Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCG5: Q604E

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.

Genes

Teng, Ming-Sheng MS; Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Chou, Hsin-Hua HH; Er, Leay-Kiaw LK; Wu, Semon S; Ko, Yu-Lin YL

Publication Date: 2023-03-20

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 36981027

Variant Present in the following documents:

• Main text
• genes-14-00754.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs6720173

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications

Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK

Publication Date: 2022-11

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 36098472

Variant Present in the following documents:

• HEP4-6-3120-s001.xlsx, sheet 6

View BVdb publication page

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Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Diabetology & Metabolic Syndrome

Lee, Sanghoo S; Kim, Seol-A SA; Hong, Jeonghoon J; Kim, Yejin Y; Hong, Gayeon G; Baik, SaeYun S; Choi, Kyeonghwan K; Lee, Mi-Kyeong MK; Lee, Kyoung-Ryul KR

Publication Date: 2022-08-23

Variant appearance in text: rs6720173

PubMed Link: 35999587

Variant Present in the following documents:

• Main text
• 13098_2022_Article_893.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ABCG5: 1810C>G; Gln604Glu

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.

Frontiers In Genetics

Deng, Libin L; Xu, Jingsong J; Chen, Wei W; Guo, Shicheng S; Steiner, Robert D RD; Chen, Qi Q; Cheng, Zhujun Z; Xu, Yanmei Y; Yao, Bei B; Li, Xiaoyan X; Wang, Xiaozhong X; Deng, Keyu K; Schrodi, Steven J SJ; Zhang, Dake D; Xin, Hongbo H

Publication Date: 2021

Variant appearance in text: ABCG5: Gln604Glu; rs6720173

PubMed Link: 34880906

Variant Present in the following documents:

View BVdb publication page

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A genetic sum score of effect alleles associated with serum lipid concentrations interacts with educational attainment.

Scientific Reports

Emmel, Carina C; Frank, Mirjam M; Dragano, Nico N; Nöthen, Markus M MM; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Schmidt, Börge B

Publication Date: 2021-08-16

Variant appearance in text: rs6720173

PubMed Link: 34400708

Variant Present in the following documents:

• Main text
• 41598_2021_Article_95970.pdf

View BVdb publication page

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Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis.

Liver Research

Chiang, John Y L JYL; Ferrell, Jessica M JM

Publication Date: 2020-06

Variant appearance in text: rs6720173

PubMed Link: 34290896

Variant Present in the following documents:

• nihms-1625271.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: ABCG5: 1810C>G; Q604E; rs6720173

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: ABCG5: Q604E; rs6720173

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Nutrients

Abdullah, Mohammad M H MMH; Vazquez-Vidal, Itzel I; Baer, David J DJ; House, James D JD; Jones, Peter J H PJH; Desmarchelier, Charles C

Publication Date: 2021-02-22

Variant appearance in text: rs6720173

PubMed Link: 33671529

Variant Present in the following documents:

• Main text
• nutrients-13-00695.pdf

View BVdb publication page

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Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters

Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY

Publication Date: 2020-12

Variant appearance in text: ABCG5: Q604E

PubMed Link: 32978801

Variant Present in the following documents:

• Main text
• FEB2-594-4035.pdf

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: ABCG5: 1810C>G; Gln604Glu

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.

Lipids In Health And Disease

Park, Sunmin S; Kang, Suna S

Publication Date: 2020-07-29

Variant appearance in text: rs6720173

PubMed Link: 32727492

Variant Present in the following documents:

• Main text
• 12944_2020_Article_1352.pdf

View BVdb publication page

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Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.

Advances In Experimental Medicine And Biology

Wang, Helen H HH; Liu, Min M; Portincasa, Piero P; Wang, David Q-H DQ

Publication Date: 2020

Variant appearance in text: ABCG5: Q604E

PubMed Link: 32705597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 11

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: rs6720173

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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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: ABCG5: 1810C>G; Q604E; rs6720173

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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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: ABCG5: 1810C>G; Gln604Glu

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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Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules

Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E

Publication Date: 2019-11-29

Variant appearance in text: ABCG5: Gln604Glu; rs6720173

PubMed Link: 31795497

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.

Biochemical Society Transactions

Zein, Aiman A AA; Kaur, Rupinder R; Hussein, Toka O K TOK; Graf, Gregory A GA; Lee, Jyh-Yeuan JY

Publication Date: 2019-10-31

Variant appearance in text: ABCG5: Q604E

PubMed Link: 31654053

Variant Present in the following documents:

• Main text
• BST-47-1259.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: ABCG5: 1810C>G; Gln604Glu; rs6720173

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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GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research

Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G

Publication Date: 2019-11

Variant appearance in text: ABCG5: Q604E

PubMed Link: 31483113

Variant Present in the following documents:

• Main text
• MNFR-63-na.pdf

View BVdb publication page

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: ABCG5: 1810C>G; Gln604Glu; rs6720173

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

View BVdb publication page

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Medicine

Huang, Dan D; Zhou, Qiong Q; Chao, Yun-Qi YQ; Zou, Chao-Chun CC

Publication Date: 2019-04

Variant appearance in text: ABCG5: Q604E

PubMed Link: 30985648

Variant Present in the following documents:

• medi-98-e15013.pdf

View BVdb publication page

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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: ABCG5: Q604E; rs6720173

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: ABCG5: 1810C>G; Gln604Glu; rs6720173

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: ABCG5: 1810C>G; Gln604Glu; rs6720173

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility.

Gastroenterology And Hepatology From Bed To Bench

Milanizadeh, Saman S; Mohebbi, Seyed Reza SR; Khanyaghma, Mahsa M; Mohammad Alizadeh, Amir Houshang AH

Publication Date: 2017

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 29511480

Variant Present in the following documents:

• Main text
• GHFBB-10-S108.pdf

View BVdb publication page

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An update on the pathogenesis of cholesterol gallstone disease.

Current Opinion In Gastroenterology

Di Ciaula, Agostino A; Wang, David Q-H DQ; Portincasa, Piero P

Publication Date: 2018-03

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 29283909

Variant Present in the following documents:

• Main text

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: rs6720173

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Gene-Dairy Food Interactions and Health Outcomes: A Review of Nutrigenetic Studies.

Nutrients

Comerford, Kevin B KB; Pasin, Gonca G

Publication Date: 2017-07-06

Variant appearance in text: rs6720173

PubMed Link: 28684688

Variant Present in the following documents:

• Main text
• nutrients-09-00710.pdf

View BVdb publication page

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Polymorphisms in UGT1A1 Gene Predispose South Indians to Pigmentous Gallstones.

Journal Of Clinical And Experimental Hepatology

Ravikanth, Vishnubhotla Venkata VV; Rao, Guduru Venkat GV; Govardhan, Bale B; Sasikala, Mitnala M; Subramanyam, Chivukula C; Vivekananda Murthy, H V HV; Siva Prasad, Siddapuram S; Deepika, G G; Pradeep, Rebala R; Nageshwar Reddy, Duvvuru D

Publication Date: 2016-09

Variant appearance in text: rs6720173

PubMed Link: 27746618

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ABCG5: Q604E; rs6720173

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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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: STSL: Q604E; rs6720173

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: ABCG5: Q604E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg

Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN

Publication Date: 2016-01

Variant appearance in text: ABCG5: 1810C>G; Gln604Glu; rs6720173

PubMed Link: 25920552

Variant Present in the following documents:

• Main text

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: ABCG5: Q604E; rs6720173

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits.

Biodata Mining

Parnell, Laurence D LD; Blokker, Britt A BA; Dashti, Hassan S HS; Nesbeth, Paula-Dene PD; Cooper, Brittany Elle BE; Ma, Yiyi Y; Lee, Yu-Chi YC; Hou, Ruixue R; Lai, Chao-Qiang CQ; Richardson, Kris K; Ordovás, José M JM

Publication Date: 2014

Variant appearance in text: rs6720173

PubMed Link: 25368670

Variant Present in the following documents:

• Main text
• 1756-0381-7-21.pdf

View BVdb publication page

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Gene polymorphisms and gene scores linked to low serum carotenoid status and their associations with metabolic disturbance and depressive symptoms in African-American adults.

The British Journal Of Nutrition

Beydoun, May A MA; Nalls, Michael A MA; Canas, J Atilio JA; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2014-09-28

Variant appearance in text: rs6720173

PubMed Link: 25201307

Variant Present in the following documents:

• Main text

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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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: ABCG5: Q604E; rs6720173

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels.

Plos One

Li, Qing Q; Yin, Rui-Xing RX; Wei, Xian-Liang XL; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX; Liu, Cheng-Wu CW; Pan, Shang-Ling SL

Publication Date: 2012

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 22655090

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.

Drug Metabolism And Drug Interactions

Silverton, Latoya L; Dean, Michael M; Moitra, Karobi K

Publication Date: 2011

Variant appearance in text: ABCG5: Q604E

PubMed Link: 22098604

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chylomicron: relationship to atherosclerosis.

International Journal Of Vascular Medicine

Tomkin, Gerald H GH; Owens, Daphne D

Publication Date: 2012

Variant appearance in text: ABCG5: Q604E

PubMed Link: 22007304

Variant Present in the following documents:

• Main text
• IJVM2012-784536.pdf

View BVdb publication page

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Phytosterols and phytosterolemia: gene-diet interactions.

Genes & Nutrition

Izar, Maria C MC; Tegani, Daniela M DM; Kasmas, Soraia H SH; Fonseca, Francisco A FA

Publication Date: 2011-02

Variant appearance in text: ABCG5: Gln604Glu

PubMed Link: 21437027

Variant Present in the following documents:

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ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis.

Journal Of Lipid Research

Jakulj, Lily L; Vissers, Maud N MN; Tanck, Michael W T MW; Hutten, Barbara A BA; Stellaard, Frans F; Kastelein, John J P JJ; Dallinga-Thie, Geesje M GM

Publication Date: 2010-10

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 20581104

Variant Present in the following documents:

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Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.

Atherosclerosis

Garcia-Rios, A A; Perez-Martinez, P P; Fuentes, F F; Mata, P P; Lopez-Miranda, J J; Alonso, R R; Rodriguez, F F; Garcia-Olid, A A; Ruano, J J; Ordovas, J M JM; Perez-Jimenez, F F

Publication Date: 2010-06

Variant appearance in text: ABCG5: Gln604Glu

PubMed Link: 20172523

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A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

Plos One

Renner, Olga O; Harsch, Simone S; Schaeffeler, Elke E; Winter, Stefan S; Schwab, Matthias M; Krawczyk, Marcin M; Rosendahl, Jonas J; Wittenburg, Henning H; Lammert, Frank F; Stange, Eduard F EF

Publication Date: 2009-10-13

Variant appearance in text: ABCG5: Q604E

PubMed Link: 19823678

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Alterations in cholesterol absorption/synthesis markers characterize Framingham offspring study participants with CHD.

Journal Of Lipid Research

Matthan, Nirupa R NR; Pencina, Michael M; LaRocque, Jane M JM; Jacques, Paul F PF; D'Agostino, Ralph B RB; Schaefer, Ernst J EJ; Lichtenstein, Alice H AH

Publication Date: 2009-09

Variant appearance in text: ABCG5: Q604E

PubMed Link: 19436064

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Genetic variation and atherosclerosis.

Current Genomics

Biros, Erik E; Karan, Mirko M; Golledge, Jonathan J

Publication Date: 2008-03

Variant appearance in text: ABCG5: Q604E

PubMed Link: 19424482

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 3

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The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.

Journal Of Lipid Research

Junyent, Mireia M; Tucker, Katherine L KL; Smith, Caren E CE; Garcia-Rios, Antonio A; Mattei, Josiemer J; Lai, Chao-Qiang CQ; Parnell, Laurence D LD; Ordovas, Jose M JM

Publication Date: 2009-03

Variant appearance in text: ABCG5: Gln604Glu; rs6720173

PubMed Link: 19005228

Variant Present in the following documents:

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs6720173

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Bmc Medical Genetics

Pandit, Bhaswati B; Ahn, Gwang-Sook GS; Hazard, Starr E SE; Gordon, Derek D; Patel, Shailendra B SB

Publication Date: 2006-02-28

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 16507104

Variant Present in the following documents:

• Main text
• 1471-2350-7-13.pdf

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Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Clinical Genetics

Solcà, C C; Stanga, Z Z; Pandit, B B; Diem, P P; Greeve, J J; Patel, S B SB

Publication Date: 2005-08

Variant appearance in text: ABCG5: Q604E; rs6720173

PubMed Link: 15996216

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG5: Gln604Glu

PubMed Link: 11452359

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Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Nature Genetics

Lee, M H MH; Lu, K K; Hazard, S S; Yu, H H; Shulenin, S S; Hidaka, H H; Kojima, H H; Allikmets, R R; Sakuma, N N; Pegoraro, R R; Srivastava, A K AK; Salen, G G; Dean, M M; Patel, S B SB

Publication Date: 2001-01

Variant appearance in text: ABCG5: Q604E

PubMed Link: 11138003

Variant Present in the following documents:

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