Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs4520

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: APOC3: G34G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: APOC3: G34G; rs4520

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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Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Frontiers In Genetics

Jurado-Camacho, Pedro A PA; Cid-Soto, Miguel A MA; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Baca-Peynado, Paulina P; Martínez-Hernández, Angélica A; Centeno-Cruz, Federico F; Contreras-Cubas, Cecilia C; González-Villalpando, María Elena ME; Saldaña-Álvarez, Yolanda Y; Salas-Martinez, Guadalupe G; Mendoza-Caamal, Elvia C EC; González-Villalpando, Clicerio C; Córdova, Emilio J EJ; Orozco, Lorena L

Publication Date: 2022

Variant appearance in text: rs4520

PubMed Link: 35669185

Variant Present in the following documents:

• Main text
• fgene-13-807381.pdf

View BVdb publication page

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Pharmacogenetics of Donepezil and Memantine in Healthy Subjects.

Journal Of Personalized Medicine

Ovejero-Benito, María C MC; Ochoa, Dolores D; Enrique-Benedito, Teresa T; Del Peso-Casado, Miriam M; Zubiaur, Pablo P; Navares, Marcos M; Román, Manuel M; Abad-Santos, Francisco F

Publication Date: 2022-05-13

Variant appearance in text: rs4520

PubMed Link: 35629210

Variant Present in the following documents:

• Main text
• jpm-12-00788.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: APOC3: G34G

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Augmenting and directing long-range CRISPR-mediated activation in human cells.

Nature Methods

Tak, Y Esther YE; Horng, Joy E JE; Perry, Nicholas T NT; Schultz, Hayley T HT; Iyer, Sowmya S; Yao, Qiuming Q; Zou, Luli S LS; Aryee, Martin J MJ; Pinello, Luca L; Joung, J Keith JK

Publication Date: 2021-09

Variant appearance in text: rs4520

PubMed Link: 34354266

Variant Present in the following documents:

• Main text

View BVdb publication page

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Augmenting and directing long-range CRISPR-mediated activation in human cells.

Nature Methods

Tak, Y Esther YE; Horng, Joy E JE; Perry, Nicholas T NT; Schultz, Hayley T HT; Iyer, Sowmya S; Yao, Qiuming Q; Zou, Luli S LS; Aryee, Martin J MJ; Pinello, Luca L; Joung, J Keith JK

Publication Date: 2021-09

Variant appearance in text: rs4520

PubMed Link: 34354266

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertension is associated with a variant in the RARRES2 gene in populations of Ouro Preto, Minas Gerais, Brazil: a cross-sectional study.

International Journal Of Molecular Epidemiology And Genetics

Batista, Aline Priscila AP; Barbosa, Keila Furbino KF; de Azevedo, Rafael Júnior RJ; Vianna, Valeska Natiely VN; de Queiroz, Erica Maria EM; Marinho, Carolina Coimbra CC; Machado-Coelho, George Luiz Lins GLL

Publication Date: 2021

Variant appearance in text: rs4520

PubMed Link: 34336137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Polymorphisms Associated With the Pharmacokinetics, Pharmacodynamics and Adverse Effects of Olanzapine, Aripiprazole and Risperidone.

Frontiers In Pharmacology

Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Abad-Santos, Francisco F; Koller, Dora D

Publication Date: 2021

Variant appearance in text: rs4520

PubMed Link: 34335273

Variant Present in the following documents:

• Main text
• fphar-12-711940.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: APOC3: 102T>C; G34G; rs4520

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: APOC3: Gly34Gly; rs4520

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs4520

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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APOC3 rs2070667 Associates with Serum Triglyceride Profile and Hepatic Inflammation in Nonalcoholic Fatty Liver Disease.

Biomed Research International

Xu, Qing-Yang QY; Li, Han H; Cao, Hai-Xia HX; Pan, Qin Q; Fan, Jian-Gao JG

Publication Date: 2020

Variant appearance in text: rs4520

PubMed Link: 33294458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metabolic Effects of Aripiprazole and Olanzapine Multiple-Dose Treatment in a Randomised Crossover Clinical Trial in Healthy Volunteers: Association with Pharmacogenetics.

Advances In Therapy

Koller, Dora D; Almenara, Susana S; Mejía, Gina G; Saiz-Rodríguez, Miriam M; Zubiaur, Pablo P; Román, Manuel M; Ochoa, Dolores D; Navares-Gómez, Marcos M; Santos-Molina, Elena E; Pintos-Sánchez, Elena E; Abad-Santos, Francisco F

Publication Date: 2021-02

Variant appearance in text: rs4520

PubMed Link: 33278020

Variant Present in the following documents:

• Main text
• 12325_2020_Article_1566.pdf

View BVdb publication page

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Evaluating Lipid-Lowering Drug Targets for Parkinson's Disease Prevention with Mendelian Randomization.

Annals Of Neurology

Williams, Dylan M DM; Bandres-Ciga, Sara S; Heilbron, Karl K; Hinds, David D; Noyce, Alastair J AJ; , ; ,

Publication Date: 2020-11

Variant appearance in text: rs4520

PubMed Link: 32841444

Variant Present in the following documents:

• Main text
• ANA-88-1043.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: APOC3: G34G; rs4520

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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High levels of chemerin associated with variants in the NOS3 and APOB genes in rural populations of Ouro Preto, Minas Gerais, Brazil.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas

Batista, A P AP; Barbosa, K F KF; Masioli, C Z CZ; Queiroz, E M EM; Marinho, C C CC; Cândido, A P C APC; Machado-Coelho, G L L GLL

Publication Date: 2020

Variant appearance in text: rs4520

PubMed Link: 32401924

Variant Present in the following documents:

• Main text
• 1414-431X-bjmbr-53-6-e9113.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4520

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOC3: 102T>C; Gly34=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.

Genes

Huerta-Chagoya, Alicia A; Moreno-Macías, Hortensia H; Sevilla-González, Magdalena M; Rodríguez-Guillén, Rosario R; Ordóñez-Sánchez, María L ML; Gómez-Velasco, Donají D; Muñóz-Hernández, Liliana L; Segura-Kato, Yayoi Y; Arellano-Campos, Olimpia O; Cruz-Bautista, Ivette I; Aguilar-Salinas, Carlos A CA; Tusié-Luna, Teresa T

Publication Date: 2020-01-20

Variant appearance in text: rs4520

PubMed Link: 31968565

Variant Present in the following documents:

• Main text
• genes-11-00114.pdf

View BVdb publication page

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Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.

Lipids In Health And Disease

Malalla, Zainab H ZH; Al-Serri, Ahmad E AE; AlAskar, Huda M HM; Al-Kandari, Wafaa Y WY; Al-Bustan, Suzanne A SA

Publication Date: 2019-12-19

Variant appearance in text: rs4520

PubMed Link: 31856839

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1165.pdf

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: APOC3: 102T>C; Gly34=; rs4520

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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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: APOC3: G34G; rs4520

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: APOC3: 102T>C

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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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: APOC3: 102T>C; Gly34Gly; rs4520

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs4520

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of APOA5 and APOC3 Genetic Polymorphisms With Severity of Hypertriglyceridemia in Patients With Cutaneous T-Cell Lymphoma Treated With Bexarotene.

Jama Dermatology

Cabello, Irene I; Alia, Pedro P; Pintó, Xavier X; Muniesa, Cristina C; Fernandez-de-Misa, Ricardo R; Peñate, Yerai Y; Morillo, Mercedes M; Perez-Farriols, Amparo A; Estrach, Teresa T; Izu, Rosa R; Gallardo, Fernando F; Román, Concepción C; Cervigón, Iván I; Ortiz-Brugues, Ariadna A; Ortiz-Romero, Pablo L PL; Servitje, Octavio O

Publication Date: 2018-12-01

Variant appearance in text: APOC3: 102T>C

PubMed Link: 30422238

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between Genetic Variant of Apolipoprotein C3 and Incident Hypertension Stratified by Obesity and Physical Activity in Korea.

Nutrients

Jo, Garam G; Kwak, So-Young SY; Kim, Ji Young JY; Lim, Hyunjung H; Shin, Min-Jeong MJ

Publication Date: 2018-10-30

Variant appearance in text: rs4520

PubMed Link: 30380775

Variant Present in the following documents:

• Main text
• nutrients-10-01595.pdf

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: APOC3: 102T>C; rs4520

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: rs4520

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.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: APOC3: 102T>C; G34G; rs4520

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

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: APOC3: G34G; rs4520

PubMed Link: 29221171

Variant Present in the following documents:

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

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: rs4520

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Association of Apolipoprotein C3 Genetic Polymorphisms with the Risk of Ischemic Stroke in the Northern Chinese Han Population.

Plos One

Wang, Yanzhe Y; Yin, Xiaoyu X; Li, Lei L; Deng, Shumin S; He, Zhiyi Z

Publication Date: 2016

Variant appearance in text: rs4520

PubMed Link: 27690381

Variant Present in the following documents:

• Main text

View BVdb publication page

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An APOC3 3'UTR variant associated with plasma triglycerides levels and coronary heart disease by creating a functional miR-4271 binding site.

Scientific Reports

Hu, Sen-Lin SL; Cui, Guang-Lin GL; Huang, Jin J; Jiang, Jian-Gang JG; Wang, Dao-Wen DW

Publication Date: 2016-09-14

Variant appearance in text: APOC3: G34G; rs4520

PubMed Link: 27624799

Variant Present in the following documents:

• Main text
• srep32700.pdf

View BVdb publication page

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Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.

Human Molecular Genetics

Gilly, Arthur A; Ritchie, Graham Rs GR; Southam, Lorraine L; Farmaki, Aliki-Eleni AE; Tsafantakis, Emmanouil E; Dedoussis, George G; Zeggini, Eleftheria E

Publication Date: 2016-06-01

Variant appearance in text: rs4520

PubMed Link: 27146844

Variant Present in the following documents:

• Main text
• ddw088.pdf

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: APOC3: G34G; rs4520

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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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: APOC3: G34G; rs4520

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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APOC3 may not be a predictor of risk of ischemic vascular disease in the Chinese population.

F1000Research

Tang, Liang L; Cheng, Zhi-Peng ZP; Wang, Qing-Yun QY; Zeng, Wei W; Liu, Hui H; Wu, Ying-Ying YY; Hu, Bei B; Hu, Yu Y

Publication Date: 2014

Variant appearance in text: APOC3: 102T>C; Gly34=; rs4520

PubMed Link: 25653838

Variant Present in the following documents:

• Main text
• f1000research-3-6399.pdf

View BVdb publication page

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Association between lipid genetic and immunological status in chronically HIV-infected patients.

Journal Of The International Aids Society

Echeverría, Patricia P; Guardiola, Montse M; González, Marta M; Vallvé, Joan Carles JC; Puig, Jordi J; Bonjoch, Anna A; Clotet, Bonaventura B; Ribalta, Josep J; Negredo, Eugenia E

Publication Date: 2014

Variant appearance in text: rs4520

PubMed Link: 25394062

Variant Present in the following documents:

• Main text
• JIAS-17-19555.pdf

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: APOC3: G34G; rs4520

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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