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: LDLRAP1: T56M; rs752849346

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications

Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ

Publication Date: 2022-11-04

Variant appearance in text: LDLRAP1: Thr56Met; rs752849346

PubMed Link: 36333282

Variant Present in the following documents:

• 41467_2022_34163_MOESM3_ESM.xlsx, sheet 8

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: LDLRAP1: 167C>T; Thr56Met

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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PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg

Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA

Publication Date: 2021-06

Variant appearance in text: ARH: Thr56Met

PubMed Link: 34447653

Variant Present in the following documents:

• bjmg-24-005.pdf

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: LDLRAP1: T56M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: LDLRAP1: 167C>T; Thr56Met

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: LDLRAP1: 167C>T; T56M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: LDLRAP1: T56M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

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

Dvir, Hay H; Shah, Mehul M; Girardi, Enrico E; Guo, Lixia L; Farquhar, Marilyn G MG; Zajonc, Dirk M DM

Publication Date: 2012-05-01

Variant appearance in text: ARH: T56M

PubMed Link: 22509010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial hypercholesterolemia: the lipids or the genes?

Nutrition & Metabolism

Fahed, Akl C AC; Nemer, Georges M GM

Publication Date: 2011-04-22

Variant appearance in text: ARH: Thr56Met

PubMed Link: 21513517

Variant Present in the following documents:

• 1743-7075-8-23.pdf

View BVdb publication page

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