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Marie-Soleil Gauthier

Showing results (31-40 of 39) with videos related to

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American Journal of Human Genetics|January 8, 2021
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathyDjurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, et al.
Journal of Clinical Lipidology|April 28, 2018
Posttranslational modification of proprotein convertase subtilisin/kexin type 9 is differentially regulated in response to distinct cardiometabolic treatments as revealed by targeted proteomicsMarie-Soleil Gauthier, Zuhier Awan, Annie Bouchard, et al.
Molecular Brain|June 22, 2019
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesisKarine Choquet, Maxime Pinard, Sharon Yang, et al.
Genome Biology|January 15, 2024
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humansHongyu Luo, Linjiang Lao, Kit Sing Au, et al.
Methods (San Diego, Calif.)|March 16, 2015
A semi-automated mass spectrometric immunoassay coupled to selected reaction monitoring (MSIA-SRM) reveals novel relationships between circulating PCSK9 and metabolic phenotypes in patient cohortsMarie-Soleil Gauthier, Joëlle R Pérusse, Zuhier Awan, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 26, 2019
Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor)Ali Ben Djoudi Ouadda, Marie-Soleil Gauthier, Delia Susan-Resiga, et al.
HGG Advances|January 20, 2022
Variants in <i>LSM7</i> impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological diseaseAlexa Derksen, Hung-Yu Shih, Diane Forget, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
Metabolites|March 24, 2022
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial HypercholesterolemiaYoumna Ghaleb, Sandy Elbitar, Anne Philippi, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
American Journal of Human Genetics|January 8, 2021
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathyDjurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, et al.
Journal of Clinical Lipidology|April 28, 2018
Posttranslational modification of proprotein convertase subtilisin/kexin type 9 is differentially regulated in response to distinct cardiometabolic treatments as revealed by targeted proteomicsMarie-Soleil Gauthier, Zuhier Awan, Annie Bouchard, et al.
Molecular Brain|June 22, 2019
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesisKarine Choquet, Maxime Pinard, Sharon Yang, et al.
Genome Biology|January 15, 2024
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humansHongyu Luo, Linjiang Lao, Kit Sing Au, et al.
Methods (San Diego, Calif.)|March 16, 2015
A semi-automated mass spectrometric immunoassay coupled to selected reaction monitoring (MSIA-SRM) reveals novel relationships between circulating PCSK9 and metabolic phenotypes in patient cohortsMarie-Soleil Gauthier, Joëlle R Pérusse, Zuhier Awan, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 26, 2019
Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor)Ali Ben Djoudi Ouadda, Marie-Soleil Gauthier, Delia Susan-Resiga, et al.
HGG Advances|January 20, 2022
Variants in <i>LSM7</i> impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological diseaseAlexa Derksen, Hung-Yu Shih, Diane Forget, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
Metabolites|March 24, 2022
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial HypercholesterolemiaYoumna Ghaleb, Sandy Elbitar, Anne Philippi, et al.
Pageof 4