Publications:

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Endocrine Regulation of Microvascular Receptor-Mediated Transcytosis and Its Therapeutic Opportunities: Insights by PCSK9-Mediated Regulation.

Pharmaceutics

Mazura, Alexander D AD; Pietrzik, Claus U CU

Publication Date: 2023-04-18

Variant appearance in text: LDLR: R410S

PubMed Link: 37111752

Variant Present in the following documents:

• pharmaceutics-15-01268.pdf

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Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: functional regulation of LDLR levels.

Molecular Metabolism

Gaillard, Carole Fruchart CF; Ben Djoudi Ouadda, Ali A; Ciccone, Lidia L; Girard, Emmanuelle E; Mikaeeli, Sepideh S; Evagelidis, Alexandra A; Le Dévéhat, Maïlys M; Susan-Resiga, Delia D; Lajeunesse, Evelyne Cassar EC; Nozach, Hervé H; Pereira Ramos, Oscar Henrique OH; Thureau, Aurélien A; Legrand, Pierre P; Prat, Annik A; Dive, Vincent V; Seidah, Nabil G NG

Publication Date: 2022-12-22

Variant appearance in text: LDLR: R410S

PubMed Link: 36566984

Variant Present in the following documents:

• main.pdf

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Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization: A case report.

World Journal Of Clinical Cases

Yang, Liu L; Xiao, Yan-Yan YY; Shao, Liang L; Ouyang, Chang-Sheng CS; Hu, Yao Y; Li, Bin B; Lei, Li-Feng LF; Wang, Hong H

Publication Date: 2022-07-06

Variant appearance in text: LDLR: R410S

PubMed Link: 35979295

Variant Present in the following documents:

• WJCC-10-6728.pdf

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes

Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A

Publication Date: 2022-06-01

Variant appearance in text: LDLR: R410S

PubMed Link: 35741760

Variant Present in the following documents:

• genes-13-00999.pdf

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Resistin Modulates Low-Density Lipoprotein Cholesterol Uptake in Human Placental Explants via PCSK9.

Reproductive Sciences (Thousand Oaks, Calif.)

Nava-Salazar, Sonia S; Flores-Pliego, Arturo A; Pérez-Martínez, Giovanni G; Parra-Hernández, Sandra S; Vanoye-Carlo, America A; Ibarguengoitia-Ochoa, Francisco F; Perichart-Perera, Otilia O; Reyes-Muñoz, Enrique E; Solis-Paredes, Juan Mario JM; Espino Y Sosa, Salvador S; Estrada-Gutierrez, Guadalupe G

Publication Date: 2022-11

Variant appearance in text: LDLR: R410S

PubMed Link: 35467263

Variant Present in the following documents:

• 43032_2022_Article_943.pdf

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Hepatic Sensing Loop Regulates PCSK9 Secretion in Response to Inhibitory Antibodies.

Journal Of The American College Of Cardiology

Oleaga, Carlota C; Shapiro, Michael D MD; Hay, Joshua J; Mueller, Paul A PA; Miles, Joshua J; Huang, Cecilia C; Friz, Emily E; Tavori, Hagai H; Toth, Peter P PP; Wójcik, Cezary C; Warden, Bruce A BA; Purnell, Jonathan Q JQ; Duell, P Barton PB; Pamir, Nathalie N; Fazio, Sergio S

Publication Date: 2021-10-05

Variant appearance in text: LDLR: R410S

PubMed Link: 34593126

Variant Present in the following documents:

• nihms-1738519.pdf

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Asialoglycoprotein receptor 1 is a novel PCSK9-independent ligand of liver LDLR cleaved by furin.

The Journal Of Biological Chemistry

Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Roubtsova, Anna A; Marcinkiewicz, Jadwiga J; Derbali, Rabeb M RM; Evagelidis, Alexandra A; Byun, Jae H JH; Lebeau, Paul F PF; Austin, Richard C RC; Seidah, Nabil G NG

Publication Date: 2021-10

Variant appearance in text: LDLR: R410S

PubMed Link: 34508778

Variant Present in the following documents:

• main.pdf

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Montreal-FH-SCORE Predicts Coronary Artery Calcium Score in Patients With Familial Hypercholesterolemia.

Cjc Open

Béland-Bonenfant, Sarah S; Paquette, Martine M; Fantino, Manon M; Bourque, Lucienne L; Saint-Pierre, Nathalie N; Baass, Alexis A; Bernard, Sophie S

Publication Date: 2021-01

Variant appearance in text: LDLR: R410S

PubMed Link: 33458631

Variant Present in the following documents:

• main.pdf

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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: R410S

PubMed Link: 33173538

Variant Present in the following documents:

• fgene-11-570355.pdf

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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: R410S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 1230G>C; Arg410Ser

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

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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: 1230G>C; Arg410Ser

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

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Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society

Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H

Publication Date: 2020-01-01

Variant appearance in text: LDLR: R410S

PubMed Link: 31993549

Variant Present in the following documents:

• Main text

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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports

Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M

Publication Date: 2018-01-31

Variant appearance in text: LDLR: R410S

PubMed Link: 29386597

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20281.pdf

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The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry

Susan-Resiga, Delia D; Girard, Emmanuelle E; Kiss, Robert Scott RS; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Awan, Zuhier Z; Butkinaree, Chutikarn C; Fleury, Alexandre A; Soldera, Armand A; Dory, Yves L YL; Baass, Alexis A; Seidah, Nabil G NG

Publication Date: 2017-02-03

Variant appearance in text: LDLR: R410S

PubMed Link: 27998977

Variant Present in the following documents:

• Main text

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