Publications:

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: PCSK9: R104C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites

Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC

Publication Date: 2022-02-26

Variant appearance in text: PCSK9: R104C

PubMed Link: 35323658

Variant Present in the following documents:

• Main text
• metabolites-12-00215.pdf

View BVdb publication page

---

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine

Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW

Publication Date: 2021

Variant appearance in text: PCSK9: R104C

PubMed Link: 34782856

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports

Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K

Publication Date: 2021-10-26

Variant appearance in text: PCSK9: R104C

PubMed Link: 34739847

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

---

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports

Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K

Publication Date: 2021-12-14

Variant appearance in text: PCSK9: R104C

PubMed Link: 34739847

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

---

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 310C>T; Arg104Cys; rs369067856

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

View BVdb publication page

---

Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience

Shi, Tianyuan T; Cheung, Martin M

Publication Date: 2021-05-13

Variant appearance in text: PCSK9: R104C

PubMed Link: 33985584

Variant Present in the following documents:

• Main text

View BVdb publication page

---

New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers In Physiology

Ying, Qidi Q; Chan, Dick C DC; Watts, Gerald F GF

Publication Date: 2021

Variant appearance in text: PCSK9: R104C

PubMed Link: 33643062

Variant Present in the following documents:

• Main text
• fphys-12-603910.pdf

View BVdb publication page

---

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: R104C

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs369067856

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International

Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J

Publication Date: 2017

Variant appearance in text: PCSK9: R104C

PubMed Link: 29250119

Variant Present in the following documents:

• Main text
• SCI2017-4378947.pdf

View BVdb publication page

---

The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice

Seidah, Nabil G NG

Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R104C

PubMed Link: 28971102

Variant Present in the following documents:

• Main text
• gcsp-2017-1-e201702.pdf

View BVdb publication page

---

tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)

Wei, Chih-Hsuan CH; Phan, Lon L; Feltz, Juliana J; Maiti, Rama R; Hefferon, Tim T; Lu, Zhiyong Z

Publication Date: 2018-01-01

Variant appearance in text: PCSK9: 310C>T; Arg104Cys

PubMed Link: 28968638

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms

Si-Tayeb, Karim K; Idriss, Salam S; Champon, Benoite B; Caillaud, Amandine A; Pichelin, Matthieu M; Arnaud, Lucie L; Lemarchand, Patricia P; Le May, Cédric C; Zibara, Kazem K; Cariou, Bertrand B

Publication Date: 2016-01

Variant appearance in text: PCSK9: R104C

PubMed Link: 26586530

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Nutrition & Metabolism

Cariou, Bertrand B; Langhi, Cédric C; Le Bras, Maëlle M; Bortolotti, Murielle M; Lê, Kim-Anne KA; Theytaz, Fanny F; Le May, Cédric C; Guyomarc'h-Delasalle, Béatrice B; Zaïr, Yassine Y; Kreis, Roland R; Boesch, Chris C; Krempf, Michel M; Tappy, Luc L; Costet, Philippe P

Publication Date: 2013-01-08

Variant appearance in text: PCSK9: R104C

PubMed Link: 23298392

Variant Present in the following documents:

• Main text
• 1743-7075-10-4.pdf

View BVdb publication page

---

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry

Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG

Publication Date: 2012-09-28

Variant appearance in text: PCSK9: R104C

PubMed Link: 22875854

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: PCSK9: R104C

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

---