Publications:

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Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.

Metabolites

Ayoub, Carine C; Azar, Yara Y; Abou-Khalil, Yara Y; Ghaleb, Youmna Y; Elbitar, Sandy S; Halaby, Georges G; Jambart, Selim S; Gannagé-Yared, Marie-Hélène MH; Yaghi, Cesar C; Saade Riachy, Carole C; El Khoury, Ralph R; Rabès, Jean-Pierre JP; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2021-08-24

Variant appearance in text: APOB: Glu4154Lys

PubMed Link: 34564380

Variant Present in the following documents:

• Main text
• metabolites-11-00564.pdf

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: APOB: 12460G>A; E4154K

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Human Molecular Genetics

Freudenberg-Hua, Yun Y; Li, Wentian W; Abhyankar, Avinash A; Vacic, Vladimir V; Cortes, Vanessa V; Ben-Avraham, Danny D; Koppel, Jeremy J; Greenwald, Blaine B; Germer, Soren S; , ; Darnell, Robert B RB; Barzilai, Nir N; Freudenberg, Jan J; Atzmon, Gil G; Davies, Peter P

Publication Date: 2016-07-15

Variant appearance in text: APOB: E4154K

PubMed Link: 27260402

Variant Present in the following documents:

• Main text

View BVdb publication page

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The APOB gene polymorphism in the pathogenesis of gallstone disease in pre- and postmenopausal women.

Przeglad Menopauzalny = Menopause Review

Rudzińska, Karolina K; Bogacz, Anna A; Kotrych, Daniel D; Wolski, Hubert H; Majchrzycki, Marian M; Seremak-Mrozikiewicz, Agnieszka A; Kosiński, Bogusław B; Czerny, Bogusław B

Publication Date: 2015-03

Variant appearance in text: APOB: Glu4154Lys

PubMed Link: 26327886

Variant Present in the following documents:

• Main text
• MR-14-24886.pdf

View BVdb publication page

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The plasma concentration of HDL-associated apoM is influenced by LDL receptor-mediated clearance of apoB-containing particles.

Journal Of Lipid Research

Christoffersen, Christina C; Benn, Marianne M; Christensen, Pernille M PM; Gordts, Philip L S M PLSM; Roebroek, Anton J M AJM; Frikke-Schmidt, Ruth R; Tybjaerg-Hansen, Anne A; Dahlbäck, Björn B; Nielsen, Lars B LB

Publication Date: 2012-10

Variant appearance in text: APOB: E4154K

PubMed Link: 22826357

Variant Present in the following documents:

• Main text

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: APOB: E4154K

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lipoproteins, cholesterol homeostasis and cardiac health.

International Journal Of Biological Sciences

Daniels, Tyler F TF; Killinger, Karen M KM; Michal, Jennifer J JJ; Wright, Raymond W RW; Jiang, Zhihua Z

Publication Date: 2009-06-29

Variant appearance in text: APOB: E4154K

PubMed Link: 19584955

Variant Present in the following documents:

• ijbsv05p0474.pdf

View BVdb publication page

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Human pharmacogenomic variations and their implications for antifungal efficacy.

Clinical Microbiology Reviews

Meletiadis, Joseph J; Chanock, Stephen S; Walsh, Thomas J TJ

Publication Date: 2006-10

Variant appearance in text: APOB: Glu4154Lys

PubMed Link: 17041143

Variant Present in the following documents:

• Main text

View BVdb publication page

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