Publications:

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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: PCSK9: E57K

PubMed Link: 36187800

Variant Present in the following documents:

• Main text
• fphys-13-960272.pdf

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: PCSK9: 169G>A; rs145886902

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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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: PCSK9: 169G>A; Glu57Lys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association

Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM

Publication Date: 2020-02-04

Variant appearance in text: PCSK9: E57K

PubMed Link: 32009526

Variant Present in the following documents:

• JAH3-9-e013808.pdf
• JAH3-9-e013808-s001.pdf

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Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports

Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP

Publication Date: 2016-12

Variant appearance in text: PCSK9: E57K

PubMed Link: 27896130

Variant Present in the following documents:

• Main text
• main.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HCHOLA3: E57K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: E57K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics

Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR

Publication Date: 2015

Variant appearance in text: PCSK9: 169G>A; E57K; rs145886902

PubMed Link: 25904937

Variant Present in the following documents:

• Main text
• fgene-06-00136.pdf

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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry

Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG

Publication Date: 2010-12-24

Variant appearance in text: PCSK9: E57K

PubMed Link: 20937814

Variant Present in the following documents:

• Main text

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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One

Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ

Publication Date: 2007-10-31

Variant appearance in text: PCSK9: E57K

PubMed Link: 17971861

Variant Present in the following documents:

• Main text

View BVdb publication page

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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics

Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2006-03

Variant appearance in text:

PubMed Link: 16465619

Variant Present in the following documents:

• Main text

View BVdb publication page

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