Publications:

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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: FRZB: R324G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FRZB: 970C>G; Arg324Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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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: N/A

PubMed Link: 36755093

Variant Present in the following documents:

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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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: FRZB: R324G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

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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Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.

Aging

Xu, Renjie R; Zhang, Fei F; Lu, Junlan J; Wang, Kexin K; Pan, Peng P; Sun, Ye Y; Zhang, Yuxin Y

Publication Date: 2021-04-04

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 33820867

Variant Present in the following documents:

• Main text
• aging-13-202815.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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INHIBITION OF WINGLESS-RELATED INTEGRATION SITE (WNT) SIGNALLING MAY TREAT OSTEOARTHRITIS OF THE KNEE.

Transactions Of The American Clinical And Climatological Association

Lane, Nancy E NE

Publication Date: 2020

Variant appearance in text: FRZB: Arg324Gly

PubMed Link: 32675843

Variant Present in the following documents:

• Main text

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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: FRZB: R324G

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

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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Association of Selenoprotein and Selenium Pathway Genotypes with Risk of Colorectal Cancer and Interaction with Selenium Status.

Nutrients

Fedirko, Veronika V; Jenab, Mazda M; Méplan, Catherine C; Jones, Jeb S JS; Zhu, Wanzhe W; Schomburg, Lutz L; Siddiq, Afshan A; Hybsier, Sandra S; Overvad, Kim K; Tjønneland, Anne A; Omichessan, Hanane H; Perduca, Vittorio V; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Katzke, Verena V; Aleksandrova, Krasimira K; Trichopoulou, Antonia A; Karakatsani, Anna A; Kotanidou, Anastasia A; Tumino, Rosario R; Panico, Salvatore S; Masala, Giovanna G; Agnoli, Claudia C; Naccarati, Alessio A; Bueno-de-Mesquita, Bas B; Vermeulen, Roel C H RCH; Weiderpass, Elisabete E; Skeie, Guri G; Nøst, Therese Haugdahl TH; Lujan-Barroso, Leila L; Quirós, J Ramón JR; Huerta, José María JM; Rodríguez-Barranco, Miguel M; Barricarte, Aurelio A; Gylling, Björn B; Harlid, Sophia S; Bradbury, Kathryn E KE; Wareham, Nick N; Khaw, Kay-Tee KT; Gunter, Marc M; Murphy, Neil N; Freisling, Heinz H; Tsilidis, Kostas K; Aune, Dagfinn D; Riboli, Elio E; Hesketh, John E JE; Hughes, David J DJ

Publication Date: 2019-04-25

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 31027226

Variant Present in the following documents:

• Main text
• nutrients-11-00935.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: FRZB: R324G; rs7775

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: FRZB: 970C>G; rs7775

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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-s012.pdf
• ART-71-561-s011.pdf

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

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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Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.

Bmc Medical Genetics

Tai, Zhengfu Z; Huang, Lulin L; Lu, Fang F; Shi, Yi Y; Ma, Shi S; Cheng, Jing J; Lin, He H; Liu, Xin X; Li, Yuanfeng Y; Yang, Zhenglin Z

Publication Date: 2017-06-26

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 28651521

Variant Present in the following documents:

• Main text
• 12881_2017_Article_423.pdf

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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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: FRZB: R324G; rs7775

PubMed Link: 26549847

Variant Present in the following documents:

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

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: FRZB: R324G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Genetic polymorphism in extracellular regulators of Wnt signaling pathway.

Biomed Research International

Sharma, Garima G; Sharma, Ashish Ranjan AR; Seo, Eun-Min EM; Nam, Ju-Suk JS

Publication Date: 2015

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 25945348

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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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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: FRZB: R324G; rs7775

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: FRZB: R324G

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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Osteoarthritis pathogenesis: a review of molecular mechanisms.

Calcified Tissue International

Xia, Bingjiang B; Di Chen, ; Zhang, Jushi J; Hu, Songfeng S; Jin, Hongting H; Tong, Peijian P

Publication Date: 2014-12

Variant appearance in text: FRZB: Arg324Gly

PubMed Link: 25311420

Variant Present in the following documents:

• Main text

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

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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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An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Biodata Mining

Preeprem, Thanawadee T; Gibson, Greg G

Publication Date: 2013-12-23

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 24365473

Variant Present in the following documents:

• Main text
• 1756-0381-6-24.pdf

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: FRZB: 970C>G; Arg324Gly; rs7775

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s010.xlsx, sheet 1

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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

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Wnt and Rho GTPase signaling in osteoarthritis development and intervention: implications for diagnosis and therapy.

Arthritis Research & Therapy

Zhu, Shouan S; Liu, Huanhuan H; Wu, Yan Y; Heng, Boon Chin BC; Chen, Pengfei P; Liu, Hua H; Ouyang, Hong Wei HW

Publication Date: 2013-07-11

Variant appearance in text: FRZB: Arg324Gly

PubMed Link: 23856044

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Association of single nucleotide polymorphisms in Wnt signaling pathway genes with breast cancer in Saudi patients.

Plos One

Alanazi, Mohammad Saud MS; Parine, Narasimha Reddy NR; Shaik, Jilani Purusottapatnam JP; Alabdulkarim, Huda A HA; Ajaj, Sana Abdulla SA; Khan, Zahid Z

Publication Date: 2013

Variant appearance in text: SFRP3: Arg324Gly; rs7775

PubMed Link: 23516639

Variant Present in the following documents:

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• pone.0059555.pdf

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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

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• TOORTHJ-6-164.pdf

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Variant alleles of the Wnt antagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis.

Arthritis And Rheumatism

Baker-Lepain, Julie C JC; Lynch, John A JA; Parimi, Neeta N; McCulloch, Charles E CE; Nevitt, Michael C MC; Corr, Maripat M; Lane, Nancy E NE

Publication Date: 2012-05

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 22544526

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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

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No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families.

Bmc Medical Genetics

Gao, Gao G; Zhang, Zhen-Lin ZL; He, Jin-Wei JW; Zhang, Hao H; Yue, Hua H; Hu, Wei-Wei WW; Gu, Jie-Mei JM; Fu, Wen-Zhen WZ; Hu, Yun-Qiu YQ; Li, Miao M; Liu, Yu-Juan YJ; Yu, Jin-Bo JB

Publication Date: 2010-01-01

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 20043861

Variant Present in the following documents:

• Main text
• 1471-2350-11-1.pdf

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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

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Genetic variants in frizzled-related protein (FRZB) and the risk of colorectal neoplasia.

Cancer Causes & Control : Ccc

Berndt, Sonja I SI; Huang, Wen-Yi WY; Yeager, Meredith M; Weissfeld, Joel L JL; Chanock, Stephen J SJ; Hayes, Richard B RB

Publication Date: 2009-05

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 19067193

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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

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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

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Inhibition of beta-catenin signaling in articular chondrocytes results in articular cartilage destruction.

Arthritis And Rheumatism

Zhu, Mei M; Chen, Mo M; Zuscik, Michael M; Wu, Qiuqian Q; Wang, Yong-Jun YJ; Rosier, Randy N RN; O'Keefe, Regis J RJ; Chen, Di D

Publication Date: 2008-07

Variant appearance in text: FRZB: Arg324Gly

PubMed Link: 18576323

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Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis.

Annals Of The Rheumatic Diseases

Rodriguez-Lopez, J J; Pombo-Suarez, M M; Liz, M M; Gomez-Reino, J J JJ; Gonzalez, A A

Publication Date: 2007-08

Variant appearance in text: FRZB: R324G; rs7775

PubMed Link: 17237116

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Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.

Arthritis Research & Therapy

Saklatvala, Jeremy J; Nagase, Hideaki H

Publication Date: 2004

Variant appearance in text: FRZB: R324G

PubMed Link: 15380034

Variant Present in the following documents:

• ar1211.pdf

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Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Loughlin, John J; Dowling, Barbara B; Chapman, Kay K; Marcelline, Lucy L; Mustafa, Zehra Z; Southam, Lorraine L; Ferreira, Athena A; Ciesielski, Cathleen C; Carson, Dennis A DA; Corr, Maripat M

Publication Date: 2004-06-29

Variant appearance in text: FRZB: Arg324Gly; rs7775

PubMed Link: 15210948

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