Publications:

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The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines

Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM

Publication Date: 2023-04-02

Variant appearance in text: rs17028

PubMed Link: 37189693

Variant Present in the following documents:

• Main text
• biomedicines-11-01075.pdf

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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: rs17028

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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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-01-03

Variant appearance in text: rs17028

PubMed Link: 34981673

Variant Present in the following documents:

• Main text
• MGG3-10-e1864.pdf

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-02

Variant appearance in text: rs17028

PubMed Link: 34981673

Variant Present in the following documents:

• Main text
• MGG3-10-e1864.pdf

View BVdb publication page

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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: rs17028

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs17028

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: rs17028

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs17028

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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Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.

Aging

Wang, Yang Y; Jiang, Qian Q; Cai, Hao H; Xu, Ze Z; Wu, Wenjie W; Gu, Beilin B; Li, Long L; Cai, Wei W

Publication Date: 2020-03-06

Variant appearance in text: rs17028

PubMed Link: 32139661

Variant Present in the following documents:

• Main text
• aging-12-102891.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs17028

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs17028

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_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: rs17028

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.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: rs17028

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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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: rs17028

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer.

Plos One

He, Caiyun C; Ma, Jiangjun J; Jiang, Yongle Y; Su, Xuan X; Zhang, Xiao X; Chen, Weichao W; Ye, Zulu Z; Deng, Tiancheng T; Deng, Wenze W; Yang, Ankui A

Publication Date: 2017

Variant appearance in text: rs17028

PubMed Link: 29131865

Variant Present in the following documents:

• Main text
• pone.0187968.pdf

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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: rs17028

PubMed Link: 25944692

Variant Present in the following documents:

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

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RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Human Mutation

Sabarinathan, Radhakrishnan R; Tafer, Hakim H; Seemann, Stefan E SE; Hofacker, Ivo L IL; Stadler, Peter F PF; Gorodkin, Jan J

Publication Date: 2013-04

Variant appearance in text: rs17028

PubMed Link: 23315997

Variant Present in the following documents:

• humu0034-0546-SD1.pdf

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Genetic copy number variants in myocardial infarction patients with hyperlipidemia.

Bmc Genomics

Shia, Wei-Chung WC; Ku, Tien-Hsiung TH; Tsao, Yu-Ming YM; Hsia, Chien-Hsun CH; Chang, Yung-Ming YM; Huang, Ching-Hui CH; Chung, Yeh-Ching YC; Hsu, Shih-Lan SL; Liang, Kae-Woei KW; Hsu, Fang-Rong FR

Publication Date: 2011-11-30

Variant appearance in text: rs17028

PubMed Link: 22369086

Variant Present in the following documents:

• Main text
• 1471-2164-12-S3-S23.pdf

View BVdb publication page

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Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans.

The Journal Of Clinical Investigation

Ngan, Elly Sau-Wai ES; Garcia-Barceló, Maria-Mercè MM; Yip, Benjamin Hon-Kei BH; Poon, Hiu-Ching HC; Lau, Sin-Ting ST; Kwok, Carmen Ka-Man CK; Sat, Eric E; Sham, Mai-Har MH; Wong, Kenneth Kak-Yuen KK; Wainwright, Brandon J BJ; Cherny, Stacey S SS; Hui, Chi-Chung CC; Sham, Pak Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK

Publication Date: 2011-09

Variant appearance in text: rs17028

PubMed Link: 21841314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs17028

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.pdf

View BVdb publication page

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