Publications:

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: LDLR: G805R

PubMed Link: 36901902

Variant Present in the following documents:

• ijms-24-04471.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 2413G>A; Gly805Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: LDLR: G805R

PubMed Link: 35966514

Variant Present in the following documents:

View BVdb publication page

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LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

Bmc Nephrology

Buraczynska, Monika M; Jacob, Jerry J; Gwiazda-Tyndel, Karolina K; Ksiazek, Andrzej A

Publication Date: 2021-09-23

Variant appearance in text: LDLR: G805R

PubMed Link: 34556050

Variant Present in the following documents:

• 12882_2021_Article_2532.pdf

View BVdb publication page

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Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics

Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: LDLR: G805R

PubMed Link: 33173538

Variant Present in the following documents:

• Main text
• fgene-11-570355.pdf

View BVdb publication page

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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Arteriosclerosis, Thrombosis, And Vascular Biology

Banerjee, Poulabi P; Chan, Kuo-Chen KC; Tarabocchia, Michel M; Benito-Vicente, Asier A; Alves, Ana C AC; Uribe, Kepa B KB; Bourbon, Mafalda M; Skiba, Paul J PJ; Pordy, Robert R; Gipe, Daniel A DA; Gaudet, Daniel D; Martin, Cesar C

Publication Date: 2019-11

Variant appearance in text: LDLR: G805R

PubMed Link: 31578082

Variant Present in the following documents:

• atv-39-2248.pdf

View BVdb publication page

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LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)

K Jha, Chandan C; Mir, Rashid R; Elfaki, Imadeldin I; Banu, Shaheena S; Chahal, S M S SMS

Publication Date: 2019-07-15

Variant appearance in text: LDLR: G805R

PubMed Link: 31311124

Variant Present in the following documents:

• medsci-07-00080.pdf

View BVdb publication page

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A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.

Plos One

Shu, Hongyan H; Chi, Jingwei J; Li, Jing J; Zhang, Wei W; Lv, Wenshan W; Wang, Jie J; Deng, Yujie Y; Hou, Xu X; Wang, Yangang Y

Publication Date: 2017

Variant appearance in text: LDLR: G805R

PubMed Link: 29228028

Variant Present in the following documents:

• pone.0189316.pdf

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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal Of Medical Genetics

Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE

Publication Date: 2017-04

Variant appearance in text: LDLR: 2413G>A; Gly805Arg

PubMed Link: 27821657

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104054.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: LDLR: 2413G>A; G805R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Febs Open Bio

Strøm, Thea Bismo TB; Tveten, Kristian K; Laerdahl, Jon K JK; Leren, Trond P TP

Publication Date: 2014

Variant appearance in text: LDLR: 2413G>A; G805R

PubMed Link: 24918045

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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