Publications:

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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics

Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2022

Variant appearance in text: PCSK9: 43_44insCTG

PubMed Link: 36061186

Variant Present in the following documents:

• fgene-13-961028.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: PCSK9: 43_44insCTG

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

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Sauchinone controls hepatic cholesterol homeostasis by the negative regulation of PCSK9 transcriptional network.

Scientific Reports

Chae, Hee-Sung HS; You, Byoung Hoon BH; Kim, Dong-Yeop DY; Lee, Hankyu H; Ko, Hyuk Wan HW; Ko, Hyun-Jeong HJ; Choi, Young Hee YH; Choi, Sun Shim SS; Chin, Young-Won YW

Publication Date: 2018-04-30

Variant appearance in text: PCSK9: 43_44insCTG

PubMed Link: 29712938

Variant Present in the following documents:

• 41598_2018_Article_24935.pdf

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Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research

Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN

Publication Date: 2017-08

Variant appearance in text: PCSK9: 43_44insCTG

PubMed Link: 28966647

Variant Present in the following documents:

• NRR-12-1315.pdf

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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: PCSK9: 43_44insCTG

PubMed Link: 25266949

Variant Present in the following documents:

• medscimonit-20-1758.pdf

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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease

Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M

Publication Date: 2013-05-10

Variant appearance in text: PCSK9: 43_44insCTG

PubMed Link: 23663650

Variant Present in the following documents:

• 1476-511X-12-70.pdf

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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Orphanet Journal Of Rare Diseases

Georges, Amandine A; Bonneau, Jessica J; Bonnefont-Rousselot, Dominique D; Champigneulle, Jacqueline J; Rabès, Jean P JP; Abifadel, Marianne M; Aparicio, Thomas T; Guenedet, Jean C JC; Bruckert, Eric E; Boileau, Catherine C; Morali, Alain A; Varret, Mathilde M; Aggerbeck, Lawrence P LP; Samson-Bouma, Marie E ME

Publication Date: 2011-01-14

Variant appearance in text: PCSK9: 43_44insCTG

PubMed Link: 21235735

Variant Present in the following documents:

• Main text
• 1750-1172-6-1.pdf

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