Publications:

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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: 2431A>T; Lys811Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association

Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M

Publication Date: 2022-08-16

Variant appearance in text: LDLR: 2431A>T; Lys811*; rs879255211

PubMed Link: 35929461

Variant Present in the following documents:

• JAH3-11-e025232.pdf
• JAH3-11-e025232-s001.pdf

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The Multifaceted Biology of PCSK9.

Endocrine Reviews

Seidah, Nabil G NG; Prat, Annik A

Publication Date: 2022-05-12

Variant appearance in text: LDLR: K811X

PubMed Link: 35552680

Variant Present in the following documents:

• Main text

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Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics

Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022

Variant appearance in text: LDLR: 2431A>T; Lys811Ter

PubMed Link: 35480308

Variant Present in the following documents:

• Presentation1.pdf

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Individualized Treatment for Patients With Familial Hypercholesterolemia.

Journal Of Lipid And Atherosclerosis

Tada, Hayato H; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022-01

Variant appearance in text: LDLR: 2431A>T; K811X

PubMed Link: 35118021

Variant Present in the following documents:

• Main text
• jla-11-39.pdf

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Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis

Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2022-08-01

Variant appearance in text: LDLR: K811X

PubMed Link: 34456200

Variant Present in the following documents:

• jat-29-1176.pdf

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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: 2431A>T; Lys811*

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: LDLR: 2431A>T

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 2431A>T; K811X

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

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Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Usui, Soichiro S; Sakata, Kenji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2020-06-01

Variant appearance in text: LDLR: 2431A>T; Lys811Ter

PubMed Link: 32350167

Variant Present in the following documents:

• Main text
• jat-27-489.pdf

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Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nomura, Akihiro A; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA

Publication Date: 2018-12-01

Variant appearance in text: LDLR: 2431A>T

PubMed Link: 29998912

Variant Present in the following documents:

• Main text

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Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.

The Journal Of Biological Chemistry

Butkinaree, Chutikarn C; Canuel, Maryssa M; Essalmani, Rachid R; Poirier, Steve S; Benjannet, Suzanne S; Asselin, Marie-Claude MC; Roubtsova, Anna A; Hamelin, Josée J; Marcinkiewicz, Jadwiga J; Chamberland, Ann A; Guillemot, Johann J; Mayer, Gaétan G; Sisodia, Sangram S SS; Jacob, Yves Y; Prat, Annik A; Seidah, Nabil G NG

Publication Date: 2015-07-24

Variant appearance in text: LDLR: K811X

PubMed Link: 26085104

Variant Present in the following documents:

• Main text

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Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).

Plos One

Canuel, Maryssa M; Sun, Xiaowei X; Asselin, Marie-Claude MC; Paramithiotis, Eustache E; Prat, Annik A; Seidah, Nabil G NG

Publication Date: 2013

Variant appearance in text: LDLR: K811X

PubMed Link: 23675525

Variant Present in the following documents:

• Main text
• pone.0064145.pdf

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