Publications:

---

Integrin Subunit Alpha M, ITGAM Nonsynonymous SNP Is Associated with Knee Osteoarthritis among Thais: A Case-Control Study.

Current Issues In Molecular Biology

Intharanut, Kamphon K; Suttanon, Plaiwan P; Nathalang, Oytip O

Publication Date: 2023-05-09

Variant appearance in text: rs11177

PubMed Link: 37232734

Variant Present in the following documents:

• Main text
• cimb-45-00265.pdf

View BVdb publication page

---

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: GNL3: R39Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: GNL3: 116G>A; Arg39Gln; rs11177

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

---

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: GNL3: R39Q

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Single nucleotide polymorphism genes and mitochondrial DNA haplogroups as biomarkers for early prediction of knee osteoarthritis structural progressors: use of supervised machine learning classifiers.

Bmc Medicine

Bonakdari, Hossein H; Pelletier, Jean-Pierre JP; Blanco, Francisco J FJ; Rego-Pérez, Ignacio I; Durán-Sotuela, Alejandro A; Aitken, Dawn D; Jones, Graeme G; Cicuttini, Flavia F; Jamshidi, Afshin A; Abram, François F; Martel-Pelletier, Johanne J

Publication Date: 2022-09-12

Variant appearance in text: rs11177

PubMed Link: 36089590

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2491.pdf

View BVdb publication page

---

Allelic expression imbalance in articular cartilage and subchondral bone refined genome-wide association signals in osteoarthritis.

Rheumatology (Oxford, England)

Coutinho de Almeida, Rodrigo R; Tuerlings, Margo M; Ramos, Yolande Y; Den Hollander, Wouter W; Suchiman, Eka E; Lakenberg, Nico N; Nelissen, Rob G H H RGHH; Mei, Hailiang H; Meulenbelt, Ingrid I

Publication Date: 2022-08-30

Variant appearance in text: rs11177

PubMed Link: 36040165

Variant Present in the following documents:

• Main text
• keac498.pdf

View BVdb publication page

---

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications

Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K

Publication Date: 2022-03-24

Variant appearance in text: GNL3: Arg39Gln

PubMed Link: 35332129

Variant Present in the following documents:

• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: GNL3: R39Q

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.

National Science Review

Deng, Lian L; Zhang, Chao C; Yuan, Kai K; Gao, Yang Y; Pan, Yuwen Y; Ge, Xueling X; He, Yaoxi Y; Yuan, Yuan Y; Lu, Yan Y; Zhang, Xiaoxi X; Chen, Hao H; Lou, Haiyi H; Wang, Xiaoji X; Lu, Dongsheng D; Liu, Jiaojiao J; Tian, Lei L; Feng, Qidi Q; Khan, Asifullah A; Yang, Yajun Y; Jin, Zi-Bing ZB; Yang, Jian J; Lu, Fan F; Qu, Jia J; Kang, Longli L; Su, Bing B; Xu, Shuhua S

Publication Date: 2019-11

Variant appearance in text: rs11177

PubMed Link: 34691999

Variant Present in the following documents:

• Main text
• nwz108.pdf

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GNL3: 116G>A; R39Q; rs11177

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs11177

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: GNL3: 116G>A; R39Q; rs11177

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

---

Genetics of osteoarthritis.

Osteoarthritis And Cartilage

Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J

Publication Date: 2022-05

Variant appearance in text: rs11177

PubMed Link: 33722698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: rs11177

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: GNL3: Arg39Gln

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 7

View BVdb publication page

---

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: GNL3: R39Q; rs11177

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: GNL3: R39Q; rs11177

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: GNL3: 116G>A; rs11177

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: GNL3: R39Q

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry

Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y

Publication Date: 2019-01-31

Variant appearance in text: rs11177

PubMed Link: 30705251

Variant Present in the following documents:

View BVdb publication page

---

Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.

Molecular Psychiatry

Amare, Azmeraw T AT; Vaez, Ahmad A; Hsu, Yi-Hsiang YH; Direk, Nese N; Kamali, Zoha Z; Howard, David M DM; McIntosh, Andrew M AM; Tiemeier, Henning H; Bültmann, Ute U; Snieder, Harold H; Hartman, Catharina A CA

Publication Date: 2020-07

Variant appearance in text: rs11177

PubMed Link: 30626913

Variant Present in the following documents:

• Main text
• 41380_2018_Article_336.pdf

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: GNL3: R39Q; rs11177

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs11177

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs11177

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

---

Common variants in the GNL3 contribute to the increasing risk of knee osteoarthritis in Han Chinese population.

Scientific Reports

Liu, Bo B; Cheng, Huiguang H; Ma, Wenlong W; Gong, Futai F; Wang, Xiangyang X; Duan, Ning N; Dang, Xiaoqian X

Publication Date: 2018-06-25

Variant appearance in text: rs11177

PubMed Link: 29942097

Variant Present in the following documents:

• Main text
• 41598_2018_Article_27971.pdf

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

---

Genetic Determinants of Radiographic Knee Osteoarthritis in African Americans.

The Journal Of Rheumatology

Liu, Youfang Y; Yau, Michelle S MS; Yerges-Armstrong, Laura M LM; Duggan, David J DJ; Renner, Jordan B JB; Hochberg, Marc C MC; Mitchell, Braxton D BD; Jackson, Rebecca D RD; Jordan, Joanne M JM

Publication Date: 2017-11

Variant appearance in text: rs11177

PubMed Link: 28916551

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome Engineering for Personalized Arthritis Therapeutics.

Trends In Molecular Medicine

Adkar, Shaunak S SS; Brunger, Jonathan M JM; Willard, Vincent P VP; Wu, Chia-Lung CL; Gersbach, Charles A CA; Guilak, Farshid F

Publication Date: 2017-10

Variant appearance in text: rs11177

PubMed Link: 28887050

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs11177

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Structural variants caused by Alu insertions are associated with risks for many human diseases.

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

Payer, Lindsay M LM; Steranka, Jared P JP; Yang, Wan Rou WR; Kryatova, Maria M; Medabalimi, Sibyl S; Ardeljan, Daniel D; Liu, Chunhong C; Boeke, Jef D JD; Avramopoulos, Dimitri D; Burns, Kathleen H KH

Publication Date: 2017-05-16

Variant appearance in text: rs11177

PubMed Link: 28465436

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.

Annals Of The Rheumatic Diseases

Panoutsopoulou, Kalliope K; Thiagarajah, Shankar S; Zengini, Eleni E; Day-Williams, Aaron G AG; Ramos, Yolande Fm YF; Meessen, Jennifer Mta JM; Huetink, Kasper K; Nelissen, Rob Ghh RG; Southam, Lorraine L; Rayner, N William NW; , ; Doherty, Michael M; Meulenbelt, Ingrid I; Zeggini, Eleftheria E; Wilkinson, J Mark JM

Publication Date: 2017-07

Variant appearance in text: rs11177

PubMed Link: 27974301

Variant Present in the following documents:

• Main text
• annrheumdis-2016-210373.pdf

View BVdb publication page

---

Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.

Plos Genetics

Castaño-Betancourt, Martha C MC; Evans, Dan S DS; Ramos, Yolande F M YF; Boer, Cindy G CG; Metrustry, Sarah S; Liu, Youfang Y; den Hollander, Wouter W; van Rooij, Jeroen J; Kraus, Virginia B VB; Yau, Michelle S MS; Mitchell, Braxton D BD; Muir, Kenneth K; Hofman, Albert A; Doherty, Michael M; Doherty, Sally S; Zhang, Weiya W; Kraaij, Robert R; Rivadeneira, Fernando F; Barrett-Connor, Elizabeth E; Maciewicz, Rose A RA; Arden, Nigel N; Nelissen, Rob G H H RG; Kloppenburg, Margreet M; Jordan, Joanne M JM; Nevitt, Michael C MC; Slagboom, Eline P EP; Hart, Deborah J DJ; Lafeber, Floris F; Styrkarsdottir, Unnur U; Zeggini, Eleftheria E; Evangelou, Evangelos E; Spector, Tim D TD; Uitterlinden, Andre G AG; Lane, Nancy E NE; Meulenbelt, Ingrid I; Valdes, Ana M AM; van Meurs, Joyce B J JB

Publication Date: 2016-10

Variant appearance in text: rs11177

PubMed Link: 27701424

Variant Present in the following documents:

• Main text
• pgen.1006260.pdf

View BVdb publication page

---

Genome-Wide Association Study of Radiographic Knee Osteoarthritis in North American Caucasians.

Arthritis & Rheumatology (Hoboken, N.J.)

Yau, Michelle S MS; Yerges-Armstrong, Laura M LM; Liu, Youfang Y; Lewis, Cora E CE; Duggan, David J DJ; Renner, Jordan B JB; Torner, James J; Felson, David T DT; McCulloch, Charles E CE; Kwoh, C Kent CK; Nevitt, Michael C MC; Hochberg, Marc C MC; Mitchell, Braxton D BD; Jordan, Joanne M JM; Jackson, Rebecca D RD

Publication Date: 2017-02

Variant appearance in text: rs11177

PubMed Link: 27696742

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

---

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Tanisawa, Kumpei K; Arai, Yasumichi Y; Hirose, Nobuyoshi N; Shimokata, Hiroshi H; Yamada, Yoshiji Y; Kawai, Hisashi H; Kojima, Motonaga M; Obuchi, Shuichi S; Hirano, Hirohiko H; Yoshida, Hideyo H; Suzuki, Hiroyuki H; Fujiwara, Yoshinori Y; Ihara, Kazushige K; Sugaya, Maki M; Arai, Tomio T; Mori, Seijiro S; Sawabe, Motoji M; Sato, Noriko N; Muramatsu, Masaaki M; Higuchi, Mitsuru M; Liu, Yao-Wen YW; Kong, Qing-Peng QP; Tanaka, Masashi M

Publication Date: 2017-03-01

Variant appearance in text: rs11177

PubMed Link: 27154906

Variant Present in the following documents:

• glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx, sheet 3

View BVdb publication page

---

Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis.

Medicine

Wang, Ting T; Liang, Yuting Y; Li, Hong H; Li, Haibo H; He, Quanze Q; Xue, Ying Y; Shen, Cong C; Zhang, Chunhua C; Xiang, Jingjing J; Ding, Jie J; Qiao, Longwei L; Zheng, Qiping Q

Publication Date: 2016-02

Variant appearance in text: rs11177

PubMed Link: 26886631

Variant Present in the following documents:

• medi-95-e2811.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11177

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: GNL3: R39Q; rs11177

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

---

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: GNL3: R39Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: GNL3: R39Q; rs11177

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape.

Arthritis & Rheumatology (Hoboken, N.J.)

Lindner, Claudia C; Thiagarajah, Shankar S; Wilkinson, J Mark JM; Panoutsopoulou, Kalliope K; Day-Williams, Aaron G AG; , ; Cootes, Timothy F TF; Wallis, Gillian A GA

Publication Date: 2015-05

Variant appearance in text: rs11177

PubMed Link: 25939412

Variant Present in the following documents:

• Main text

View BVdb publication page

---

JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.

Bioinformatics (Oxford, England)

Lee, Donghyung D; Williamson, Vernell S VS; Bigdeli, T Bernard TB; Riley, Brien P BP; Fanous, Ayman H AH; Vladimirov, Vladimir I VI; Bacanu, Silviu-Alin SA

Publication Date: 2015-04-15

Variant appearance in text: rs11177

PubMed Link: 25505091

Variant Present in the following documents:

• Main text
• btu816.pdf

View BVdb publication page

---

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: GNL3: R39Q; rs11177

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association and functional studies identify a role for IGFBP3 in hip osteoarthritis.

Annals Of The Rheumatic Diseases

Evans, Daniel S DS; Cailotto, Frederic F; Parimi, Neeta N; Valdes, Ana M AM; Castaño-Betancourt, Martha C MC; Liu, Youfang Y; Kaplan, Robert C RC; Bidlingmaier, Martin M; Vasan, Ramachandran S RS; Teumer, Alexander A; Tranah, Gregory J GJ; Nevitt, Michael C MC; Cummings, Steven R SR; Orwoll, Eric S ES; Barrett-Connor, Elizabeth E; Renner, Jordan B JB; Jordan, Joanne M JM; Doherty, Michael M; Doherty, Sally A SA; Uitterlinden, Andre G AG; van Meurs, Joyce B J JB; Spector, Tim D TD; Lories, Rik J RJ; Lane, Nancy E NE

Publication Date: 2015-10

Variant appearance in text: rs11177

PubMed Link: 24928840

Variant Present in the following documents:

• Main text

View BVdb publication page

---