Publications:

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Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

International Journal Of Molecular Sciences

Razman, Aimi Zafira AZ; Chua, Yung-An YA; Mohd Kasim, Noor Alicezah NA; Al-Khateeb, Alyaa A; Sheikh Abdul Kadir, Siti Hamimah SH; Jusoh, Siti Azma SA; Nawawi, Hapizah H; ,

Publication Date: 2022-11-29

Variant appearance in text: APOB: I474V

PubMed Link: 36499307

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Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Frontiers In Physiology

Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA

Publication Date: 2022

Variant appearance in text: APOB: I474V

PubMed Link: 36187800

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Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)

Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV

Publication Date: 2022-06-09

Variant appearance in text: APOB: I474V

PubMed Link: 35743896

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• Main text
• life-12-00865.pdf

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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics

Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y

Publication Date: 2020

Variant appearance in text: APOB: I474V

PubMed Link: 33173529

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The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.

Lipids In Health And Disease

Chuan, Junlan J; Qian, Zhengxu Z; Zhang, Yuan Y; Tong, Rongsheng R; Peng, Min M

Publication Date: 2019-04-30

Variant appearance in text: APOB: I474V

PubMed Link: 31036026

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• Main text
• 12944_2019_Article_1036.pdf

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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology

Pitts, Reynaria N RN; Eckel, Robert H RH

Publication Date: 2014-12

Variant appearance in text: APOB: I474V

PubMed Link: 30310488

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J

Publication Date: 2015-09-28

Variant appearance in text: APOB: Ile474Val

PubMed Link: 26415676

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Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Han, Dengfeng D; Ma, Jianhua J; Zhang, Xiaoning X; Cai, Jian J; Li, Jinlan J; Tuerxun, Tuerhong T; Hao, Chenguang C; Du, Lei L; Lei, Jing J

Publication Date: 2014-09-30

Variant appearance in text: APOB: Ile474Val

PubMed Link: 25266949

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• medscimonit-20-1758.pdf

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Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics

Jelassi, Awatef A; Najah, Mohamed M; Slimani, Afef A; Jguirim, Imen I; Slimane, Mohamed Naceur MN; Varret, Mathilde M

Publication Date: 2013-03

Variant appearance in text: APOB: 1420A>G; Ile474Val

PubMed Link: 23997648

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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg

Snozek, Christine L H CL; Lagerstedt, Susan A SA; Khoo, Teck K TK; Rubenfire, Melvyn M; Isley, William L WL; Train, Laura J LJ; Baudhuin, Linnea M LM

Publication Date: 2009-01

Variant appearance in text: APOB: Ile474Val

PubMed Link: 18648394

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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics

Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,

Publication Date: 2006-12

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PubMed Link: 17142622

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A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology

Chen, Suet N SN; Ballantyne, Christie M CM; Gotto, Antonio M AM; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ

Publication Date: 2005-05-17

Variant appearance in text: APOB: I474V

PubMed Link: 15893176

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