Publications:

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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: NPC1L1: L272L; rs2072183

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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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: NPC1L1: L272L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

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CYP7A1, NPC1L1, ABCB1, and CD36 Polymorphisms Associated with Coenzyme Q10 Availability Affect the Subjective Quality of Life Score (SF-36) after Long-Term CoQ10 Supplementation in Women.

Nutrients

Takahashi, Michiyo M; Kinoshita, Tetsu T; Maruyama, Koutatsu K; Suzuki, Toshikazu T

Publication Date: 2022-06-22

Variant appearance in text: NPC1L1: L272L; rs2072183

PubMed Link: 35807759

Variant Present in the following documents:

• nutrients-14-02579.pdf

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: NPC1L1: Leu272Leu; rs2072183

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: NPC1L1: L272L; rs2072183

PubMed Link: 33671529

Variant Present in the following documents:

• Main text
• nutrients-13-00695.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: NPC1L1: L272L; rs2072183

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.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: NPC1L1: L272L; rs2072183

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Exploring the Valuable Carotenoids for the Large-Scale Production by Marine Microorganisms.

Marine Drugs

Torregrosa-Crespo, Javier J; Montero, Zaida Z; Fuentes, Juan Luis JL; Reig García-Galbis, Manuel M; Garbayo, Inés I; Vílchez, Carlos C; Martínez-Espinosa, Rosa María RM

Publication Date: 2018-06-08

Variant appearance in text: NPC1L1: L272L

PubMed Link: 29890662

Variant Present in the following documents:

• Main text
• marinedrugs-16-00203.pdf

View BVdb publication page

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Interindividual Variability in Biomarkers of Cardiometabolic Health after Consumption of Major Plant-Food Bioactive Compounds and the Determinants Involved.

Advances In Nutrition (Bethesda, Md.)

Milenkovic, Dragan D; Morand, Christine C; Cassidy, Aedin A; Konic-Ristic, Aleksandra A; Tomás-Barberán, Francisco F; Ordovas, José M JM; Kroon, Paul P; De Caterina, Raffaele R; Rodriguez-Mateos, Ana A

Publication Date: 2017-07

Variant appearance in text: NPC1L1: L272L

PubMed Link: 28710143

Variant Present in the following documents:

• Main text
• an013623.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: NPC1L1: L272L; rs2072183

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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Carotenoids from Haloarchaea and Their Potential in Biotechnology.

Marine Drugs

Rodrigo-Baños, Montserrat M; Garbayo, Inés I; Vílchez, Carlos C; Bonete, María José MJ; Martínez-Espinosa, Rosa María RM

Publication Date: 2015-08-25

Variant appearance in text: NPC1L1: L272L

PubMed Link: 26308012

Variant Present in the following documents:

• marinedrugs-13-05508.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: NPC1L1: L272L; rs2072183

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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β-Cryptoxanthin modulates the response to phytosterols in post-menopausal women carrying NPC1L1 L272L and ABCG8 A632 V polymorphisms: an exploratory study.

Genes & Nutrition

Granado-Lorencio, F F; de Las Heras, L L; Millán, C San CS; Garcia-López, F J FJ; Blanco-Navarro, I I; Pérez-Sacristán, B B; Domínguez, G G

Publication Date: 2014-09

Variant appearance in text: NPC1L1: L272L

PubMed Link: 25163590

Variant Present in the following documents:

• Main text

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: NPC1L1: L272L; rs2072183

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

Lipids In Health And Disease

Pisciotta, Livia L; Bellocchio, Antonella A; Bertolini, Stefano S

Publication Date: 2012-09-22

Variant appearance in text: NPC1L1: L272L

PubMed Link: 22998978

Variant Present in the following documents:

• Main text
• 1476-511X-11-123.pdf

View BVdb publication page

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Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations.

Lipids In Health And Disease

Miao, Lin L; Yin, Rui-Xing RX; Hu, Xi-Jiang XJ; Wu, Dong-Feng DF; Cao, Xiao-Li XL; Li, Qing Q; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX

Publication Date: 2012-05-30

Variant appearance in text: NPC1L1: L272L; rs2072183

PubMed Link: 22646906

Variant Present in the following documents:

• Main text
• 1476-511X-11-61.pdf

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: NPC1L1: L272L; rs2072183

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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: NPC1L1: L272L

PubMed Link: 21437027

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.

The Journal Of Biological Chemistry

Wang, Li-Juan LJ; Wang, Jing J; Li, Na N; Ge, Liang L; Li, Bo-Liang BL; Song, Bao-Liang BL

Publication Date: 2011-03-04

Variant appearance in text: NPC1L1: L272L

PubMed Link: 21189420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly.

Journal Of Lipid Research

Polisecki, Eliana E; Peter, Inga I; Simon, Jason S JS; Hegele, Robert A RA; Robertson, Michele M; Ford, Ian I; Shepherd, James J; Packard, Christopher C; Jukema, J Wouter JW; de Craen, Anton J M AJ; Westendorp, Rudi G J RG; Buckley, Brendan M BM; Schaefer, Ernst J EJ; ,

Publication Date: 2010-05

Variant appearance in text: NPC1L1: L272L; rs2072183

PubMed Link: 19752398

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

Human Molecular Genetics

Fahmi, Saleemah S; Yang, Chendong C; Esmail, Sophie S; Hobbs, Helen H HH; Cohen, Jonathan C JC

Publication Date: 2008-07-15

Variant appearance in text: NPC1L1: L272L

PubMed Link: 18413323

Variant Present in the following documents:

• Main text
• ddn108.pdf

View BVdb publication page

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NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe.

Lipids In Health And Disease

Hegele, Robert A RA; Guy, Justin J; Ban, Matthew R MR; Wang, Jian J

Publication Date: 2005-08-12

Variant appearance in text: NPC1L1: L272L

PubMed Link: 16098225

Variant Present in the following documents:

• Main text
• 1476-511X-4-16.pdf

View BVdb publication page

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