Publications:

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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia.

Frontiers In Pediatrics

Gao, Mingxin M; Yu, Wenyuan W; Hu, Hui H; Liu, Hongli H; Fan, Kangjun K; Gu, Chengxiong C; Wang, Lvya L; Yu, Yang Y

Publication Date: 2020

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 33194883

Variant Present in the following documents:

• Main text

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: 1468T>C; W490R; rs730880130

PubMed Link: 33173538

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs730880130

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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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: W490R

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 5

View BVdb publication page

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Plos One

Etxebarria, Aitor A; Benito-Vicente, Asier A; Alves, Ana C AC; Ostolaza, Helena H; Bourbon, Mafalda M; Martin, Cesar C

Publication Date: 2014

Variant appearance in text: LDLR: 1468T>C; Trp490Arg

PubMed Link: 25386756

Variant Present in the following documents:

• Main text
• pone.0112677.pdf

View BVdb publication page

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