Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: NPC1L1: G402S; rs141973731

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: NPC1L1: 1204G>A; Gly402Ser

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NPC1L1: G402S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: NPC1L1: Gly402Ser; rs141973731

PubMed Link: 31483113

Variant Present in the following documents:

• Main text
• MNFR-63-na.pdf

View BVdb publication page

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Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients

Galmés, Sebastià S; Serra, Francisca F; Palou, Andreu A

Publication Date: 2018-12-04

Variant appearance in text: rs141973731

PubMed Link: 30518135

Variant Present in the following documents:

• Main text
• nutrients-10-01919.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs141973731

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Transporters for the Intestinal Absorption of Cholesterol, Vitamin E, and Vitamin K.

Journal Of Atherosclerosis And Thrombosis

Yamanashi, Yoshihide Y; Takada, Tappei T; Kurauchi, Ryoya R; Tanaka, Yusuke Y; Komine, Toko T; Suzuki, Hiroshi H

Publication Date: 2017-04-03

Variant appearance in text: NPC1L1: G402S

PubMed Link: 28100881

Variant Present in the following documents:

• Main text
• jat-24-347.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NPC1L1: 1204G>A; G402S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Complexity of vitamin E metabolism.

World Journal Of Biological Chemistry

Schmölz, Lisa L; Birringer, Marc M; Lorkowski, Stefan S; Wallert, Maria M

Publication Date: 2016-02-26

Variant appearance in text: NPC1L1: 1204G>A; G402S; rs141973731

PubMed Link: 26981194

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations driving CLL and their evolution in progression and relapse.

Nature

Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ

Publication Date: 2015-10-22

Variant appearance in text: NPC1L1: 1204G>A; G402S

PubMed Link: 26466571

Variant Present in the following documents:

• NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1

View BVdb publication page

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Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.

Hepatology (Baltimore, Md.)

Ramirez, Ruben R; Cohen, Jonathan C JC; Hobbs, Helen H HH; Browning, Jeffrey D JD

Publication Date: 2011-08

Variant appearance in text: NPC1L1: G402S

PubMed Link: 21626528

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: G402S

PubMed Link: 21189420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cohen, Jonathan C JC; Pertsemlidis, Alexander A; Fahmi, Saleemah S; Esmail, Sophie S; Vega, Gloria L GL; Grundy, Scott M SM; Hobbs, Helen H HH

Publication Date: 2006-02-07

Variant appearance in text: NPC1L1: 1204G>A; G402S

PubMed Link: 16449388

Variant Present in the following documents:

• Main text

View BVdb publication page

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