Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: APOA2: 186-4C>T; rs6413453

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

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: rs6413453

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs6413453

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

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Association between functional genetic variants in retinoid X receptor-α/γ and the risk of gestational diabetes mellitus in a southern Chinese population.

Bioscience Reports

Yu, Xiang-Yuan XY; Song, Li-Ping LP; Zheng, Hui-Ting HT; Wei, Shu-Dan SD; Wen, Xiao-Lan XL; Huang, Bo B; Liu, Da-Bin DB

Publication Date: 2021-10-29

Variant appearance in text: rs6413453

PubMed Link: 34633445

Variant Present in the following documents:

• Main text
• bsr-41-bsr20211338.pdf

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: APOA2: 186-4C>T; rs6413453

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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Association between the APOA2 rs3813627 Single Nucleotide Polymorphism and HDL and APOA1 Levels Through BMI.

Biomedicines

Boughanem, Hatim H; Bandera-Merchán, Borja B; Hernández-Alonso, Pablo P; Moreno-Morales, Noelia N; Tinahones, Francisco José FJ; Lozano, José J; Morcillo, Sonsoles S; Macias-Gonzalez, Manuel M

Publication Date: 2020-02-27

Variant appearance in text: rs6413453

PubMed Link: 32120838

Variant Present in the following documents:

• Main text
• biomedicines-08-00044.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: APOA2: 186-4C>T; rs6413453

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: APOA2: 186-4C>T; rs6413453

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 Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.

International Journal Of Endocrinology And Metabolism

Daneshpour, Maryam S MS; Hedayati, Mehdi M; Sedaghati-Khayat, Bahareh B; Guity, Kamran K; Zarkesh, Maryam M; Akbarzadeh, Mahdi M; Javanrooh, Niloofar N; Zadeh-Vakili, Azita A; Azizi, Fereidoun F

Publication Date: 2018-10

Variant appearance in text: rs6413453

PubMed Link: 30584432

Variant Present in the following documents:

• Main text
• ijem-16-suppl04-84744.pdf

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs6413453

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_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: APOA2: 186-4C>T; rs6413453

PubMed Link: 30319441

Variant Present in the following documents:

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

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: rs6413453

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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Association between genetic loci linked to HDL-C levels and Indian patients with CAD: a pilot study.

Heart Asia

Stanley, Ashley A; Ponde, C K CK; Rajani, R M RM; Ashavaid, T F TF

Publication Date: 2017

Variant appearance in text: rs6413453

PubMed Link: 28123455

Variant Present in the following documents:

• Main text

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Identification of Sequence Variation in the Apolipoprotein A2 Gene and Their Relationship with Serum High-Density Lipoprotein Cholesterol Levels.

Iranian Biomedical Journal

Bandarian, Fatemeh F; Daneshpour, Maryam Sadat MS; Hedayati, Mehdi M; Naseri, Mohsen M; Azizi, Fereidoun F

Publication Date: 2016

Variant appearance in text: rs6413453

PubMed Link: 26590203

Variant Present in the following documents:

• Main text
• ibj-20-084.pdf

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Identification of Four Mouse Diabetes Candidate Genes Altering β-Cell Proliferation.

Plos Genetics

Kluth, Oliver O; Matzke, Daniela D; Kamitz, Anne A; Jähnert, Markus M; Vogel, Heike H; Scherneck, Stephan S; Schulze, Matthias M; Staiger, Harald H; Machicao, Fausto F; Häring, Hans-Ulrich HU; Joost, Hans-Georg HG; Schürmann, Annette A

Publication Date: 2015-09

Variant appearance in text: rs6413453

PubMed Link: 26348837

Variant Present in the following documents:

• Main text
• pgen.1005506.pdf

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Evaluating the association of common APOA2 variants with type 2 diabetes.

Bmc Medical Genetics

Duesing, Konsta K; Charpentier, Guillaume G; Marre, Michel M; Tichet, Jean J; Hercberg, Serge S; Balkau, Beverley B; Froguel, Philippe P; Gibson, Fernando F

Publication Date: 2009-02-13

Variant appearance in text: rs6413453

PubMed Link: 19216768

Variant Present in the following documents:

• Main text
• 1471-2350-10-13.pdf

View BVdb publication page

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