Publications:

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Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes

Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R

Publication Date: 2023-03-15

Variant appearance in text: rs879254597

PubMed Link: 36980993

Variant Present in the following documents:

• Main text

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: 622G>T; Glu208Ter

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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CRISPR-Based Tools for Fighting Rare Diseases.

Life (Basel, Switzerland)

Li, Qingyang Q; Gao, Yanmin Y; Wang, Haifeng H

Publication Date: 2022-11-24

Variant appearance in text: LDLR: E208X

PubMed Link: 36556333

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 622G>T; Glu208*

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: E208X

PubMed Link: 35966514

Variant Present in the following documents:

View BVdb publication page

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The Progression of Treatment for Refractory Hypercholesterolemia: Focus on the Prospect of Gene Therapy.

Frontiers In Genetics

Li, Zhi-Fan ZF; Wu, Na-Qiong NQ

Publication Date: 2022

Variant appearance in text: LDLR: E208X

PubMed Link: 35754818

Variant Present in the following documents:

• Main text
• fgene-13-911429.pdf

View BVdb publication page

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The Potential of CRISPR/Cas9 Gene Editing as a Treatment Strategy for Inherited Diseases.

Frontiers In Cell And Developmental Biology

Abdelnour, Sameh A SA; Xie, Long L; Hassanin, Abdallah A AA; Zuo, Erwei E; Lu, Yangqing Y

Publication Date: 2021

Variant appearance in text: LDLR: E208X

PubMed Link: 34977000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.

Frontiers In Cardiovascular Medicine

Cao, Genmao G; Xuan, Xuezhen X; Zhang, Ruijing R; Hu, Jie J; Dong, Honglin H

Publication Date: 2021

Variant appearance in text: LDLR: E208X

PubMed Link: 34805315

Variant Present in the following documents:

• Main text
• fcvm-08-760140.pdf

View BVdb publication page

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 622G>T; Glu208*

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

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: rs879254597

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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