Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient

Authors: Stéfanie Parisien-La Salle, Florence Perreault, Gilles Corbeil, Julie Morisset, Charles Poirier, Catherine Beauregard, Agnès Räkel, Marjorie Labrecque, Martine Tétreault, Christian Cohade, Pasquale Ferraro, Isabelle Bourdeau

Source: Frontiers in Endocrinology, Vol 15 (2025)

Subject Terms: pheochromocytoma, hypoxia, genetics, RNA-sequencing, transplant, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

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Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/d5ba2f946827409893e6e71faacae07c

Sustained IFN signaling is associated with delayed development of SARS-CoV-2-specific immunity

Authors: Elsa Brunet-Ratnasingham, Sacha Morin, Haley E. Randolph, Marjorie Labrecque, Justin Bélair, Raphaël Lima-Barbosa, Amélie Pagliuzza, Lorie Marchitto, Michael Hultström, Julia Niessl, Rose Cloutier, Alina M. Sreng Flores, Nathalie Brassard, Mehdi Benlarbi, Jérémie Prévost, Shilei Ding, Sai Priya Anand, Gérémy Sannier, Amanda Marks, Dick Wågsäter, Eric Bareke, Hugo Zeberg, Miklos Lipcsey, Robert Frithiof, Anders Larsson, Sirui Zhou, Tomoko Nakanishi, David Morrison, Dani Vezina, Catherine Bourassa, Gabrielle Gendron-Lepage, Halima Medjahed, Floriane Point, Jonathan Richard, Catherine Larochelle, Alexandre Prat, Janet L. Cunningham, Nathalie Arbour, Madeleine Durand, J. Brent Richards, Kevin Moon, Nicolas Chomont, Andrés Finzi, Martine Tétreault, Luis Barreiro, Guy Wolf, Daniel E. Kaufmann

Source: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/59f2aa4758444b718331711ce163fcf7

Fatty acids derived from the probiotic Lacticaseibacillus rhamnosus HA-114 suppress age-dependent neurodegeneration

Authors: Audrey Labarre, Ericka Guitard, Gilles Tossing, Anik Forest, Eric Bareke, Marjorie Labrecque, Martine Tétreault, Matthieu Ruiz, J. Alex Parker

Source: Communications Biology, Vol 5, Iss 1, Pp 1-19 (2022)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/d4113e284c59414499856b89a89a1b1e

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

Authors: Jean Mezreani, Sébastien Audet, Florence Martin, Jade Charbonneau, Valérie Triassi, Eric Bareke, Annie Laplante, Jason Karamchandani, Rami Massie, Colin H. Chalk, Erin O’Ferrall, Martine Tétreault

Source: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-5 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/755335b34f2a4c4abab5bcab98830aad

Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer’s disease mouse model

Authors: Laura K. Hamilton, Gaël Moquin-Beaudry, Chenicka L. Mangahas, Federico Pratesi, Myriam Aubin, Anne Aumont, Sandra E. Joppé, Alexandre Légiot, Annick Vachon, Mélanie Plourde, Catherine Mounier, Martine Tétreault, Karl J. L. Fernandes

Source: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/c4156f3f019a4fb582af55e7362fab88

Estimated prevalence of Niemann–Pick type C disease in Quebec

Authors: Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/7b7034c9c309436abaf075521380d279

Author Correction: Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer’s disease mouse model

Authors: Laura K. Hamilton, Gaël Moquin-Beaudry, Chenicka L. Mangahas, Federico Pratesi, Myriam Aubin, Anne Aumont, Sandra E. Joppé, Alexandre Légiot, Annick Vachon, Mélanie Plourde, Catherine Mounier, Martine Tétreault, Karl J. L. Fernandes

Source: Nature Communications, Vol 14, Iss 1, Pp 1-2 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/9953dc3130f340d693a49140e14e055f

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

Authors: Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen

Source: PLoS Biology, Vol 10, Iss 3, p e1001288 (2012)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22448145/?tool=EBI; https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

Access URL: https://doaj.org/article/49c361fbff384663a3cdb4b3869b2dcd

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Editorial: Diagnosis, animal models and therapeutic interventions for neuromuscular diseases

Authors: Muthukumar Karuppasamy, Martine Tetreault, Jessica Rosati

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: neuromuscular diseases, musculoskeletal disorders, muscular dystrophy, animal models, drug repurposing/repositioning/rescue (DRPx), Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1481705/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/420765b8bcbc4f63a86d9b9eb312d008

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Comparative analysis of methods to reduce activation signature gene expression in PBMCs

Authors: Lovatiana Andriamboavonjy, Adam MacDonald, Laura K. Hamilton, Marjorie Labrecque, Marie-Noёlle Boivin, Jason Karamchandani, Jo Anne Stratton, Martine Tetreault

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/d5c5c58582384d829b016e2e2d948c81

Integration of multi-omics technologies for molecular diagnosis in ataxia patients

Authors: Sebastien Audet, Valerie Triassi, Myriam Gelinas, Nab Legault-Cadieux, Vincent Ferraro, Antoine Duquette, Martine Tetreault

Source: Frontiers in Genetics, Vol 14 (2024)

Subject Terms: genomics, transcriptomics, ataxia, long-read sequencing (LRS), variant of uncertain significance (VUS), whole genome sequencing (WGS), Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304711/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/febc620e189044fca3be1a00e503a120

P840: Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients

Authors: Sebastien Audet, Martine Tetreault, Antoine Duquette, Valerie Triassi, Myriam Gelinas, Carolane Charest

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101751- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424008975; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/a135f1ccf3f341ec91db27a378061934

A MULTI-OMICS APPROACH TO THE IDENTIFICATION OF BIOLOGICAL SIGNATURES IN PARKINSONISMS

Authors: Lovatiana Andriamboavonjy, Saiyet Baez Llovio, Laura Hamilton, Audet Sébastien, Valérie Triassi, Marjorie Labrecque, Michel Panisset, Martine Tetreault

Source: IBRO Neuroscience Reports, Vol 15, Iss , Pp S920- (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667242123019978; https://doaj.org/toc/2667-2421

Access URL: https://doaj.org/article/f12bbd57a21c4eef8bd47b0d2c0e61e4

Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

Authors: Lahoud Touma, Marjorie Labrecque, Martine Tetreault, Antoine Duquette

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/6e50f1f900934a1696d0141ebe30f70e

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