CARD9 c.126C>T ;(p.P42=)

Variant ID: 9-139266405-G-A

NM_052813.4(CARD9):c.126C>T;(p.P42=)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genetic and Epigenetic Etiology of Inflammatory Bowel Disease: An Update.

Genes
Jarmakiewicz-Czaja, Sara S; Zielińska, Magdalena M; Sokal, Aneta A; Filip, Rafał R
Publication Date: 2022-12-16

Variant appearance in text: rs10781499
PubMed Link: 36553655
Variant Present in the following documents:
  • Main text
  • genes-13-02388.pdf
View BVdb publication page



Newly Diagnosed Crohn's Disease Patients in India and Israel Display Distinct Presentations and Serological Markers: Insights from Prospective Cohorts.

Journal Of Clinical Medicine
Goren, Idan I; Sharar Fischler, Tali T; Yanai, Henit H; Pal, Partha P; Adigopula, Bhargavi B; Pendyala, Sushmitha S; Ganesh, Girish G; Vishnubhotla, Ravikanth R; Rabinowitz, Keren Masha KM; Shaham Barda, Efrat E; Yadamreddy, Durga D; Godny, Lihi L; Peleg, Noam N; Banerjee, Rupa R; Dotan, Iris I; ,
Publication Date: 2022-11-22

Variant appearance in text: rs10781499
PubMed Link: 36498474
Variant Present in the following documents:
  • jcm-11-06899.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: CARD9: P42P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: CARD9: P42P
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci.

Nature Communications
Yamaguchi, Kensuke K; Ishigaki, Kazuyoshi K; Suzuki, Akari A; Tsuchida, Yumi Y; Tsuchiya, Haruka H; Sumitomo, Shuji S; Nagafuchi, Yasuo Y; Miya, Fuyuki F; Tsunoda, Tatsuhiko T; Shoda, Hirofumi H; Fujio, Keishi K; Yamamoto, Kazuhiko K; Kochi, Yuta Y
Publication Date: 2022-08-24

Variant appearance in text: rs10781499
PubMed Link: 36002455
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32358.pdf
View BVdb publication page



CARD9 Signaling, Inflammation, and Diseases.

Frontiers In Immunology
Liu, Xuanyou X; Jiang, Bimei B; Hao, Hong H; Liu, Zhenguo Z
Publication Date: 2022

Variant appearance in text: rs10781499
PubMed Link: 35432375
Variant Present in the following documents:
  • Main text
  • fimmu-13-880879.pdf
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: CARD9: P42P
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

Gastroenterology Report
Ben-Yosef, Noam N; Frampton, Matthew M; Schiff, Elena R ER; Daher, Saleh S; Abu Baker, Fadi F; Safadi, Rifaat R; Israeli, Eran E; Segal, Anthony W AW; Levine, Adam P AP
Publication Date: 2021-12

Variant appearance in text: rs10781499
PubMed Link: 34925849
Variant Present in the following documents:
  • Main text
  • goab007.pdf
View BVdb publication page



The role and mechanism of CARD9 gene polymorphism in diseases.

Biomedical Journal
Ji, Changxue C; Yang, Zhiwen Z; Zhong, Xiaoming X; Xia, Jindong J
Publication Date: 2021-10

Variant appearance in text: rs10781499
PubMed Link: 34690098
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CARD9: 126C>T; P42P; rs10781499
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The role of mycobiota-genotype association in inflammatory bowel diseases: a narrative review.

Gut Pathogens
Mahmoudi, Elaheh E; Mozhgani, Sayed-Hamidreza SH; Sharifinejad, Niusha N
Publication Date: 2021-05-08

Variant appearance in text: rs10781499
PubMed Link: 33964975
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization as an approach to assess causal effects of inflammatory bowel disease on atrial fibrillation.

Aging
Chen, LaiTe L; Fu, GuoSheng G; Jiang, ChenYang C
Publication Date: 2021-04-06

Variant appearance in text: rs10781499
PubMed Link: 33824227
Variant Present in the following documents:
  • Main text
  • aging-13-202906.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs10781499
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The multifaceted role of CARD9 in inflammatory bowel disease.

Journal Of Cellular And Molecular Medicine
Luo, Ping P; Yang, Zhiwen Z; Chen, Bin B; Zhong, Xiaoming X
Publication Date: 2020-01

Variant appearance in text: rs10781499
PubMed Link: 31696662
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Adaptor Protein CARD9 in Colitis-Associated Cancer.

Molecular Therapy Oncolytics
Zhong, Xiaoming X; Chen, Bin B; Liu, Min M; Yang, Zhiwen Z
Publication Date: 2019-12-20

Variant appearance in text: rs10781499
PubMed Link: 31650020
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: CARD9: 126C>T; Pro42=; rs10781499
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



CARD9 Signaling in Intestinal Immune Homeostasis and Oncogenesis.

Frontiers In Immunology
Hartjes, Lara L; Ruland, Jürgen J
Publication Date: 2019

Variant appearance in text: rs10781499
PubMed Link: 30906296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Factors and the Intestinal Microbiome Guide Development of Microbe-Based Therapies for Inflammatory Bowel Diseases.

Gastroenterology
Cohen, Louis J LJ; Cho, Judy H JH; Gevers, Dirk D; Chu, Hiutung H
Publication Date: 2019-06

Variant appearance in text: rs10781499
PubMed Link: 30880022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic effects on the commensal microbiota in inflammatory bowel disease patients.

Plos Genetics
Aschard, Hugues H; Laville, Vincent V; Tchetgen, Eric Tchetgen ET; Knights, Dan D; Imhann, Floris F; Seksik, Philippe P; Zaitlen, Noah N; Silverberg, Mark S MS; Cosnes, Jacques J; Weersma, Rinse K RK; Xavier, Ramnik R; Beaugerie, Laurent L; Skurnik, David D; Sokol, Harry H
Publication Date: 2019-03

Variant appearance in text: rs10781499
PubMed Link: 30849075
Variant Present in the following documents:
  • Main text
  • pgen.1008018.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs10781499
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CARD9: 126C>T; rs10781499
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing.

Molecular Medicine Reports
Matalliotaki, Charoula C; Matalliotakis, Michail M; Zervou, Maria I MI; Trivli, Alexandra A; Matalliotakis, Ioannis I; Mavromatidis, George G; Spandidos, Demetrios A DA; Albertsen, Hans M HM; Chettier, Rakesh R; Ward, Kenneth K; Goulielmos, George N GN
Publication Date: 2018-12

Variant appearance in text: rs10781499
PubMed Link: 30272298
Variant Present in the following documents:
  • Main text
  • mmr-18-06-5053.pdf
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: CARD9: Pro42Pro; rs10781499
PubMed Link: 29930244
Variant Present in the following documents:
  • 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genes And Immunity
Shaw, Kelly A KA; Cutler, David J DJ; Okou, David D; Dodd, Anne A; Aronow, Bruce J BJ; Haberman, Yael Y; Stevens, Christine C; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen S; Dubinsky, Marla C MC; Shapiro, Jason M JM; Otley, Anthony R AR; Daly, Mark M; Denson, Lee A LA; Kugathasan, Subra S; Zwick, Michael E ME
Publication Date: 2019-02

Variant appearance in text: rs10781499
PubMed Link: 29593342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of Innate Lymphoid Cells by Aryl Hydrocarbon Receptor.

Frontiers In Immunology
Li, Shiyang S; Bostick, John W JW; Zhou, Liang L
Publication Date: 2017

Variant appearance in text: rs10781499
PubMed Link: 29354125
Variant Present in the following documents:
  • Main text
  • fimmu-08-01909.pdf
View BVdb publication page



Molecular and physiological roles of the adaptor protein CARD9 in immunity.

Cell Death & Disease
Zhong, Xiaoming X; Chen, Bin B; Yang, Liang L; Yang, Zhiwen Z
Publication Date: 2018-01-19

Variant appearance in text: rs10781499
PubMed Link: 29352133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Scientific Reports
Andreoletti, Gaia G; Shakhnovich, Valentina V; Christenson, Kathy K; Coelho, Tracy T; Haggarty, Rachel R; Afzal, Nadeem A NA; Batra, Akshay A; Petersen, Britt-Sabina BS; Mort, Matthew M; Beattie, R Mark RM; Ennis, Sarah S
Publication Date: 2017-04-19

Variant appearance in text: rs10781499
PubMed Link: 28422189
Variant Present in the following documents:
View BVdb publication page



Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort.

Clinical And Translational Gastroenterology
Damas, Oriana M OM; Gomez, Lissette L; Quintero, Maria A MA; Rampersaud, Evadnie E; Slifer, Susan S; Beecham, Gary W GW; Kerman, David H DH; Deshpande, Amar R AR; Sussman, Daniel A DA; Abreu, Maria T MT; McCauley, Jacob L JL
Publication Date: 2017-04-13

Variant appearance in text: rs10781499
PubMed Link: 28406493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease.

Gut
Imhann, Floris F; Vich Vila, Arnau A; Bonder, Marc Jan MJ; Fu, Jingyuan J; Gevers, Dirk D; Visschedijk, Marijn C MC; Spekhorst, Lieke M LM; Alberts, Rudi R; Franke, Lude L; van Dullemen, Hendrik M HM; Ter Steege, Rinze W F RWF; Huttenhower, Curtis C; Dijkstra, Gerard G; Xavier, Ramnik J RJ; Festen, Eleonora A M EAM; Wijmenga, Cisca C; Zhernakova, Alexandra A; Weersma, Rinse K RK
Publication Date: 2018-01

Variant appearance in text: rs10781499
PubMed Link: 27802154
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CARD9 Polymorphisms rs4077515, rs10870077 and rs10781499 Are Uncoupled from Susceptibility to and Severity of Pulmonary Tuberculosis.

Plos One
Streata, Ioana I; Weiner, January J; Iannaconne, Marco M; McEwen, Gayle G; Ciontea, Marius Sorin MS; Olaru, Marian M; Capparelli, Rosanna R; Ioana, Mihai M; Kaufmann, Stefan H E SH; Dorhoi, Anca A
Publication Date: 2016

Variant appearance in text: rs10781499
PubMed Link: 27684065
Variant Present in the following documents:
  • Main text
  • pone.0163662.pdf
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Publication Date: 2016-06-23

Variant appearance in text: rs10781499
PubMed Link: 27336838
Variant Present in the following documents:
  • Main text
  • ctg201634a.pdf
View BVdb publication page



CARD9 impacts colitis by altering gut microbiota metabolism of tryptophan into aryl hydrocarbon receptor ligands.

Nature Medicine
Lamas, Bruno B; Richard, Mathias L ML; Leducq, Valentin V; Pham, Hang-Phuong HP; Michel, Marie-Laure ML; Da Costa, Gregory G; Bridonneau, Chantal C; Jegou, Sarah S; Hoffmann, Thomas W TW; Natividad, Jane M JM; Brot, Loic L; Taleb, Soraya S; Couturier-Maillard, Aurélie A; Nion-Larmurier, Isabelle I; Merabtene, Fatiha F; Seksik, Philippe P; Bourrier, Anne A; Cosnes, Jacques J; Ryffel, Bernhard B; Beaugerie, Laurent L; Launay, Jean-Marie JM; Langella, Philippe P; Xavier, Ramnik J RJ; Sokol, Harry H
Publication Date: 2016-06

Variant appearance in text: rs10781499
PubMed Link: 27158904
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
Ye, Byong Duk BD; McGovern, Dermot P B DP
Publication Date: 2016-10

Variant appearance in text: rs10781499
PubMed Link: 27156530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

Nature Genetics
Ellinghaus, David D; Jostins, Luke L; Spain, Sarah L SL; Cortes, Adrian A; Bethune, Jörn J; Han, Buhm B; Park, Yu Rang YR; Raychaudhuri, Soumya S; Pouget, Jennie G JG; Hübenthal, Matthias M; Folseraas, Trine T; Wang, Yunpeng Y; Esko, Tonu T; Metspalu, Andres A; Westra, Harm-Jan HJ; Franke, Lude L; Pers, Tune H TH; Weersma, Rinse K RK; Collij, Valerie V; D'Amato, Mauro M; Halfvarson, Jonas J; Jensen, Anders Boeck AB; Lieb, Wolfgang W; Degenhardt, Franziska F; Forstner, Andreas J AJ; Hofmann, Andrea A; , ; , ; , ; , ; , ; Schreiber, Stefan S; Mrowietz, Ulrich U; Juran, Brian D BD; Lazaridis, Konstantinos N KN; Brunak, Søren S; Dale, Anders M AM; Trembath, Richard C RC; Weidinger, Stephan S; Weichenthal, Michael M; Ellinghaus, Eva E; Elder, James T JT; Barker, Jonathan N W N JN; Andreassen, Ole A OA; McGovern, Dermot P DP; Karlsen, Tom H TH; Barrett, Jeffrey C JC; Parkes, Miles M; Brown, Matthew A MA; Franke, Andre A
Publication Date: 2016-05

Variant appearance in text: rs10781499
PubMed Link: 26974007
Variant Present in the following documents:
  • NIHMS762030-supplement-1.pdf
View BVdb publication page



Fungal microbiota dysbiosis in IBD.

Gut
Sokol, Harry H; Leducq, Valentin V; Aschard, Hugues H; Pham, Hang-Phuong HP; Jegou, Sarah S; Landman, Cecilia C; Cohen, David D; Liguori, Giuseppina G; Bourrier, Anne A; Nion-Larmurier, Isabelle I; Cosnes, Jacques J; Seksik, Philippe P; Langella, Philippe P; Skurnik, David D; Richard, Mathias L ML; Beaugerie, Laurent L
Publication Date: 2017-06

Variant appearance in text: rs10781499
PubMed Link: 26843508
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association between CARD9 variants and inflammatory bowel disease was not replicated in a Chinese Han population.

International Journal Of Clinical And Experimental Pathology
Wang, Zhengting Z; Fan, Rong R; Wang, Lei L; Zhou, Jie J; Zheng, Sichang S; Hu, Shurong S; Chen, Mengmeng M; Zhang, Tianyu T; Lin, Yun Y; Zhang, Maochen M; Zhong, Jie J
Publication Date: 2015

Variant appearance in text: rs10781499
PubMed Link: 26722558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Publication Date: 2016-02

Variant appearance in text: CARD9: 126C>T; rs10781499
PubMed Link: 26680607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 2
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
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Genetics of Inflammatory Bowel Diseases.

Gastroenterology
McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH
Publication Date: 2015-10

Variant appearance in text: rs10781499
PubMed Link: 26255561
Variant Present in the following documents:
  • Main text
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Characterization of expression quantitative trait loci in the human colon.

Inflammatory Bowel Diseases
Singh, Tarjinder T; Levine, Adam P AP; Smith, Philip J PJ; Smith, Andrew M AM; Segal, Anthony W AW; Barrett, Jeffrey C JC
Publication Date: 2015-02

Variant appearance in text: rs10781499
PubMed Link: 25569741
Variant Present in the following documents:
  • ibd-21-251.pdf
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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: CARD9: P42P; rs10781499
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2014-11

Variant appearance in text: rs10781499
PubMed Link: 25305756
Variant Present in the following documents:
  • NIHMS630801-supplement-1.pdf
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SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.

Journal Of Crohn'S & Colitis
Fowler, Sharyle A SA; Ananthakrishnan, Ashwin N AN; Gardet, Agnes A; Stevens, Christine R CR; Korzenik, Joshua R JR; Sands, Bruce E BE; Daly, Mark J MJ; Xavier, Ramnik J RJ; Yajnik, Vijay V
Publication Date: 2014-08

Variant appearance in text: rs10781499
PubMed Link: 24461721
Variant Present in the following documents:
  • Main text
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: CARD9: P42P; rs10781499
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
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Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine.

Gastroenterology
Kabakchiev, Boyko B; Silverberg, Mark S MS
Publication Date: 2013-06

Variant appearance in text: rs10781499
PubMed Link: 23474282
Variant Present in the following documents:
  • Main text
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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Nature
Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH
Publication Date: 2012-11-01

Variant appearance in text: rs10781499
PubMed Link: 23128233
Variant Present in the following documents:
  • Main text
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Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci.

Plos One
Fransen, Karin K; Mitrovic, Mitja M; van Diemen, Cleo C CC; Thelma, B K BK; Sood, Ajit A; Franke, Andre A; Schreiber, Stefan S; Midha, Vandana V; Juyal, Garima G; Potocnik, Uros U; Fu, Jingyuan J; Nolte, Ilja I; Weersma, Rinse K RK
Publication Date: 2012

Variant appearance in text: rs10781499
PubMed Link: 23028907
Variant Present in the following documents:
  • Main text
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

Nature Genetics
Scott, Robert A RA; Lagou, Vasiliki V; Welch, Ryan P RP; Wheeler, Eleanor E; Montasser, May E ME; Luan, Jian'an J; Mägi, Reedik R; Strawbridge, Rona J RJ; Rehnberg, Emil E; Gustafsson, Stefan S; Kanoni, Stavroula S; Rasmussen-Torvik, Laura J LJ; Yengo, Loïc L; Lecoeur, Cecile C; Shungin, Dmitry D; Sanna, Serena S; Sidore, Carlo C; Johnson, Paul C D PC; Jukema, J Wouter JW; Johnson, Toby T; Mahajan, Anubha A; Verweij, Niek N; Thorleifsson, Gudmar G; Hottenga, Jouke-Jan JJ; Shah, Sonia S; Smith, Albert V AV; Sennblad, Bengt B; Gieger, Christian C; Salo, Perttu P; Perola, Markus M; Timpson, Nicholas J NJ; Evans, David M DM; Pourcain, Beate St BS; Wu, Ying Y; Andrews, Jeanette S JS; Hui, Jennie J; Bielak, Lawrence F LF; Zhao, Wei W; Horikoshi, Momoko M; Navarro, Pau P; Isaacs, Aaron A; O'Connell, Jeffrey R JR; Stirrups, Kathleen K; Vitart, Veronique V; Hayward, Caroline C; Esko, Tõnu T; Mihailov, Evelin E; Fraser, Ross M RM; Fall, Tove T; Voight, Benjamin F BF; Raychaudhuri, Soumya S; Chen, Han H; Lindgren, Cecilia M CM; Morris, Andrew P AP; Rayner, Nigel W NW; Robertson, Neil N; Rybin, Denis D; Liu, Ching-Ti CT; Beckmann, Jacques S JS; Willems, Sara M SM; Chines, Peter S PS; Jackson, Anne U AU; Kang, Hyun Min HM; Stringham, Heather M HM; Song, Kijoung K; Tanaka, Toshiko T; Peden, John F JF; Goel, Anuj A; Hicks, Andrew A AA; An, Ping P; Müller-Nurasyid, Martina M; Franco-Cereceda, Anders A; Folkersen, Lasse L; Marullo, Letizia L; Jansen, Hanneke H; Oldehinkel, Albertine J AJ; Bruinenberg, Marcel M; Pankow, James S JS; North, Kari E KE; Forouhi, Nita G NG; Loos, Ruth J F RJ; Edkins, Sarah S; Varga, Tibor V TV; Hallmans, Göran G; Oksa, Heikki H; Antonella, Mulas M; Nagaraja, Ramaiah R; Trompet, Stella S; Ford, Ian I; Bakker, Stephan J L SJ; Kong, Augustine A; Kumari, Meena M; Gigante, Bruna B; Herder, Christian C; Munroe, Patricia B PB; Caulfield, Mark M; Antti, Jula J; Mangino, Massimo M; Small, Kerrin K; Miljkovic, Iva I; Liu, Yongmei Y; Atalay, Mustafa M; Kiess, Wieland W; James, Alan L AL; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Palmer, Colin N A CN; Doney, Alex S F AS; Willemsen, Gonneke G; Smit, Johannes H JH; Campbell, Susan S; Polasek, Ozren O; Bonnycastle, Lori L LL; Hercberg, Serge S; Dimitriou, Maria M; Bolton, Jennifer L JL; Fowkes, Gerard R GR; Kovacs, Peter P; Lindström, Jaana J; Zemunik, Tatijana T; Bandinelli, Stefania S; Wild, Sarah H SH; Basart, Hanneke V HV; Rathmann, Wolfgang W; Grallert, Harald H; , ; Maerz, Winfried W; Kleber, Marcus E ME; Boehm, Bernhard O BO; Peters, Annette A; Pramstaller, Peter P PP; Province, Michael A MA; Borecki, Ingrid B IB; Hastie, Nicholas D ND; Rudan, Igor I; Campbell, Harry H; Watkins, Hugh H; Farrall, Martin M; Stumvoll, Michael M; Ferrucci, Luigi L; Waterworth, Dawn M DM; Bergman, Richard N RN; Collins, Francis S FS; Tuomilehto, Jaakko J; Watanabe, Richard M RM; de Geus, Eco J C EJ; Penninx, Brenda W BW; Hofman, Albert A; Oostra, Ben A BA; Psaty, Bruce M BM; Vollenweider, Peter P; Wilson, James F JF; Wright, Alan F AF; Hovingh, G Kees GK; Metspalu, Andres A; Uusitupa, Matti M; Magnusson, Patrik K E PK; Kyvik, Kirsten O KO; Kaprio, Jaakko J; Price, Jackie F JF; Dedoussis, George V GV; Deloukas, Panos P; Meneton, Pierre P; Lind, Lars L; Boehnke, Michael M; Shuldiner, Alan R AR; van Duijn, Cornelia M CM; Morris, Andrew D AD; Toenjes, Anke A; Peyser, Patricia A PA; Beilby, John P JP; Körner, Antje A; Kuusisto, Johanna J; Laakso, Markku M; Bornstein, Stefan R SR; Schwarz, Peter E H PE; Lakka, Timo A TA; Rauramaa, Rainer R; Adair, Linda S LS; Smith, George Davey GD; Spector, Tim D TD; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Gudnason, Vilmundur V; Kivimaki, Mika M; Hingorani, Aroon A; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Boomsma, Dorret I DI; Stefansson, Kari K; van der Harst, Pim P; Dupuis, Josée J; Pedersen, Nancy L NL; Sattar, Naveed N; Harris, Tamara B TB; Cucca, Francesco F; Ripatti, Samuli S; Salomaa, Veikko V; Mohlke, Karen L KL; Balkau, Beverley B; Froguel, Philippe P; Pouta, Anneli A; Jarvelin, Marjo-Riitta MR; Wareham, Nicholas J NJ; Bouatia-Naji, Nabila N; McCarthy, Mark I MI; Franks, Paul W PW; Meigs, James B JB; Teslovich, Tanya M TM; Florez, Jose C JC; Langenberg, Claudia C; Ingelsson, Erik E; Prokopenko, Inga I; Barroso, Inês I
Publication Date: 2012-09

Variant appearance in text: rs10781499
PubMed Link: 22885924
Variant Present in the following documents:
  • Main text
  • ukmss-49338.pdf
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Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

Journal Of Hepatology
Folseraas, Trine T; Melum, Espen E; Rausch, Philipp P; Juran, Brian D BD; Ellinghaus, Eva E; Shiryaev, Alexey A; Laerdahl, Jon K JK; Ellinghaus, David D; Schramm, Christoph C; Weismüller, Tobias J TJ; Gotthardt, Daniel Nils DN; Hov, Johannes Roksund JR; Clausen, Ole Petter OP; Weersma, Rinse K RK; Janse, Marcel M; Boberg, Kirsten Muri KM; Björnsson, Einar E; Marschall, Hanns-Ulrich HU; Cleynen, Isabelle I; Rosenstiel, Philip P; Holm, Kristian K; Teufel, Andreas A; Rust, Christian C; Gieger, Christian C; Wichmann, H-Erich HE; Bergquist, Annika A; Ryu, Euijung E; Ponsioen, Cyriel Y CY; Runz, Heiko H; Sterneck, Martina M; Vermeire, Severine S; Beuers, Ulrich U; Wijmenga, Cisca C; Schrumpf, Erik E; Manns, Michael P MP; Lazaridis, Konstantinos N KN; Schreiber, Stefan S; Baines, John F JF; Franke, Andre A; Karlsen, Tom H TH
Publication Date: 2012-08

Variant appearance in text: rs10781499
PubMed Link: 22521342
Variant Present in the following documents:
  • Main text
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Nature Genetics
Anderson, Carl A CA; Boucher, Gabrielle G; Lees, Charlie W CW; Franke, Andre A; D'Amato, Mauro M; Taylor, Kent D KD; Lee, James C JC; Goyette, Philippe P; Imielinski, Marcin M; Latiano, Anna A; Lagacé, Caroline C; Scott, Regan R; Amininejad, Leila L; Bumpstead, Suzannah S; Baidoo, Leonard L; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Colombel, Jean-Frédéric JF; Denson, Lee A LA; De Vos, Martine M; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Fehrmann, Rudolf S N RS; Floyd, James A B JA; Florin, Timothy T; Franchimont, Denis D; Franke, Lude L; Georges, Michel M; Glas, Jürgen J; Glazer, Nicole L NL; Guthery, Stephen L SL; Haritunians, Talin T; Hayward, Nicholas K NK; Hugot, Jean-Pierre JP; Jobin, Gilles G; Laukens, Debby D; Lawrance, Ian I; Lémann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; McGovern, Dermot P DP; Milla, Monica M; Montgomery, Grant W GW; Morley, Katherine I KI; Mowat, Craig C; Ng, Aylwin A; Newman, William W; Ophoff, Roel A RA; Papi, Laura L; Palmieri, Orazio O; Peyrin-Biroulet, Laurent L; Panés, Julián J; Phillips, Anne A; Prescott, Natalie J NJ; Proctor, Deborah D DD; Roberts, Rebecca R; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Schumm, Philip P; Seibold, Frank F; Sharma, Yashoda Y; Simms, Lisa A LA; Seielstad, Mark M; Steinhart, A Hillary AH; Targan, Stephan R SR; van den Berg, Leonard H LH; Vatn, Morten M; Verspaget, Hein H; Walters, Thomas T; Wijmenga, Cisca C; Wilson, David C DC; Westra, Harm-Jan HJ; Xavier, Ramnik J RJ; Zhao, Zhen Z ZZ; Ponsioen, Cyriel Y CY; Andersen, Vibeke V; Torkvist, Leif L; Gazouli, Maria M; Anagnou, Nicholas P NP; Karlsen, Tom H TH; Kupcinskas, Limas L; Sventoraityte, Jurgita J; Mansfield, John C JC; Kugathasan, Subra S; Silverberg, Mark S MS; Halfvarson, Jonas J; Rotter, Jerome I JI; Mathew, Christopher G CG; Griffiths, Anne M AM; Gearry, Richard R; Ahmad, Tariq T; Brant, Steven R SR; Chamaillard, Mathias M; Satsangi, Jack J; Cho, Judy H JH; Schreiber, Stefan S; Daly, Mark J MJ; Barrett, Jeffrey C JC; Parkes, Miles M; Annese, Vito V; Hakonarson, Hakon H; Radford-Smith, Graham G; Duerr, Richard H RH; Vermeire, Séverine S; Weersma, Rinse K RK; Rioux, John D JD
Publication Date: 2011-03

Variant appearance in text: rs10781499
PubMed Link: 21297633
Variant Present in the following documents:
  • Main text
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Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.

Genes And Immunity
Pointon, J J JJ; Harvey, D D; Karaderi, T T; Appleton, L H LH; Farrar, C C; Stone, M A MA; Sturrock, R D RD; Brown, M A MA; Wordsworth, B P BP
Publication Date: 2010-09

Variant appearance in text: rs10781499
PubMed Link: 20463747
Variant Present in the following documents:
  • Main text
  • ukmss-28653.pdf
View BVdb publication page