Literature DB >> 26541928

Characterization of the first PCSK9 gain of function homozygote.

Ana Catarina Alves, Aitor Etxebarria, Ana Margarida Medeiros, Asier Benito-Vicente, Aurélie Thedrez, Maxime Passard, Mikaël Croyal, Cesar Martin, Gilles Lambert, Mafalda Bourbon.   

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Year:  2015        PMID： 26541928     DOI： 10.1016/j.jacc.2015.08.871

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  6 in total

1.  Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.

Authors:  Aurélie Thedrez; Dirk J Blom; Stéphane Ramin-Mangata; Valentin Blanchard; Mikaël Croyal; Kévin Chemello; Brice Nativel; Matthieu Pichelin; Bertrand Cariou; Steeve Bourane; Lihua Tang; Michel Farnier; Frederick J Raal; Gilles Lambert
Journal:  Arterioscler Thromb Vasc Biol       Date:  2017-12-28       Impact factor: 8.311

2.  Metformin Ameliorates Hepatic Steatosis induced by olanzapine through inhibiting LXRα/PCSK9 pathway.

Authors:  Wenqiang Zhu; Chen Ding; Piaopiao Huang; Juanli Ran; Pingan Lian; Yaxin Tang; Wen Dai; Xiansheng Huang
Journal:  Sci Rep       Date:  2022-04-04       Impact factor: 4.996

Review 3.  Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Authors:  Asier Benito-Vicente; Kepa B Uribe; Shifa Jebari; Unai Galicia-Garcia; Helena Ostolaza; Cesar Martin
Journal:  Int J Mol Sci       Date:  2018-06-05       Impact factor: 5.923

4.  Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.

Authors:  Joana Rita Chora; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

5.  In vivo genome and base editing of a human PCSK9 knock-in hypercholesterolemic mouse model.

Authors:  Alba Carreras; Luna Simona Pane; Roberto Nitsch; Katja Madeyski-Bengtson; Michelle Porritt; Pinar Akcakaya; Amir Taheri-Ghahfarokhi; Elke Ericson; Mikael Bjursell; Marta Perez-Alcazar; Frank Seeliger; Magnus Althage; Ralph Knöll; Ryan Hicks; Lorenz M Mayr; Rosie Perkins; Daniel Lindén; Jan Borén; Mohammad Bohlooly-Y; Marcello Maresca
Journal:  BMC Biol       Date:  2019-01-15       Impact factor: 7.431

6.  A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

Authors:  Kepa B Uribe; Kevin Chemello; Asier Larrea-Sebal; Asier Benito-Vicente; Unai Galicia-Garcia; Steeve Bourane; Ali K Jaafar; Gilles Lambert; César Martín
Journal:  Int J Mol Sci       Date:  2021-12-18       Impact factor: 5.923
  6 in total

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