Publications:

---

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: TNFRSF10B: A67V; rs1047266

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• 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: TNFRSF10B: A67V; rs1047266

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: TNFRSF10B: A67V; rs1047266

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics

Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2020-11

Variant appearance in text: TNFRSF10B: 200C>T; rs1047266

PubMed Link: 32951330

Variant Present in the following documents:

• Main text
• CNS-26-1178-s002.xlsx, sheet 1
• CNS-26-1178.pdf

View BVdb publication page

---

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zhang, Min M; Wang, Xiaoyan X; Jiang, Xiaodong X; Yang, Xiangling X; Wen, Chuangyu C; Zhi, Min M; Gao, Xiang X; Hu, Pinjin P; Liu, Huanliang H

Publication Date: 2019-12-17

Variant appearance in text: rs1047266

PubMed Link: 31844038

Variant Present in the following documents:

• Main text
• medscimonit-25-9637.pdf

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: TNFRSF10B: A67V; rs1047266

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

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: rs1047266

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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: TNFRSF10B: 200C>T; Ala67Val; rs1047266

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

---

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: TNFRSF10B: 200C>T; A67V; rs1047266

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

---

CYP1B1 G199T Polymorphism Affects Prognosis of NSCLC Patients with the Potential to Be an Indicator and Target for Precise Drug Intervention.

Biomed Research International

Li, Fengzhou F; Zhang, Shaofeng S; Zhang, Qi Q; Li, Jinxiu J; Zhao, Shilei S; Gu, Chundong C

Publication Date: 2017

Variant appearance in text: rs1047266

PubMed Link: 28377924

Variant Present in the following documents:

• Main text
• BMRI2017-1529564.pdf

View BVdb publication page

---

Development of a prognosis-prediction model incorporating genetic polymorphism with pathologic stage in stage I non-small cell lung cancer: A multicenter study.

Thoracic Cancer

Lee, Won Kee WK; Lee, Shin Yup SY; Choi, Jin Eun JE; Seok, Yangki Y; Lee, Eung Bae EB; Lee, Hyun Cheol HC; Kang, Hyo-Gyoung HG; Yoo, Seung Soo SS; Lee, Myung Hoon MH; Cho, Sukki S; Jheon, Sanghoon S; Kim, Young Chul YC; Oh, In Jae IJ; Na, Kook Joo KJ; Jung, Chi Young CY; Park, Chang-Kwon CK; Kim, Mi-Hyun MH; Lee, Min Ki MK; Park, Jae Yong JY

Publication Date: 2017-05

Variant appearance in text: rs1047266

PubMed Link: 28371058

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: TNFRSF10B: A67V; rs1047266

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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: rs1047266

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

A Panel of Genetic Polymorphism for the Prediction of Prognosis in Patients with Early Stage Non-Small Cell Lung Cancer after Surgical Resection.

Plos One

Lee, Shin Yup SY; Choi, Jin Eun JE; Jeon, Hyo-Sung HS; Choi, Yi-Young YY; Lee, Won Kee WK; Lee, Eung Bae EB; Lee, Hyun Cheol HC; Kang, Hyo-Gyoung HG; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Lee, Myung Hoon MH; Kim, Young Tae YT; Jheon, Sanghoon S; Park, Jae Yong JY

Publication Date: 2015

Variant appearance in text: rs1047266

PubMed Link: 26462029

Variant Present in the following documents:

• Main text

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: TNFRSF10B: A67V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

RACK1 is a candidate gene associated with the prognosis of patients with early stage non-small cell lung cancer.

Oncotarget

Choi, Yi-Young YY; Lee, Shin Yup SY; Lee, Won Kee WK; Jeon, Hyo-Sung HS; Lee, Eung Bae EB; Lee, Hyun Cheol HC; Choi, Jin Eun JE; Kang, Hyo-Gyoung HG; Lee, Eun Jin EJ; Bae, Eun Young EY; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Kim, In-San IS; Lee, Myung Hoon MH; Kim, Young Tae YT; Jheon, Sanghoon S; Park, Jae Yong JY

Publication Date: 2015-02-28

Variant appearance in text: rs1047266

PubMed Link: 25686824

Variant Present in the following documents:

• Main text
• oncotarget-06-4451.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: TNFRSF10B: A67V; rs1047266

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: TNFRSF10B: A67V

PubMed Link: 25333361

Variant Present in the following documents:

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

View BVdb publication page

---

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: TNFRSF10B: A67V

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

---

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: TNFRSF10B: A67V; rs1047266

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 2

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: TNFRSF10B: A67V; rs1047266

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

TNFRSF10B polymorphisms and haplotypes associated with increased risk of death in non-small cell lung cancer.

Carcinogenesis

Schabath, Matthew B MB; Giuliano, Anna R AR; Thompson, Zachary J ZJ; Amankwah, Ernest K EK; Gray, Jhanelle E JE; Fenstermacher, David A DA; Jonathan, Kristen A KA; Beg, Amer A AA; Haura, Eric B EB

Publication Date: 2013-11

Variant appearance in text: rs1047266

PubMed Link: 23839018

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prognostic assessment of apoptotic gene polymorphisms in non-small cell lung cancer in Chinese.

Journal Of Biomedical Research

Cao, Songyu S; Wang, Cheng C; Huang, Xinen X; Dai, Juncheng J; Hu, Lingmin L; Liu, Yao Y; Chen, Jiaping J; Ma, Hongxia H; Jin, Guangfu G; Hu, Zhibin Z; Xu, Lin L; Shen, Hongbing H

Publication Date: 2013-05

Variant appearance in text: rs1047266

PubMed Link: 23720679

Variant Present in the following documents:

• Main text
• jbr-27-03-231.pdf

View BVdb publication page

---

Association between genetic variations in tumor necrosis factor receptor genes and survival of patients with T-cell lymphoma.

Chinese Journal Of Cancer

Zhai, Kan K; Chang, Jiang J; Wu, Chen C; Lu, Ning N; Huang, Li-Ming LM; Zhang, Tong-Wen TW; Yu, Dian-Ke DK; Tan, Wen W; Lin, Dong-Xin DX

Publication Date: 2012-07

Variant appearance in text: rs1047266

PubMed Link: 22640629

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in apoptosis-related genes and TP53 mutations in non-small cell lung cancer.

Journal Of Korean Medical Science

Bae, Eun Young EY; Lee, Eun Jin EJ; Kang, Hyo-Gyoung HG; Lee, Shin Yup SY; Jin, Gwang G; Lee, Won Kee WK; Choi, Jin Eun JE; Jeon, Hyo-Sung HS; Lim, Jeong Ok JO; Lee, Eung Bae EB; Park, Jae Yong JY

Publication Date: 2011-11

Variant appearance in text: TNFRSF10B: A67V; rs1047266

PubMed Link: 22065914

Variant Present in the following documents:

• jkms-26-1527.pdf

View BVdb publication page

---

Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos.

The American Journal Of Clinical Nutrition

Voruganti, V Saroja VS; Cole, Shelley A SA; Ebbesson, Sven O E SO; Göring, Harald H H HH; Haack, Karin K; Laston, Sandra S; Wenger, Charlotte R CR; Tejero, M Elizabeth ME; Devereux, Richard B RB; Fabsitz, Richard R RR; MacCluer, Jean W JW; Umans, Jason G JG; Howard, Barbara V BV; Comuzzie, Anthony G AG

Publication Date: 2010-06

Variant appearance in text: rs1047266

PubMed Link: 20410100

Variant Present in the following documents:

• Main text

View BVdb publication page

---