Publications:

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Deciphering the Genetic Code of Autoimmune Kidney Diseases.

Genes

Huang, Stephanie U-Shane SU; Kulatunge, Oneli O; O'Sullivan, Kim Maree KM

Publication Date: 2023-04-30

Variant appearance in text: rs2304256

PubMed Link: 37239388

Variant Present in the following documents:

• Main text
• genes-14-01028.pdf

View BVdb publication page

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Juvenile idiopathic inflammatory myositis: an update on pathophysiology and clinical care.

Nature Reviews. Rheumatology

Papadopoulou, Charalampia C; Chew, Christine C; Wilkinson, Meredyth G Ll MGL; McCann, Liza L; Wedderburn, Lucy R LR

Publication Date: 2023-05-15

Variant appearance in text: rs2304256

PubMed Link: 37188756

Variant Present in the following documents:

• Main text
• 41584_2023_Article_967.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: TYK2: V362F

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: TYK2: V362F; rs2304256

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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The genetic liability to rheumatoid arthritis may decrease hepatocellular carcinoma risk in East Asian population: a Mendelian randomization study.

Arthritis Research & Therapy

Zhang, Yuzhuo Y; Zhang, Yudong Y; He, Peng P; Ge, Fan F; Huo, Zhenyu Z; Qiao, Guibin G

Publication Date: 2023-03-27

Variant appearance in text: rs2304256

PubMed Link: 36973792

Variant Present in the following documents:

• Main text
• 13075_2023_Article_3029.pdf

View BVdb publication page

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TYK2 single-nucleotide variants associated with the severity of COVID-19 disease.

Archives Of Virology

Zabihi Rizi, Fateme F; Ghorbani, Atousa A; Zahtab, Parnia P; Darbaghshahi, Niloufar Naderi NN; Ataee, Nioosha N; Pourhamzeh, Pardis P; Hamzei, Behnaz B; Dolatabadi, Nasrin Fatahi NF; Zamani, Atefeh A; Hooshmand, Masoud M

Publication Date: 2023-03-23

Variant appearance in text: rs2304256

PubMed Link: 36959416

Variant Present in the following documents:

• Main text
• 705_2023_Article_5729.pdf

View BVdb publication page

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Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are Associated with Worse Clinical Outcomes in COVID-19.

Genes

Dieter, Cristine C; de Almeida Brondani, Leticia L; Lemos, Natália Emerim NE; Schaeffer, Ariell Freires AF; Zanotto, Caroline C; Ramos, Denise Taurino DT; Girardi, Eliandra E; Pellenz, Felipe Mateus FM; Camargo, Joiza Lins JL; Moresco, Karla Suzana KS; da Silva, Lucas Lima LL; Aubin, Mariana Rauback MR; de Oliveira, Mayara Souza MS; Rech, Tatiana Helena TH; Canani, Luís Henrique LH; Gerchman, Fernando F; Leitão, Cristiane Bauermann CB; Crispim, Daisy D

Publication Date: 2022-12-22

Variant appearance in text: rs2304256

PubMed Link: 36672770

Variant Present in the following documents:

• Main text
• genes-14-00029.pdf

View BVdb publication page

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Genetic association between the PTPN22, IRF5 and TYK2 gene variants and susceptibility to juvenile idiopathic arthritis.

Experimental And Therapeutic Medicine

Qian, Yufeng Y; Chen, Bingqian B; Wang, Zhengfei Z; Peng, Yuqin Y

Publication Date: 2022-12

Variant appearance in text: rs2304256

PubMed Link: 36605568

Variant Present in the following documents:

• Main text
• etm-24-06-11692.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2304256

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Shared genetic influences between blood analyte levels and risk of severe COVID-19.

Cell Reports

Tanha, Hamzeh M HM; Sathyanarayanan, Anita A; Mehta, Divya D; Nyholt, Dale R DR

Publication Date: 2022-11-22

Variant appearance in text: rs2304256

PubMed Link: 36400032

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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COVID-19 and systemic lupus erythematosus genetics: A balance between autoimmune disease risk and protection against infection.

Plos Genetics

Wang, Yuxuan Y; Guga, Suri S; Wu, Kejia K; Khaw, Zoe Z; Tzoumkas, Konstantinos K; Tombleson, Phil P; Comeau, Mary E ME; Langefeld, Carl D CD; Cunninghame Graham, Deborah S DS; Morris, David L DL; Vyse, Timothy J TJ

Publication Date: 2022-11

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 36327221

Variant Present in the following documents:

• Main text
• pgen.1010253.pdf

View BVdb publication page

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Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese.

Genes

Nhung, Vu Phuong VP; Ton, Nguyen Dang ND; Ngoc, Tran Thi Bich TTB; Thuong, Ma Thi Huyen MTH; Hai, Nguyen Thi Thanh NTT; Oanh, Kim Thi Phuong KTP; Hien, Le Thi Thu LTT; Thach, Pham Ngoc PN; Hai, Nong Van NV; Ha, Nguyen Hai NH

Publication Date: 2022-10-18

Variant appearance in text: TYK2: V362F

PubMed Link: 36292769

Variant Present in the following documents:

• Main text
• genes-13-01884.pdf

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2022-10-14

Variant appearance in text: TYK2: V362F

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 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_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted Sequencing of Cytokine-Induced PI3K-Related Genes in Ulcerative Colitis, Colorectal Cancer and Colitis-Associated Cancer.

International Journal Of Molecular Sciences

Razali, Nurul Nadirah NN; Raja Ali, Raja Affendi RA; Muhammad Nawawi, Khairul Najmi KN; Yahaya, Azyani A; Mokhtar, Norfilza M NM

Publication Date: 2022-09-29

Variant appearance in text: TYK2: 1084G>T; V362F; rs2304256

PubMed Link: 36232773

Variant Present in the following documents:

• Main text
• ijms-23-11472.pdf

View BVdb publication page

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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: TYK2: V362F; rs2304256

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: TYK2: 1084G>T; V362F; rs2304256

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.

Nature Communications

Khatri, Bhuwan B; Tessneer, Kandice L KL; Rasmussen, Astrid A; Aghakhanian, Farhang F; Reksten, Tove Ragna TR; Adler, Adam A; Alevizos, Ilias I; Anaya, Juan-Manuel JM; Aqrawi, Lara A LA; Baecklund, Eva E; Brun, Johan G JG; Bucher, Sara Magnusson SM; Eloranta, Maija-Leena ML; Engelke, Fiona F; Forsblad-d'Elia, Helena H; Glenn, Stuart B SB; Hammenfors, Daniel D; Imgenberg-Kreuz, Juliana J; Jensen, Janicke Liaaen JL; Johnsen, Svein Joar Auglænd SJA; Jonsson, Malin V MV; Kvarnström, Marika M; Kelly, Jennifer A JA; Li, He H; Mandl, Thomas T; Martín, Javier J; Nocturne, Gaétane G; Norheim, Katrine Brække KB; Palm, Øyvind Ø; Skarstein, Kathrine K; Stolarczyk, Anna M AM; Taylor, Kimberly E KE; Teruel, Maria M; Theander, Elke E; Venuturupalli, Swamy S; Wallace, Daniel J DJ; Grundahl, Kiely M KM; Hefner, Kimberly S KS; Radfar, Lida L; Lewis, David M DM; Stone, Donald U DU; Kaufman, C Erick CE; Brennan, Michael T MT; Guthridge, Joel M JM; James, Judith A JA; Scofield, R Hal RH; Gaffney, Patrick M PM; Criswell, Lindsey A LA; Jonsson, Roland R; Eriksson, Per P; Bowman, Simon J SJ; Omdal, Roald R; Rönnblom, Lars L; Warner, Blake B; Rischmueller, Maureen M; Witte, Torsten T; Farris, A Darise AD; Mariette, Xavier X; Alarcon-Riquelme, Marta E ME; , ; Shiboski, Caroline H CH; , ; Wahren-Herlenius, Marie M; Ng, Wan-Fai WF; , ; Sivils, Kathy L KL; Adrianto, Indra I; Nordmark, Gunnel G; Lessard, Christopher J CJ

Publication Date: 2022-07-27

Variant appearance in text: rs2304256

PubMed Link: 35896530

Variant Present in the following documents:

• Main text
• 41467_2022_Article_30773.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Combining explainable machine learning, demographic and multi-omic data to inform precision medicine strategies for inflammatory bowel disease.

Plos One

Gardiner, Laura-Jayne LJ; Carrieri, Anna Paola AP; Bingham, Karen K; Macluskie, Graeme G; Bunton, David D; McNeil, Marian M; Pyzer-Knapp, Edward O EO

Publication Date: 2022

Variant appearance in text: rs2304256

PubMed Link: 35196350

Variant Present in the following documents:

• Main text
• pone.0263248.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: TYK2: V362F

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

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Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

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Type I Interferon and the Spectrum of Susceptibility to Viral Infection and Autoimmune Disease: A Shared Genomic Signature.

Frontiers In Immunology

Sugrue, Jamie A JA; Bourke, Nollaig M NM; O'Farrelly, Cliona C

Publication Date: 2021

Variant appearance in text: TYK2: Val362Phe

PubMed Link: 34917078

Variant Present in the following documents:

• Main text
• fimmu-12-757249.pdf

View BVdb publication page

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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Human Genetics

Fallerini, Chiara C; Picchiotti, Nicola N; Baldassarri, Margherita M; Zguro, Kristina K; Daga, Sergio S; Fava, Francesca F; Benetti, Elisa E; Amitrano, Sara S; Bruttini, Mirella M; Palmieri, Maria M; Croci, Susanna S; Lista, Mirjam M; Beligni, Giada G; Valentino, Floriana F; Meloni, Ilaria I; Tanfoni, Marco M; Minnai, Francesca F; Colombo, Francesca F; Cabri, Enrico E; Fratelli, Maddalena M; Gabbi, Chiara C; Mantovani, Stefania S; Frullanti, Elisa E; Gori, Marco M; Crawley, Francis P FP; Butler-Laporte, Guillaume G; Richards, Brent B; Zeberg, Hugo H; Lipcsey, Miklos M; Hultström, Michael M; Ludwig, Kerstin U KU; Schulte, Eva C EC; Pairo-Castineira, Erola E; Baillie, John Kenneth JK; Schmidt, Axel A; Frithiof, Robert R; , ; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Furini, Simone S

Publication Date: 2022-01

Variant appearance in text: TYK2: Val362Phe; rs2304256

PubMed Link: 34889978

Variant Present in the following documents:

• 439_2021_2397_MOESM19_ESM.xlsx, sheet 1

View BVdb publication page

---

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Human Genetics

Fallerini, Chiara C; Picchiotti, Nicola N; Baldassarri, Margherita M; Zguro, Kristina K; Daga, Sergio S; Fava, Francesca F; Benetti, Elisa E; Amitrano, Sara S; Bruttini, Mirella M; Palmieri, Maria M; Croci, Susanna S; Lista, Mirjam M; Beligni, Giada G; Valentino, Floriana F; Meloni, Ilaria I; Tanfoni, Marco M; Minnai, Francesca F; Colombo, Francesca F; Cabri, Enrico E; Fratelli, Maddalena M; Gabbi, Chiara C; Mantovani, Stefania S; Frullanti, Elisa E; Gori, Marco M; Crawley, Francis P FP; Butler-Laporte, Guillaume G; Richards, Brent B; Zeberg, Hugo H; Lipcsey, Miklos M; Hultström, Michael M; Ludwig, Kerstin U KU; Schulte, Eva C EC; Pairo-Castineira, Erola E; Baillie, John Kenneth JK; Schmidt, Axel A; Frithiof, Robert R; , ; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Furini, Simone S

Publication Date: 2021-12-10

Variant appearance in text: TYK2: Val362Phe; rs2304256

PubMed Link: 34889978

Variant Present in the following documents:

• 439_2021_2397_MOESM19_ESM.xlsx, sheet 1

View BVdb publication page

---

JAK inhibitors: a potential treatment for JDM in the context of the role of interferon-driven pathology.

Pediatric Rheumatology Online Journal

Ll Wilkinson, Meredyth G MG; Deakin, Claire T CT; Papadopoulou, Charalampia C; Eleftheriou, Despina D; Wedderburn, Lucy R LR

Publication Date: 2021-09-25

Variant appearance in text: rs2304256

PubMed Link: 34563217

Variant Present in the following documents:

• Main text
• 12969_2021_Article_637.pdf

View BVdb publication page

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TYK2 in Cancer Metastases: Genomic and Proteomic Discovery.

Cancers

Borcherding, Dana C DC; He, Kevin K; Amin, Neha V NV; Hirbe, Angela C AC

Publication Date: 2021-08-19

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 34439323

Variant Present in the following documents:

• Main text
• cancers-13-04171.pdf

View BVdb publication page

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From Science to Success? Targeting Tyrosine Kinase 2 in Spondyloarthritis and Related Chronic Inflammatory Diseases.

Frontiers In Genetics

Hromadová, Dominika D; Elewaut, Dirk D; Inman, Robert D RD; Strobl, Birgit B; Gracey, Eric E

Publication Date: 2021

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 34290741

Variant Present in the following documents:

• Main text
• fgene-12-685280.pdf

View BVdb publication page

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Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population.

Frontiers In Immunology

Liu, Chenxi C; Yan, Songxin S; Chen, Haizhen H; Wu, Ziyan Z; Li, Liubing L; Cheng, Linlin L; Li, Haolong H; Li, Yongzhe Y

Publication Date: 2021

Variant appearance in text: TYK2: 1084G>T; Val362Phe; rs2304256

PubMed Link: 34248934

Variant Present in the following documents:

• Main text

View BVdb publication page

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The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus.

Diabetes & Metabolism Journal

Pellenz, Felipe Mateus FM; Dieter, Cristine C; Duarte, Guilherme Coutinho Kullmann GCK; Canani, Luís Henrique LH; de Souza, Bianca Marmontel BM; Crispim, Daisy D

Publication Date: 2021-11

Variant appearance in text: TYK2: Val362Phe; rs2304256

PubMed Link: 34225445

Variant Present in the following documents:

• Main text
• dmj-2020-0194.pdf

View BVdb publication page

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The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus.

Diabetes & Metabolism Journal

Pellenz, Felipe Mateus FM; Dieter, Cristine C; Duarte, Guilherme Coutinho Kullmann GCK; Canani, Luís Henrique LH; de Souza, Bianca Marmontel BM; Crispim, Daisy D

Publication Date: 2021-11

Variant appearance in text: TYK2: Val362Phe; rs2304256

PubMed Link: 34225445

Variant Present in the following documents:

• Main text
• dmj-2020-0194.pdf

View BVdb publication page

---

Updates on genetics in systemic sclerosis.

Inflammation And Regeneration

Ota, Yuko Y; Kuwana, Masataka M

Publication Date: 2021-06-15

Variant appearance in text: rs2304256

PubMed Link: 34130729

Variant Present in the following documents:

• Main text
• 41232_2021_Article_167.pdf

View BVdb publication page

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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology

Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,

Publication Date: 2021-09

Variant appearance in text: rs2304256

PubMed Link: 34033851

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology

Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,

Publication Date: 2021-09

Variant appearance in text: rs2304256

PubMed Link: 34033851

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis.

Lupus

Kawai, Vivian K VK; Shi, Mingjian M; Liu, Ge G; Feng, QiPing Q; Wei, WeiQi W; Chung, Cecilia P CP; Walunas, Theresa L TL; Gordon, Adam S AS; Linneman, James G JG; Hebbring, Scott J SJ; Harley, John B JB; Cox, Nancy J NJ; Roden, Dan M DM; Stein, C Michael CM; Mosley, Jonathan D JD

Publication Date: 2021-07

Variant appearance in text: rs2304256

PubMed Link: 33977795

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of TYK2 polymorphisms with autoimmune diseases: A comprehensive and updated systematic review with meta-analysis.

Genetics And Molecular Biology

Pellenz, Felipe Mateus FM; Dieter, Cristine C; Lemos, Natália Emerim NE; Bauer, Andrea Carla AC; Souza, Bianca Marmontel de BM; Crispim, Daisy D

Publication Date: 2021

Variant appearance in text: rs2304256

PubMed Link: 33949620

Variant Present in the following documents:

• Main text

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Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis.

International Journal Of Molecular Medicine

Papageorgiou, Louis L; Zervou, Maria I MI; Vlachakis, Dimitrios D; Matalliotakis, Michail M; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Goulielmos, George N GN; Eliopoulos, Elias E

Publication Date: 2021-06

Variant appearance in text: rs2304256

PubMed Link: 33907838

Variant Present in the following documents:

• Main text

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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: TYK2: V362F; rs2304256

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Systemic Lupus Erythematosus in Children and Young People.

Current Rheumatology Reports

Charras, A A; Smith, E E; Hedrich, C M CM

Publication Date: 2021-02-10

Variant appearance in text: rs2304256

PubMed Link: 33569643

Variant Present in the following documents:

• Main text
• 11926_2021_Article_985.pdf

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Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups.

Nature Communications

Wang, Yong-Fei YF; Zhang, Yan Y; Lin, Zhiming Z; Zhang, Huoru H; Wang, Ting-You TY; Cao, Yujie Y; Morris, David L DL; Sheng, Yujun Y; Yin, Xianyong X; Zhong, Shi-Long SL; Gu, Xiaoqiong X; Lei, Yao Y; He, Jing J; Wu, Qi Q; Shen, Jiangshan Jane JJ; Yang, Jing J; Lam, Tai-Hing TH; Lin, Jia-Huang JH; Mai, Zhi-Ming ZM; Guo, Mengbiao M; Tang, Yuanjia Y; Chen, Yanhui Y; Song, Qin Q; Ban, Bo B; Mok, Chi Chiu CC; Cui, Yong Y; Lu, Liangjing L; Shen, Nan N; Sham, Pak C PC; Lau, Chak Sing CS; Smith, David K DK; Vyse, Timothy J TJ; Zhang, Xuejun X; Lau, Yu Lung YL; Yang, Wanling W

Publication Date: 2021-02-03

Variant appearance in text: rs2304256

PubMed Link: 33536424

Variant Present in the following documents:

• Main text
• 41467_2021_Article_21049.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2304256

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: TYK2: V362F; rs2304256

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

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Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis.

Journal Of Personalized Medicine

Verbenko, Dmitry A DA; Karamova, Arfenya E AE; Artamonova, Olga G OG; Deryabin, Dmitry G DG; Rakitko, Alexander A; Chernitsov, Alexandr A; Krasnenko, Anna A; Elmuratov, Artem A; Solomka, Victoria S VS; Kubanov, Alexey A AA

Publication Date: 2020-12-29

Variant appearance in text: rs2304256

PubMed Link: 33383665

Variant Present in the following documents:

• Main text
• jpm-11-00020.pdf

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: TYK2: V362F

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: TYK2: 1084G>T; Val362Phe

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

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