Publications:

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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: IRGM: T94K; rs72553867

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Immunity-related GTPase IRGM at the intersection of autophagy, inflammation, and tumorigenesis.

Inflammation Research : Official Journal Of The European Histamine Research Society ... [Et Al.]

Goswami, Apeksha Bharatgiri AB; Karadarević, Dimitrije D; Castaño-Rodríguez, Natalia N

Publication Date: 2022-08

Variant appearance in text: rs72553867

PubMed Link: 35699756

Variant Present in the following documents:

• Main text
• 11_2022_Article_1595.pdf

View BVdb publication page

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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: IRGM: T94K; rs72553867

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

International Journal Of Molecular Sciences

Tamargo-Gómez, Isaac I; Fernández, Álvaro F ÁF; Mariño, Guillermo G

Publication Date: 2020-11-02

Variant appearance in text: rs72553867

PubMed Link: 33147747

Variant Present in the following documents:

• Main text
• ijms-21-08196.pdf

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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: rs72553867

PubMed Link: 31844038

Variant Present in the following documents:

• Main text
• medscimonit-25-9637.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: IRGM: T94K; rs72553867

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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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: IRGM: 281C>A; T94K; rs72553867

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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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: IRGM: Thr94Lys; rs72553867

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Association between IRGM polymorphisms and tuberculosis risk: A meta-analysis.

Medicine

Xie, Haojun H; Li, Chufang C; Zhang, Mincong M; Zhong, Nanshan N; Chen, Ling L

Publication Date: 2017-10

Variant appearance in text: rs72553867

PubMed Link: 29068986

Variant Present in the following documents:

• Main text
• medi-96-e8189.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs72553867

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: IRGM: T94K

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs72553867

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: IRGM: T94K; rs72553867

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IRGM: T94K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: IRGM: T94K; rs72553867

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: IRGM: T94K; rs72553867

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Association of IRGM gene mutations with inflammatory bowel disease in the Indian population.

Plos One

Baskaran, Kirankumar K; Pugazhendhi, Srinivasan S; Ramakrishna, Balakrishnan S BS

Publication Date: 2014

Variant appearance in text: rs72553867

PubMed Link: 25191865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammatory bowel disease in pediatric and adolescent patients: a biomolecular and histopathological review.

World Journal Of Gastroenterology

Rigoli, Luciana L; Caruso, Rosario Alberto RA

Publication Date: 2014-08-14

Variant appearance in text: rs72553867

PubMed Link: 25132743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biomarkers of inflammatory bowel disease.

Disease Markers

Fengming, Yi Y; Jianbing, Wu W

Publication Date: 2014

Variant appearance in text: rs72553867

PubMed Link: 24963213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of genetic variants of autophagy genes in susceptibility for non-medullary thyroid cancer and patients outcome.

Plos One

Plantinga, Theo S TS; van de Vosse, Esther E; Huijbers, Angelique A; Netea, Mihai G MG; Joosten, Leo A B LA; Smit, Jan W A JW; Netea-Maier, Romana T RT

Publication Date: 2014

Variant appearance in text: IRGM: Thr94Lys; rs72553867

PubMed Link: 24739953

Variant Present in the following documents:

• Main text
• pone.0094086.pdf

View BVdb publication page

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Polymorphisms in autophagy genes and susceptibility to tuberculosis.

Plos One

Songane, Mario M; Kleinnijenhuis, Johanneke J; Alisjahbana, Bachti B; Sahiratmadja, Edhyana E; Parwati, Ida I; Oosting, Marije M; Plantinga, Theo S TS; Joosten, Leo A B LA; Netea, Mihai G MG; Ottenhoff, Tom H M TH; van de Vosse, Esther E; van Crevel, Reinout R

Publication Date: 2012

Variant appearance in text: rs72553867

PubMed Link: 22879892

Variant Present in the following documents:

• Main text
• pone.0041618.pdf

View BVdb publication page

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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: IRGM: Thr94Lys; rs72553867

PubMed Link: 21983784

Variant Present in the following documents:

• NIHMS335188-supplement-1.pdf

View BVdb publication page

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Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

Human Molecular Genetics

Prescott, Natalie J NJ; Dominy, Katherine M KM; Kubo, Michiaki M; Lewis, Cathryn M CM; Fisher, Sheila A SA; Redon, Richard R; Huang, Ni N; Stranger, Barbara E BE; Blaszczyk, Katarzyna K; Hudspith, Barry B; Parkes, Gareth G; Hosono, Naoya N; Yamazaki, Keiko K; Onnie, Clive M CM; Forbes, Alastair A; Dermitzakis, Emmanouil T ET; Nakamura, Yusuke Y; Mansfield, John C JC; Sanderson, Jeremy J; Hurles, Matthew E ME; Roberts, Roland G RG; Mathew, Christopher G CG

Publication Date: 2010-05-01

Variant appearance in text: IRGM: T94K

PubMed Link: 20106866

Variant Present in the following documents:

• Main text
• ddq041.pdf

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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Nature Genetics

Parkes, Miles M; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Anderson, Carl A CA; Fisher, Sheila A SA; Roberts, Roland G RG; Nimmo, Elaine R ER; Cummings, Fraser R FR; Soars, Dianne D; Drummond, Hazel H; Lees, Charlie W CW; Khawaja, Saud A SA; Bagnall, Richard R; Burke, Denis A DA; Todhunter, Catherine E CE; Ahmad, Tariq T; Onnie, Clive M CM; McArdle, Wendy W; Strachan, David D; Bethel, Graeme G; Bryan, Claire C; Lewis, Cathryn M CM; Deloukas, Panos P; Forbes, Alastair A; Sanderson, Jeremy J; Jewell, Derek P DP; Satsangi, Jack J; Mansfield, John C JC; , ; Cardon, Lon L; Mathew, Christopher G CG

Publication Date: 2007-07

Variant appearance in text: IRGM: 281C>A

PubMed Link: 17554261

Variant Present in the following documents:

• Main text

View BVdb publication page

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