Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs1800692

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: TNFRSF1A: 473-33T>C; rs1800692

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 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: rs1800692

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1800692

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness.

Nature Communications

Reay, William R WR; Geaghan, Michael P MP; , ; Cairns, Murray J MJ

Publication Date: 2022-06-29

Variant appearance in text: rs1800692

PubMed Link: 35768473

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31473.pdf

View BVdb publication page

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Genetic and Clinical Factors Associated with Olokizumab Treatment in Russian Patients with Rheumatoid Arthritis.

Journal Of Personalized Medicine

Mikhaylenko, Dmitry S DS; Kuznetsova, Ekaterina B EB; Musatova, Viktoria V VV; Bure, Irina V IV; Deryagina, Tatiana A TA; Alekseeva, Ekaterina A EA; Tarasov, Vadim V VV; Zamyatnin, Andrey A AA; Nemtsova, Marina V MV

Publication Date: 2022-04-15

Variant appearance in text: rs1800692

PubMed Link: 35455757

Variant Present in the following documents:

• Main text
• jpm-12-00641.pdf

View BVdb publication page

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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: rs1800692

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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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: rs1800692

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Genome-wide association study identifies new loci associated with noise-induced tinnitus in Chinese populations.

Bmc Genomic Data

Xie, Chengyong C; Niu, Yuguang Y; Ping, Jie J; Wang, Yahui Y; Yang, Chenning C; Li, Yuanfeng Y; Zhou, Gangqiao G

Publication Date: 2021-09-06

Variant appearance in text: rs1800692

PubMed Link: 34482816

Variant Present in the following documents:

• Main text
• 12863_2021_Article_987.pdf

View BVdb publication page

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Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress.

International Journal Of Molecular Sciences

Putscher, Elena E; Hecker, Michael M; Fitzner, Brit B; Lorenz, Peter P; Zettl, Uwe Klaus UK

Publication Date: 2021-05-13

Variant appearance in text: rs1800692

PubMed Link: 34068052

Variant Present in the following documents:

• Main text
• ijms-22-05154.pdf

View BVdb publication page

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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: rs1800692

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.

Scientific Reports

Rittore, Cécile C; Méchin, Déborah D; Sanchez, Elodie E; Marinèche, Léa L; Ea, Vuthy V; Soler, Stephan S; Vereecke, Marion M; Mallavialle, Aude A; Richard, Eric E; Duroux-Richard, Isabelle I; Apparailly, Florence F; Touitou, Isabelle I; Grandemange, Sylvie S

Publication Date: 2021-02-18

Variant appearance in text: rs1800692

PubMed Link: 33603056

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83539.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs1800692

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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The haplotypes of various TNF related genes associated with scleritis in Chinese Han.

Human Genomics

Gao, Yingnan Y; Du, Liping L; Li, Fuzhen F; Ding, Jiadong J; Li, Geng G; Cao, Qingfeng Q; Li, Na N; Su, Guannan G; Kijlstra, Aize A; Yang, Peizeng P

Publication Date: 2020-12-07

Variant appearance in text: rs1800692

PubMed Link: 33287909

Variant Present in the following documents:

• Main text
• 40246_2020_Article_296.pdf

View BVdb publication page

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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: rs1800692

PubMed Link: 32879140

Variant Present in the following documents:

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

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: TNFRSF1A: 473-33T>C; rs1800692

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1800692

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Alternative splicing regulation in tumor necrosis factor-mediated inflammation.

Oncology Letters

López-Urrutia, Eduardo E; Campos-Parra, Alma A; Herrera, Luis Alonso LA; Pérez-Plasencia, Carlos C

Publication Date: 2017-11

Variant appearance in text: rs1800692

PubMed Link: 29113151

Variant Present in the following documents:

• Main text
• ol-14-05-5114.pdf

View BVdb publication page

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Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models.

Genetics And Molecular Biology

Erdem, Gokce Celikyapi GC; Erdemir, Sule S; Abaci, Irem I; Aydin, Asli K Kirectepe AKK; Everest, Elif E; Turanli, Eda Tahir ET

Publication Date: 2017

Variant appearance in text: rs1800692

PubMed Link: 28863210

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2016-0234.pdf

View BVdb publication page

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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: rs1800692

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Multiple analyses indicate the specific association of NR1I3, C6 and TNN with low hip BMD risk.

Journal Of Genetics And Genomics = Yi Chuan Xue Bao

Han, Ying-Ying YY; Zhao, Lan-Juan LJ; Lin, Yong Y; He, Hao H; Tian, Qing Q; Zhu, Wei W; Shen, Hui H; Chen, Xiang-Ding XD; Deng, Hong-Wen HW

Publication Date: 2017-06-20

Variant appearance in text: rs1800692

PubMed Link: 28629900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1800692

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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: rs1800692

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

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: rs1800692

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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Entropy-based selection for maternal-fetal genotype incompatibility with application to preterm prelabor rupture of membranes.

Bmc Genetics

Li, Shaoyu S; Cui, Yuehua Y; Romero, Roberto R

Publication Date: 2014-06-10

Variant appearance in text: rs1800692

PubMed Link: 24916189

Variant Present in the following documents:

• Main text
• 1471-2156-15-66.pdf

View BVdb publication page

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Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Journal Of Medical Genetics

Stanke, Frauke F; Becker, Tim T; Kumar, Vinod V; Hedtfeld, Silke S; Becker, Christian C; Cuppens, Harry H; Tamm, Stephanie S; Yarden, Jennifer J; Laabs, Ulrike U; Siebert, Benny B; Fernandez, Luis L; Macek, Milan M; Radojkovic, Dragica D; Ballmann, Manfred M; Greipel, Joachim J; Cassiman, Jean-Jacques JJ; Wienker, Thomas F TF; Tümmler, Burkhard B

Publication Date: 2011-01

Variant appearance in text: rs1800692

PubMed Link: 20837493

Variant Present in the following documents:

• Main text
• jmedgenet80937.pdf

View BVdb publication page

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Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Chen, Wei W; Abrams, Judith J; Land, Susan S; Giroux, Craig N CN; Schwartz, Ann G AG

Publication Date: 2009-06

Variant appearance in text: rs1800692

PubMed Link: 19505916

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

Cytokine

Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Land, Susan S; Schwartz, Ann G AG

Publication Date: 2009-05

Variant appearance in text: rs1800692

PubMed Link: 19356949

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.

Bmc Genomics

Pullat, Janne J; Fleischer, Robert R; Becker, Nikolaus N; Beier, Markus M; Metspalu, Andres A; Hoheisel, Jörg D JD

Publication Date: 2007-08-17

Variant appearance in text: rs1800692

PubMed Link: 17705862

Variant Present in the following documents:

• Main text
• 1471-2164-8-282.pdf

View BVdb publication page

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