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: TLR6: T361T; rs3821985

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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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: TLR6: T361T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

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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: TLR6: T361T

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

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: TLR6: T361T; rs3821985

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_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

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: TLR6: 1083C>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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: TLR6: 1083C>G; rs3821985

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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A preliminary assessment of Toll-like receptor and β-defensin gene polymorphisms in Papua New Guinea - what does it mean for HIV/AIDS?

Papua And New Guinea Medical Journal

Willie, Barne B; Gare, Janet J; King, Christopher L CL; Zimmerman, Peter A PA; Mehlotra, Rajeev K RK

Publication Date: 2017

Variant appearance in text: TLR6: Thr361Thr; rs3821985

PubMed Link: 30147152

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.

Bmc Medical Genetics

Henmyr, V V; Carlberg, D D; Manderstedt, E E; Lind-Halldén, C C; Säll, T T; Cardell, L O LO; Halldén, C C

Publication Date: 2017-02-23

Variant appearance in text: TLR6: T361T; rs3821985

PubMed Link: 28228119

Variant Present in the following documents:

• 12881_2017_379_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: TLR6: T361T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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: TLR6: T361T; rs3821985

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population.

Journal Of Exercise Rehabilitation

Yang, Seung-Ae SA

Publication Date: 2013

Variant appearance in text: TLR6: Thr361Thr; rs3821985

PubMed Link: 24409430

Variant Present in the following documents:

• Main text
• jer-9-6-526-8.pdf

View BVdb publication page

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A TLR6 polymorphism is associated with increased risk of Legionnaires' disease.

Genes And Immunity

Misch, E A EA; Verbon, A A; Prins, J M JM; Skerrett, S J SJ; Hawn, T R TR

Publication Date: 2013-10

Variant appearance in text: TLR6: T361T; rs3821985

PubMed Link: 23823019

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data.

Plos One

Baker, Allison R AR; Qiu, Feiyou F; Randhawa, April Kaur AK; Horne, David J DJ; Adams, Mark D MD; Shey, Muki M; Barnholtz-Sloan, Jill J; Mayanja-Kizza, Harriet H; Kaplan, Gilla G; Hanekom, Willem A WA; Boom, W Henry WH; Hawn, Thomas R TR; Stein, Catherine M CM; ,

Publication Date: 2012

Variant appearance in text: TLR6: T361T; rs3821985

PubMed Link: 23112821

Variant Present in the following documents:

• Main text
• pone.0047597.pdf

View BVdb publication page

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Association of human TLR1 and TLR6 deficiency with altered immune responses to BCG vaccination in South African infants.

Plos Pathogens

Randhawa, April Kaur AK; Shey, Muki S MS; Keyser, Alana A; Peixoto, Blas B; Wells, Richard D RD; de Kock, Marwou M; Lerumo, Lesedi L; Hughes, Jane J; Hussey, Gregory G; Hawkridge, Anthony A; Kaplan, Gilla G; Hanekom, Willem A WA; Hawn, Thomas R TR; ,

Publication Date: 2011-08

Variant appearance in text: TLR6: T361T

PubMed Link: 21852947

Variant Present in the following documents:

• Main text
• ppat.1002174.pdf

View BVdb publication page

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Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion.

Genes And Immunity

Shey, M S MS; Randhawa, A K AK; Bowmaker, M M; Smith, E E; Scriba, T J TJ; de Kock, M M; Mahomed, H H; Hussey, G G; Hawn, T R TR; Hanekom, W A WA

Publication Date: 2010-10

Variant appearance in text: TLR6: T361T; rs3821985

PubMed Link: 20445564

Variant Present in the following documents:

• Main text

View BVdb publication page

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