Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: FRZB: 970C>A; Arg324Ser; rs7775

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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: rs7775

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research

Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,

Publication Date: 2022-01-31

Variant appearance in text: rs7775

PubMed Link: 35101137

Variant Present in the following documents:

• 40001_2022_638_MOESM1_ESM.pdf

View BVdb publication page

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Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research

Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,

Publication Date: 2022-01-31

Variant appearance in text: rs7775

PubMed Link: 35101137

Variant Present in the following documents:

• 40001_2022_638_MOESM1_ESM.pdf

View BVdb publication page

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Association of AXIN2 s2240308 C>T, rs1133683 C>T, rs7224837 A>G Polymorphisms with Susceptibility to Breast Cancer.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Sayad, Soheila S; Abdi-Gamsae, Mahdieh M; Jafari-Nedooshan, Jamal J; Farbod, Meraj M; Dastgheib, Seyed Alireza SA; Karimi-Zarchi, Mojgan M; Asadian, Fatemeh F; Neamatzadeh, Hossein H

Publication Date: 2021-08-01

Variant appearance in text: rs7775

PubMed Link: 34452579

Variant Present in the following documents:

• Main text
• APJCP-22-2717.pdf

View BVdb publication page

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Genetics in Cartilage Lesions: Basic Science and Therapy Approaches.

International Journal Of Molecular Sciences

Szwedowski, Dawid D; Szczepanek, Joanna J; Paczesny, Łukasz Ł; Pękała, Przemysław P; Zabrzyński, Jan J; Kruczyński, Jacek J

Publication Date: 2020-07-30

Variant appearance in text: rs7775

PubMed Link: 32751537

Variant Present in the following documents:

• Main text
• ijms-21-05430.pdf

View BVdb publication page

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The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.

Calcified Tissue International

Wilkinson, J Mark JM; Zeggini, Eleftheria E

Publication Date: 2021-09

Variant appearance in text: rs7775

PubMed Link: 32393986

Variant Present in the following documents:

• Main text
• 223_2020_Article_702.pdf

View BVdb publication page

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Variations of Wnt/β-catenin pathway-related genes in susceptibility to knee osteoarthritis: A three-centre case-control study.

Journal Of Cellular And Molecular Medicine

Huang, Yong Y; Jiang, Lifeng L; Yang, Haoyu H; Wu, Lidong L; Xu, Nanwei N; Zhou, Xindie X; Li, Jin J

Publication Date: 2019-12

Variant appearance in text: rs7775

PubMed Link: 31560818

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in the WNT signaling pathway are protectively associated with colorectal cancer in a Saudi population.

Saudi Journal Of Biological Sciences

Parine, Narasimha Reddy NR; Azzam, Nahla A NA; Shaik, Jilani J; Aljebreen, Abdulrahman M AM; Alharbi, Othman O; Almadi, Majid A MA; Alanazi, Mohammad M; Khan, Zahid Z

Publication Date: 2019-02

Variant appearance in text: rs7775

PubMed Link: 31485167

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.

Molecular Genetics & Genomic Medicine

He, Xue X; Bai, Mei M; Liu, Ming M; Wang, Li L; He, Yongjun Y; Rong, Hao H; Yuan, Dongya D; Jin, Tianbo T

Publication Date: 2019-07

Variant appearance in text: rs7775

PubMed Link: 31066235

Variant Present in the following documents:

• Main text

View BVdb publication page

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Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.

Arthritis & Rheumatology (Hoboken, N.J.)

den Hollander, Wouter W; Pulyakhina, Irina I; Boer, Cindy C; Bomer, Nils N; van der Breggen, Ruud R; Arindrarto, Wibowo W; Couthino de Almeida, Rodrigo R; Lakenberg, Nico N; Sentner, Thom T; Laros, Jeroen F J JFJ; 't Hoen, Peter A C PAC; Slagboom, Eline P E EPE; Nelissen, Rob G H H RGHH; van Meurs, Joyce J; Ramos, Yolande F M YFM; Meulenbelt, Ingrid I

Publication Date: 2019-04

Variant appearance in text: rs7775

PubMed Link: 30298554

Variant Present in the following documents:

• Main text
• ART-71-561.pdf
• ART-71-561-s011.pdf
• ART-71-561-s012.pdf

View BVdb publication page

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Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.

European Journal Of Rheumatology

Diab, Safia M SM; Kamal, Howyda M HM; Mansour, Amira I AI; Fawzy, Rasha M RM; Azab, Basma S BS

Publication Date: 2017-09

Variant appearance in text: rs7775

PubMed Link: 28983412

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: FRZB: 970C>A; Arg324Ser

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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The etiology of primary femoroacetabular impingement: genetics or acquired deformity?

Journal Of Hip Preservation Surgery

Packer, Jonathan D JD; Safran, Marc R MR

Publication Date: 2015-10

Variant appearance in text: rs7775

PubMed Link: 27011846

Variant Present in the following documents:

• Main text

View BVdb publication page

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DVWA gene polymorphisms and osteoarthritis.

Bmc Research Notes

Bravatà, Valentina V; Minafra, Luigi L; Forte, Giusi I GI; Cammarata, Francesco P FP; Saporito, Michele M; Boniforti, Filippo F; Lio, Domenico D; Gilardi, Maria C MC; Messa, Cristina C

Publication Date: 2015-02-04

Variant appearance in text: rs7775

PubMed Link: 25648366

Variant Present in the following documents:

• Main text
• 13104_2015_Article_987.pdf

View BVdb publication page

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Wnt signaling pathway pharmacogenetics in non-small cell lung cancer.

The Pharmacogenomics Journal

Stewart, D J DJ; Chang, D W DW; Ye, Y Y; Spitz, M M; Lu, C C; Shu, X X; Wampfler, J A JA; Marks, R S RS; Garces, Y I YI; Yang, P P; Wu, X X

Publication Date: 2014-12

Variant appearance in text: rs7775

PubMed Link: 24980784

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic, clinical and radiographic signs in knee osteoarthritis susceptibility.

Arthritis Research & Therapy

Minafra, Luigi L; Bravatà, Valentina V; Saporito, Michele M; Cammarata, Francesco P FP; Forte, Giusi I GI; Caldarella, Salvatore S; D'Arienzo, Michele M; Gilardi, Maria C MC; Messa, Cristina C; Boniforti, Filippo F

Publication Date: 2014-04-09

Variant appearance in text: rs7775

PubMed Link: 24716474

Variant Present in the following documents:

• Main text
• ar4535.pdf

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Occupational and genetic risk factors for osteoarthritis: a review.

Work (Reading, Mass.)

Yucesoy, Berran B; Charles, Luenda E LE; Baker, Brent B; Burchfiel, Cecil M CM

Publication Date: 2015-01-01

Variant appearance in text: rs7775

PubMed Link: 24004806

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration.

The Open Orthopaedics Journal

Omair, Ahmad A; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI

Publication Date: 2012

Variant appearance in text: rs7775

PubMed Link: 22550553

Variant Present in the following documents:

• Main text
• TOORTHJ-6-164.pdf

View BVdb publication page

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Genetic variations in stem cell-related genes and colorectal cancer prognosis.

Journal Of Gastrointestinal Cancer

Yang, Hushan H; Qu, Falin F; Myers, Ronald E RE; Bao, Guoqiang G; Hyslop, Terry T; Hu, Guang G; Fei, Fei F; Xing, Jinliang J

Publication Date: 2012-12

Variant appearance in text: rs7775

PubMed Link: 22528324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.

Arthritis And Rheumatism

Evangelou, Evangelos E; Chapman, Kay K; Meulenbelt, Ingrid I; Karassa, Fotini B FB; Loughlin, John J; Carr, Andrew A; Doherty, Michael M; Doherty, Sally S; Gómez-Reino, Juan J JJ; Gonzalez, Antonio A; Halldorsson, Bjarni V BV; Hauksson, Valdimar B VB; Hofman, Albert A; Hart, Deborah J DJ; Ikegawa, Shiro S; Ingvarsson, Thorvaldur T; Jiang, Qing Q; Jonsdottir, Ingileif I; Jonsson, Helgi H; Kerkhof, Hanneke J M HJ; Kloppenburg, Margreet M; Lane, Nancy E NE; Li, Jia J; Lories, Rik J RJ; van Meurs, Joyce B J JB; Näkki, Annu A; Nevitt, Michael C MC; Rodriguez-Lopez, Julio J; Shi, Dongquan D; Slagboom, P Eline PE; Stefansson, Kari K; Tsezou, Aspasia A; Wallis, Gillian A GA; Watson, Christopher M CM; Spector, Tim D TD; Uitterlinden, Andre G AG; Valdes, Ana M AM; Ioannidis, John P A JP

Publication Date: 2009-06

Variant appearance in text: rs7775

PubMed Link: 19479880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeting the Wnt signaling pathway to augment bone formation.

Current Osteoporosis Reports

Shahnazari, Mohammad M; Yao, Wei W; Corr, Maripat M; Lane, Nancy E NE

Publication Date: 2008-12

Variant appearance in text: rs7775

PubMed Link: 19032924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

Calcified Tissue International

Tranah, Gregory J GJ; Taylor, Brent C BC; Lui, Li-Yung LY; Zmuda, Joseph M JM; Cauley, Jane A JA; Ensrud, Kristine E KE; Hillier, Teresa A TA; Hochberg, Marc C MC; Li, Jia J; Rhees, Brian K BK; Erlich, Henry A HA; Sternlicht, Mark D MD; Peltz, Gary G; Cummings, Steven R SR; ,

Publication Date: 2008-09

Variant appearance in text: rs7775

PubMed Link: 18787887

Variant Present in the following documents:

• Main text

View BVdb publication page

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