, Emma E; Elser, Christine C; Eisen, Andrea A; Panchal, Seema S; Aronson, Melyssa M; Graham, Tracy T; Armel, Susan Randall SR; Morel, Chantal F CF; Fattouh, Ramzi R; Glogowski, Emily E; Schrader, Kasmintan A KA; Hamilton, Jada G JG; Offit, Kenneth K; Robson, Mark M; Carroll, June C JC; Isaranuwatchai, Wanrudee W; Kim, Raymond H RH; Lerner-Ellis, Jordan J; Thorpe, Kevin E KE; Laupacis, Andreas A; Bombard, Yvonne Y; ,

Publication Date: 2019-10-07

Variant appearance in text: rs76418789

PubMed Link: 31594892

Variant Present in the following documents:

• bmjopen-2019-031092.draft_revisions.pdf

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: IL23R: G149R

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55

View BVdb publication page

---

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Cells

Park, Sung Chul SC; Jeen, Yoon Tae YT

Publication Date: 2019-05-01

Variant appearance in text: IL23R: G149R

PubMed Link: 31052430

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The parallel paradigm between intestinal transplant inflammation and inflammatory bowel disease.

Current Opinion In Organ Transplantation

Belyayev, Leonid L; Loh, Katrina K; Fishbein, Thomas M TM; Kroemer, Alexander A

Publication Date: 2019-04

Variant appearance in text: N/A

PubMed Link: 30694990

Variant Present in the following documents:

View BVdb publication page

---

A Genome-wide Association Study Identifying RAP1A as a Novel Susceptibility Gene for Crohn's Disease in Japanese Individuals.

Journal Of Crohn'S & Colitis

Kakuta, Yoichi Y; Kawai, Yosuke Y; Naito, Takeo T; Hirano, Atsushi A; Umeno, Junji J; Fuyuno, Yuta Y; Liu, Zhenqiu Z; Li, Dalin D; Nakano, Takeru T; Izumiyama, Yasuhiro Y; Ichikawa, Ryo R; Okamoto, Daisuke D; Nagai, Hiroshi H; Matsumoto, Shin S; Yamamoto, Katsutoshi K; Yokoyama, Naonobu N; Chiba, Hirofumi H; Shimoyama, Yusuke Y; Onodera, Motoyuki M; Moroi, Rintaro R; Kuroha, Masatake M; Kanazawa, Yoshitake Y; Kimura, Tomoya T; Shiga, Hisashi H; Endo, Katsuya K; Negoro, Kenichi K; Yasuda, Jun J; Esaki, Motohiro M; Tokunaga, Katsushi K; Nakamura, Minoru M; Matsumoto, Takayuki T; McGovern, Dermot P B DPB; Nagasaki, Masao M; Kinouchi, Yoshitaka Y; Shimosegawa, Tooru T; Masamune, Atsushi A

Publication Date: 2019-04-26

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 30500874

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human genetics of mycobacterial disease.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Dallmann-Sauer, Monica M; Correa-Macedo, Wilian W; Schurr, Erwin E

Publication Date: 2018-08

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 30116885

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.

The Open Rheumatology Journal

Deng, Yan Y; Zhu, Weifeng W; Zhou, Xiaodong X

Publication Date: 2018

Variant appearance in text: IL-23R: Gly149Arg; rs76418789

PubMed Link: 30069262

Variant Present in the following documents:

• Main text
• TORJ-12-70.pdf

View BVdb publication page

---

Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics

Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X

Publication Date: 2019

Variant appearance in text: rs76418789

PubMed Link: 29990020

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: IL23R: 445G>A; G149R; rs76418789

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

---

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: IL23R: Gly149Arg; rs76418789

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Progress of genome-wide association studies of ankylosing spondylitis.

Clinical & Translational Immunology

Li, Zhixiu Z; Brown, Matthew A MA

Publication Date: 2017-12

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 29333268

Variant Present in the following documents:

• Main text
• cti201749a.pdf

View BVdb publication page

---

Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1.

Immunity

Bloch, Yehudi Y; Bouchareychas, Laura L; Merceron, Romain R; Składanowska, Katarzyna K; Van den Bossche, Lien L; Detry, Sammy S; Govindarajan, Srinath S; Elewaut, Dirk D; Haerynck, Filomeen F; Dullaers, Melissa M; Adamopoulos, Iannis E IE; Savvides, Savvas N SN

Publication Date: 2018-01-16

Variant appearance in text: IL-23R: G149R

PubMed Link: 29287995

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Human Molecular Genetics

Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN

Publication Date: 2017-11-01

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 28973304

Variant Present in the following documents:

• dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx, sheet 4

View BVdb publication page

---

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature

Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC

Publication Date: 2017-07-13

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 28658209

Variant Present in the following documents:

• Main text
• NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 3
• emss-72714.pdf
• NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2

View BVdb publication page

---

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Plos Genetics

Hu, Hao H; Petousi, Nayia N; Glusman, Gustavo G; Yu, Yao Y; Bohlender, Ryan R; Tashi, Tsewang T; Downie, Jonathan M JM; Roach, Jared C JC; Cole, Amy M AM; Lorenzo, Felipe R FR; Rogers, Alan R AR; Brunkow, Mary E ME; Cavalleri, Gianpiero G; Hood, Leroy L; Alpatty, Sama M SM; Prchal, Josef T JT; Jorde, Lynn B LB; Robbins, Peter A PA; Simonson, Tatum S TS; Huff, Chad D CD

Publication Date: 2017-04

Variant appearance in text: N/A

PubMed Link: 28448578

Variant Present in the following documents:

View BVdb publication page

---

Recent Advances: The Imbalance of Cytokines in the Pathogenesis of Inflammatory Bowel Disease.

Mediators Of Inflammation

Guan, Qingdong Q; Zhang, Jiguo J

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 28420941

Variant Present in the following documents:

View BVdb publication page

---

Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases.

Aging

Li, Fei-Feng FF; Zhu, Xi-Dong XD; Yan, Peng P; Jin, Mei-Hua MH; Yue, Hui H; Zhang, Qiong Q; Fu, Jin J; Liu, Shu-Lin SL

Publication Date: 2016-11-26

Variant appearance in text: rs76418789

PubMed Link: 27893410

Variant Present in the following documents:

• Main text
• aging-08-2734.pdf

View BVdb publication page

---

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Nature Communications

Rivas, Manuel A MA; Graham, Daniel D; Sulem, Patrick P; Stevens, Christine C; Desch, A Nicole AN; Goyette, Philippe P; Gudbjartsson, Daniel D; Jonsdottir, Ingileif I; Thorsteinsdottir, Unnur U; Degenhardt, Frauke F; Mucha, Sören S; Kurki, Mitja I MI; Li, Dalin D; D'Amato, Mauro M; Annese, Vito V; Vermeire, Severine S; Weersma, Rinse K RK; Halfvarson, Jonas J; Paavola-Sakki, Paulina P; Lappalainen, Maarit M; Lek, Monkol M; Cummings, Beryl B; Tukiainen, Taru T; Haritunians, Talin T; Halme, Leena L; Koskinen, Lotta L E LL; Ananthakrishnan, Ashwin N AN; Luo, Yang Y; Heap, Graham A GA; Visschedijk, Marijn C MC; , ; , ; MacArthur, Daniel G DG; Neale, Benjamin M BM; Ahmad, Tariq T; Anderson, Carl A CA; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Cho, Judy H JH; Palotie, Aarno A; Saavalainen, Päivi P; Kontula, Kimmo K; Färkkilä, Martti M; McGovern, Dermot P B DP; Franke, Andre A; Stefansson, Kari K; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ; Barrett, J J; de Lane, K K; Edwards, C C; Hart, A A; Hawkey, C C; Jostins, L L; Kennedy, N N; Lamb, C C; Lee, J J; Lees, C C; Mansfield, J J; Mathew, C C; Mowatt, C C; Newman, B B; Nimmo, E E; Parkes, M M; Pollard, M M; Prescott, N N; Randall, J J; Rice, D D; Satsangi, J J; Simmons, A A; Tremelling, M M; Uhlig, H H; Wilson, D D; Abraham, C C; Achkar, J P JP; Bitton, A A; Boucher, G G; Croitoru, K K; Fleshner, P P; Glas, J J; Kugathasan, S S; Limbergen, J V JV; Milgrom, R R; Proctor, D D; Regueiro, M M; Schumm, P L PL; Sharma, Y Y; Stempak, J M JM; Targan, S R SR; Wang, M H MH

Publication Date: 2016-08-09

Variant appearance in text: N/A

PubMed Link: 27503255

Variant Present in the following documents:

View BVdb publication page

---

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Plos One

Visschedijk, Marijn C MC; Alberts, Rudi R; Mucha, Soren S; Deelen, Patrick P; de Jong, Dirk J DJ; Pierik, Marieke M; Spekhorst, Lieke M LM; Imhann, Floris F; van der Meulen-de Jong, Andrea E AE; van der Woude, C Janneke CJ; van Bodegraven, Adriaan A AA; Oldenburg, Bas B; Löwenberg, Mark M; Dijkstra, Gerard G; Ellinghaus, David D; Schreiber, Stefan S; Wijmenga, Cisca C; , ; , ; Rivas, Manuel A MA; Franke, Andre A; van Diemen, Cleo C CC; Weersma, Rinse K RK

Publication Date: 2016

Variant appearance in text: IL23R: 445G>A; Gly149Arg; rs76418789

PubMed Link: 27490946

Variant Present in the following documents:

• Main text
• pone.0159609.pdf

View BVdb publication page

---

IL23R (Interleukin 23 Receptor) Variants Protective against Inflammatory Bowel Diseases (IBD) Display Loss of Function due to Impaired Protein Stability and Intracellular Trafficking.

The Journal Of Biological Chemistry

Sivanesan, Durga D; Beauchamp, Claudine C; Quinou, Christiane C; Lee, Jonathan J; Lesage, Sylvie S; Chemtob, Sylvain S; Rioux, John D JD; Michnick, Stephen W SW

Publication Date: 2016-04-15

Variant appearance in text: IL23R: G149R

PubMed Link: 26887945

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis.

Plos One

Onodera, Kei K; Arimura, Yoshiaki Y; Isshiki, Hiroyuki H; Kawakami, Kentaro K; Nagaishi, Kanna K; Yamashita, Kentaro K; Yamamoto, Eiichiro E; Niinuma, Takeshi T; Naishiro, Yasuyoshi Y; Suzuki, Hiromu H; Imai, Kohzoh K; Shinomura, Yasuhisa Y

Publication Date: 2015

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 26375822

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Nature Genetics

Liu, Jimmy Z JZ; van Sommeren, Suzanne S; Huang, Hailiang H; Ng, Siew C SC; Alberts, Rudi R; Takahashi, Atsushi A; Ripke, Stephan S; Lee, James C JC; Jostins, Luke L; Shah, Tejas T; Abedian, Shifteh S; Cheon, Jae Hee JH; Cho, Judy J; Dayani, Naser E NE; Franke, Lude L; Fuyuno, Yuta Y; Hart, Ailsa A; Juyal, Ramesh C RC; Juyal, Garima G; Kim, Won Ho WH; Morris, Andrew P AP; Poustchi, Hossein H; Newman, William G WG; Midha, Vandana V; Orchard, Timothy R TR; Vahedi, Homayon H; Sood, Ajit A; Sung, Joseph Y JY; Malekzadeh, Reza R; Westra, Harm-Jan HJ; Yamazaki, Keiko K; Yang, Suk-Kyun SK; , ; , ; Barrett, Jeffrey C JC; Alizadeh, Behrooz Z BZ; Parkes, Miles M; Bk, Thelma T; Daly, Mark J MJ; Kubo, Michiaki M; Anderson, Carl A CA; Weersma, Rinse K RK

Publication Date: 2015-09

Variant appearance in text: rs76418789

PubMed Link: 26192919

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs76418789

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

---

Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.

Arthritis Research & Therapy

Wiley, Graham B GB; Kelly, Jennifer A JA; Gaffney, Patrick M PM

Publication Date: 2014

Variant appearance in text: IL23R: G149R

PubMed Link: 25789374

Variant Present in the following documents:

• Main text
• 13075_2014_Article_490.pdf

View BVdb publication page

---

Immunochip analysis identification of 6 additional susceptibility loci for Crohn's disease in Koreans.

Inflammatory Bowel Diseases

Yang, Suk-Kyun SK; Hong, Myunghee M; Choi, Hyunchul H; Zhao, Wanting W; Jung, Yusun Y; Haritunians, Talin T; Ye, Byong Duk BD; Kim, Kyung-Jo KJ; Park, Sang Hyoung SH; Lee, Inchul I; Kim, Won Ho WH; Cheon, Jae Hee JH; Kim, Young-Ho YH; Jang, Byung Ik BI; Kim, Hyun-Soo HS; Choi, Jai Hyun JH; Koo, Ja Seol JS; Lee, Ji Hyun JH; Jung, Sung-Ae SA; Shin, Hyoung Doo HD; Kang, Daehee D; Youn, Hee-Shang HS; Taylor, Kent D KD; Rotter, Jerome I JI; Liu, Jianjun J; McGovern, Dermot P B DP; Song, Kyuyoung K

Publication Date: 2015-01

Variant appearance in text: IL23R: Gly149Arg

PubMed Link: 25489960

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: IL23R: G149R; rs76418789

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.

Genome Biology And Evolution

Bai, Haihua H; Guo, Xiaosen X; Zhang, Dong D; Narisu, Narisu N; Bu, Junjie J; Jirimutu, Jirimutu J; Liang, Fan F; Zhao, Xiang X; Xing, Yanping Y; Wang, Dingzhu D; Li, Tongda T; Zhang, Yanru Y; Guan, Baozhu B; Yang, Xukui X; Yang, Zili Z; Shuangshan, Shuangshan S; Su, Zhe Z; Wu, Huiguang H; Li, Wenjing W; Chen, Ming M; Zhu, Shilin S; Bayinnamula, Bayinnamula B; Chang, Yuqi Y; Gao, Ying Y; Lan, Tianming T; Suyalatu, Suyalatu S; Huang, Hui H; Su, Yan Y; Chen, Yujie Y; Li, Wenqi W; Yang, Xu X; Feng, Qiang Q; Wang, Jian J; Yang, Huanming H; Wang, Jun J; Wu, Qizhu Q; Yin, Ye Y; Zhou, Huanmin H

Publication Date: 2014-11-05

Variant appearance in text: IL23R: 445G>A; Gly149Arg; rs76418789

PubMed Link: 25377941

Variant Present in the following documents:

• evu242.pdf

View BVdb publication page

---

Interleukin 23 in Crohn's disease.

Inflammatory Bowel Diseases

Eken, Ahmet A; Singh, Akhilesh K AK; Oukka, Mohamed M

Publication Date: 2014-03

Variant appearance in text: IL-23R: Gly149Arg

PubMed Link: 24481050

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.

Plos Genetics

Beaudoin, Mélissa M; Goyette, Philippe P; Boucher, Gabrielle G; Lo, Ken Sin KS; Rivas, Manuel A MA; Stevens, Christine C; Alikashani, Azadeh A; Ladouceur, Martin M; Ellinghaus, David D; Törkvist, Leif L; Goel, Gautam G; Lagacé, Caroline C; Annese, Vito V; Bitton, Alain A; Begun, Jakob J; Brant, Steve R SR; Bresso, Francesca F; Cho, Judy H JH; Duerr, Richard H RH; Halfvarson, Jonas J; McGovern, Dermot P B DP; Radford-Smith, Graham G; Schreiber, Stefan S; Schumm, Philip L PL; Sharma, Yashoda Y; Silverberg, Mark S MS; Weersma, Rinse K RK; , ; , ; , ; D'Amato, Mauro M; Vermeire, Severine S; Franke, Andre A; Lettre, Guillaume G; Xavier, Ramnik J RJ; Daly, Mark J MJ; Rioux, John D JD

Publication Date: 2013

Variant appearance in text: IL23R: Gly149Arg

PubMed Link: 24068945

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Correlations between psoriasis and inflammatory bowel diseases.

Biomed Research International

Skroza, Nevena N; Proietti, Ilaria I; Pampena, Riccardo R; La Viola, Giorgio G; Bernardini, Nicoletta N; Nicolucci, Francesca F; Tolino, Ersilia E; Zuber, Sara S; Soccodato, Valentina V; Potenza, Concetta C

Publication Date: 2013

Variant appearance in text: IL23R: G149R

PubMed Link: 23971052

Variant Present in the following documents:

• Main text
• BMRI2013-983902.pdf

View BVdb publication page

---

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

Nature Genetics

, ; Cortes, Adrian A; Hadler, Johanna J; Pointon, Jenny P JP; Robinson, Philip C PC; Karaderi, Tugce T; Leo, Paul P; Cremin, Katie K; Pryce, Karena K; Harris, Jessica J; Lee, Seunghun S; Joo, Kyung Bin KB; Shim, Seung-Cheol SC; Weisman, Michael M; Ward, Michael M; Zhou, Xiaodong X; Garchon, Henri-Jean HJ; Chiocchia, Gilles G; Nossent, Johannes J; Lie, Benedicte A BA; Førre, Øystein Ø; Tuomilehto, Jaakko J; Laiho, Kari K; Jiang, Lei L; Liu, Yu Y; Wu, Xin X; Bradbury, Linda A LA; Elewaut, Dirk D; Burgos-Vargas, Ruben R; Stebbings, Simon S; Appleton, Louise L; Farrah, Claire C; Lau, Jonathan J; Kenna, Tony J TJ; Haroon, Nigil N; Ferreira, Manuel A MA; Yang, Jian J; Mulero, Juan J; Fernandez-Sueiro, Jose Luis JL; Gonzalez-Gay, Miguel A MA; Lopez-Larrea, Carlos C; Deloukas, Panos P; Donnelly, Peter P; , ; , ; , ; , ; , ; Bowness, Paul P; Gafney, Karl K; Gaston, Hill H; Gladman, Dafna D DD; Rahman, Proton P; Maksymowych, Walter P WP; Xu, Huji H; Crusius, J Bart A JB; van der Horst-Bruinsma, Irene E IE; Chou, Chung-Tei CT; Valle-Oñate, Raphael R; Romero-Sánchez, Consuelo C; Hansen, Inger Myrnes IM; Pimentel-Santos, Fernando M FM; Inman, Robert D RD; Videm, Vibeke V; Martin, Javier J; Breban, Maxime M; Reveille, John D JD; Evans, David M DM; Kim, Tae-Hwan TH; Wordsworth, Bryan Paul BP; Brown, Matthew A MA

Publication Date: 2013-07

Variant appearance in text: IL23R: Gly149Arg; rs76418789

PubMed Link: 23749187

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kirino, Yohei Y; Zhou, Qing Q; Ishigatsubo, Yoshiaki Y; Mizuki, Nobuhisa N; Tugal-Tutkun, Ilknur I; Seyahi, Emire E; Özyazgan, Yilmaz Y; Ugurlu, Serdal S; Erer, Burak B; Abaci, Neslihan N; Ustek, Duran D; Meguro, Akira A; Ueda, Atsuhisa A; Takeno, Mitsuhiro M; Inoko, Hidetoshi H; Ombrello, Michael J MJ; Satorius, Colleen L CL; Maskeri, Baishali B; Mullikin, James C JC; Sun, Hong-Wei HW; Gutierrez-Cruz, Gustavo G; Kim, Yoonhee Y; Wilson, Alexander F AF; Kastner, Daniel L DL; Gül, Ahmet A; Remmers, Elaine F EF

Publication Date: 2013-05-14

Variant appearance in text: IL23R: Gly149Arg

PubMed Link: 23633568

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Nature Genetics

Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ

Publication Date: 2011-10-09

Variant appearance in text: IL23R: G149R

PubMed Link: 21983784

Variant Present in the following documents:

• Main text
• NIHMS335188-supplement-1.pdf
• nihms335188.pdf

View BVdb publication page

---