Publications:

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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: rs1372072

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.

Frontiers In Immunology

Mulinacci, Giacomo G; Palermo, Andrea A; Gerussi, Alessio A; Asselta, Rosanna R; Gershwin, Merrill Eric ME; Invernizzi, Pietro P

Publication Date: 2022

Variant appearance in text: rs1372072

PubMed Link: 36119102

Variant Present in the following documents:

• Main text
• fimmu-13-975115.pdf

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Association of rs4618210A>G variant in PLCL2 gene with myocardial infarction: A case-control study in Iran.

Journal Of Cardiovascular And Thoracic Research

Ramezanpour, Najmeh N; Nasiri, Mahboobeh M; Akbarpour, Omid Reza OR

Publication Date: 2020

Variant appearance in text: rs1372072

PubMed Link: 33510879

Variant Present in the following documents:

• Main text
• jcvtr-12-303.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1372072

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Primary biliary cirrhosis: Family, genes, and bugs.

Clinical Liver Disease

Mells, George F GF

Publication Date: 2014-04

Variant appearance in text: rs1372072

PubMed Link: 30992889

Variant Present in the following documents:

• Main text

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POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

Scientific Reports

Hitomi, Yuki Y; Ueno, Kazuko K; Kawai, Yosuke Y; Nishida, Nao N; Kojima, Kaname K; Kawashima, Minae M; Aiba, Yoshihiro Y; Nakamura, Hitomi H; Kouno, Hiroshi H; Kouno, Hirotaka H; Ohta, Hajime H; Sugi, Kazuhiro K; Nikami, Toshiki T; Yamashita, Tsutomu T; Katsushima, Shinji S; Komeda, Toshiki T; Ario, Keisuke K; Naganuma, Atsushi A; Shimada, Masaaki M; Hirashima, Noboru N; Yoshizawa, Kaname K; Makita, Fujio F; Furuta, Kiyoshi K; Kikuchi, Masahiro M; Naeshiro, Noriaki N; Takahashi, Hironao H; Mano, Yutaka Y; Yamashita, Haruhiro H; Matsushita, Kouki K; Tsunematsu, Seiji S; Yabuuchi, Iwao I; Nishimura, Hideo H; Shimada, Yusuke Y; Yamauchi, Kazuhiko K; Komatsu, Tatsuji T; Sugimoto, Rie R; Sakai, Hironori H; Mita, Eiji E; Koda, Masaharu M; Nakamura, Yoko Y; Kamitsukasa, Hiroshi H; Sato, Takeaki T; Nakamuta, Makoto M; Masaki, Naohiko N; Takikawa, Hajime H; Tanaka, Atsushi A; Ohira, Hiromasa H; Zeniya, Mikio M; Abe, Masanori M; Kaneko, Shuichi S; Honda, Masao M; Arai, Kuniaki K; Arinaga-Hino, Teruko T; Hashimoto, Etsuko E; Taniai, Makiko M; Umemura, Takeji T; Joshita, Satoru S; Nakao, Kazuhiko K; Ichikawa, Tatsuki T; Shibata, Hidetaka H; Takaki, Akinobu A; Yamagiwa, Satoshi S; Seike, Masataka M; Sakisaka, Shotaro S; Takeyama, Yasuaki Y; Harada, Masaru M; Senju, Michio M; Yokosuka, Osamu O; Kanda, Tatsuo T; Ueno, Yoshiyuki Y; Ebinuma, Hirotoshi H; Himoto, Takashi T; Murata, Kazumoto K; Shimoda, Shinji S; Nagaoka, Shinya S; Abiru, Seigo S; Komori, Atsumasa A; Migita, Kiyoshi K; Ito, Masahiro M; Yatsuhashi, Hiroshi H; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M

Publication Date: 2019-01-14

Variant appearance in text: rs1372072

PubMed Link: 30643196

Variant Present in the following documents:

• Main text
• 41598_2018_Article_36490.pdf

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Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.

Journal Of Immunology Research

Joshita, Satoru S; Umemura, Takeji T; Tanaka, Eiji E; Ota, Masao M

Publication Date: 2017

Variant appearance in text: rs1372072

PubMed Link: 28255561

Variant Present in the following documents:

• Main text
• JIR2017-3073504.pdf

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Genome-Wide Association Studies in Primary Biliary Cirrhosis.

Seminars In Liver Disease

Gulamhusein, Aliya F AF; Juran, Brian D BD; Lazaridis, Konstantinos N KN

Publication Date: 2015-11

Variant appearance in text: rs1372072

PubMed Link: 26676814

Variant Present in the following documents:

• Main text

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Genome-Wide Association Study Reveals Host Genetic Factors for Liver Diseases.

Journal Of Clinical And Translational Hepatology

Nishida, Nao N; Tokunaga, Katsushi K; Mizokami, Masashi M

Publication Date: 2013-09

Variant appearance in text: rs1372072

PubMed Link: 26357606

Variant Present in the following documents:

• Main text

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The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Journal Of Autoimmunity

Webb, G J GJ; Siminovitch, K A KA; Hirschfield, G M GM

Publication Date: 2015-11

Variant appearance in text: rs1372072

PubMed Link: 26250073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.

Nature Communications

Tsoi, Lam C LC; Spain, Sarah L SL; Ellinghaus, Eva E; Stuart, Philip E PE; Capon, Francesca F; Knight, Jo J; Tejasvi, Trilokraj T; Kang, Hyun M HM; Allen, Michael H MH; Lambert, Sylviane S; Stoll, Stefan W SW; Weidinger, Stephan S; Gudjonsson, Johann E JE; Koks, Sulev S; Kingo, Külli K; Esko, Tonu T; Das, Sayantan S; Metspalu, Andres A; Weichenthal, Michael M; Enerback, Charlotta C; Krueger, Gerald G GG; Voorhees, John J JJ; Chandran, Vinod V; Rosen, Cheryl F CF; Rahman, Proton P; Gladman, Dafna D DD; Reis, Andre A; Nair, Rajan P RP; Franke, Andre A; Barker, Jonathan N W N JNWN; Abecasis, Goncalo R GR; Trembath, Richard C RC; Elder, James T JT

Publication Date: 2015-05-05

Variant appearance in text: rs1372072

PubMed Link: 25939698

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy

Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y

Publication Date: 2015-03-21

Variant appearance in text: rs1372072

PubMed Link: 25880423

Variant Present in the following documents:

• Main text
• 13075_2015_Article_572.pdf

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The cumulative effects of known susceptibility variants to predict primary biliary cirrhosis risk.

Genes And Immunity

Tang, R R; Chen, H H; Miao, Q Q; Bian, Z Z; Ma, W W; Feng, X X; Seldin, M F MF; Invernizzi, P P; Gershwin, M E ME; Liao, W W; Ma, X X

Publication Date: 2015

Variant appearance in text: rs1372072

PubMed Link: 25569263

Variant Present in the following documents:

• Main text

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Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

American Journal Of Human Genetics

Li, Xin X; Battle, Alexis A; Karczewski, Konrad J KJ; Zappala, Zach Z; Knowles, David A DA; Smith, Kevin S KS; Kukurba, Kim R KR; Wu, Eric E; Simon, Noah N; Montgomery, Stephen B SB

Publication Date: 2014-09-04

Variant appearance in text: rs1372072

PubMed Link: 25192044

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics

Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA

Publication Date: 2011-03-13

Variant appearance in text: rs1372072

PubMed Link: 21399635

Variant Present in the following documents:

• Main text
• NIHMS34438-supplement-1.pdf

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