Publications:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: PTPN22: 2134+43A>C; rs3761935

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: PTPN22: 2134+43A>C; rs3761935

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: PTPN22: 2134+43A>C; rs3761935

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs3761935

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Influence of molecular genetics in Vogt-Koyanagi-Harada disease.

Journal Of Ophthalmic Inflammation And Infection

Ng, Joanne Yw JY; Luk, Fiona Oj FO; Lai, Timothy Yy TY; Pang, Chi-Pui CP

Publication Date: 2014

Variant appearance in text: rs3761935

PubMed Link: 25097674

Variant Present in the following documents:

• Main text

View BVdb publication page

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A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.

Plos One

Zhang, Qi Q; Qi, Jian J; Hou, Shengping S; Du, Liping L; Yu, Hongsong H; Cao, Qingfeng Q; Zhou, Yan Y; Liao, Dan D; Kijlstra, Aize A; Yang, Peizeng P

Publication Date: 2014

Variant appearance in text: rs3761935

PubMed Link: 24816862

Variant Present in the following documents:

• Main text
• pone.0096943.pdf

View BVdb publication page

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Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Molecular Vision

Horie, Yukihiro Y; Kitaichi, Nobuyoshi N; Katsuyama, Yoshihiko Y; Yoshida, Kazuhiko K; Miura, Toshie T; Ota, Masao M; Asukata, Yuri Y; Inoko, Hidetoshi H; Mizuki, Nobuhisa N; Ishida, Susumu S; Ohno, Shigeaki S

Publication Date: 2009-06-03

Variant appearance in text: rs3761935

PubMed Link: 19503742

Variant Present in the following documents:

• Main text
• mv-v15-1115.pdf

View BVdb publication page

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Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

Arthritis And Rheumatism

Lee, Hye-Soon HS; Korman, Benjamin D BD; Le, Julie M JM; Kastner, Daniel L DL; Remmers, Elaine F EF; Gregersen, Peter K PK; Bae, Sang-Cheol SC

Publication Date: 2009-02

Variant appearance in text: rs3761935

PubMed Link: 19180477

Variant Present in the following documents:

• Main text

View BVdb publication page

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PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

American Journal Of Human Genetics

Carlton, Victoria E H VE; Hu, Xiaolan X; Chokkalingam, Anand P AP; Schrodi, Steven J SJ; Brandon, Rhonda R; Alexander, Heather C HC; Chang, Monica M; Catanese, Joseph J JJ; Leong, Diane U DU; Ardlie, Kristin G KG; Kastner, Daniel L DL; Seldin, Michael F MF; Criswell, Lindsey A LA; Gregersen, Peter K PK; Beasley, Ellen E; Thomson, Glenys G; Amos, Christopher I CI; Begovich, Ann B AB

Publication Date: 2005-10

Variant appearance in text: rs3761935

PubMed Link: 16175503

Variant Present in the following documents:

• Main text

View BVdb publication page

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