Publications:

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GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model.

Lipids In Health And Disease

Varghese, Divya Saro DS; Oommen, Deepu D; John, Anne A; Ali, Bassam R BR

Publication Date: 2023-05-29

Variant appearance in text: LDLR: C667F

PubMed Link: 37248472

Variant Present in the following documents:

• Main text
• 12944_2023_Article_1835.pdf
• 12944_2023_1835_MOESM1_ESM.pdf

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs28942083

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: C667F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Scientific Reports

Grunwald, Stefanie Anke SA; Popp, Oliver O; Haafke, Stefanie S; Jedraszczak, Nicole N; Grieben, Ulrike U; Saar, Kathrin K; Patone, Giannino G; Kress, Wolfram W; Steinhagen-Thiessen, Elisabeth E; Dittmar, Gunnar G; Spuler, Simone S

Publication Date: 2020-02-07

Variant appearance in text: rs28942083

PubMed Link: 32034223

Variant Present in the following documents:

• Main text
• 41598_2020_Article_58668.pdf

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Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.

Febs Open Bio

Kizhakkedath, Praseetha P; John, Anne A; Al-Sawafi, Buthaina K BK; Al-Gazali, Lihadh L; Ali, Bassam R BR

Publication Date: 2019-11

Variant appearance in text: LDLR: C667F

PubMed Link: 31587492

Variant Present in the following documents:

• Main text
• FEB4-9-1994.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: C667F

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: rs28942083

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Distribution and effects of nonsense polymorphisms in human genes.

Plos One

Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T

Publication Date: 2008

Variant appearance in text: rs28942083

PubMed Link: 18852891

Variant Present in the following documents:

View BVdb publication page

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