Zobrazeno 1 - 10
of 247
pro vyhledávání: '"Patrick A Dion"'
Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.
Autor:
Yoshitaka Tamaki, Jay P Ross, Paria Alipour, Charles-Étienne Castonguay, Boting Li, Helene Catoire, Daniel Rochefort, Makoto Urushitani, Ryosuke Takahashi, Joshua A Sonnen, Stefano Stifani, Patrick A Dion, Guy A Rouleau
Publikováno v:
PLoS Genetics, Vol 19, Iss 2, p e1010606 (2023)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by progressive loss of motor neurons and there is currently no effective therapy. Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein 43 kDa (TDP-43)
Externí odkaz:
https://doaj.org/article/95522895ecef4007a675cea94277e3f9
Autor:
Faezeh Sarayloo, Alexandre Dionne-Laporte, Helene Catoire, Daniel Rochefort, Gabrielle Houle, Jay P Ross, Fulya Akçimen, Rachel De Barros Oliveira, Gustavo Turecki, Patrick A Dion, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 14, Iss 11, p e0225186 (2019)
Restless legs syndrome is a common complex disorder with different genetic and environmental risk factors. Here we used human cell lines to conduct an RNA-Seq study and observed how the gene showing the most significant association with RLS, MEIS1, a
Externí odkaz:
https://doaj.org/article/c09c9e6260a54b268d5adb635aca985a
Autor:
Simon L Girard, Cynthia V Bourassa, Louis-Philippe Lemieux Perreault, Marc-André Legault, Amina Barhdadi, Amirthagowri Ambalavanan, Mara Brendgen, Frank Vitaro, Anne Noreau, Ginette Dionne, Richard E Tremblay, Patrick A Dion, Michel Boivin, Marie-Pierre Dubé, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0164212 (2016)
De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observatio
Externí odkaz:
https://doaj.org/article/05ab7a88bf8c483d8065d32bee30e9de
Autor:
Sirui Zhou, Lan Xiong, Pingxing Xie, Amirthagowri Ambalavanan, Cynthia V Bourassa, Alexandre Dionne-Laporte, Dan Spiegelman, Maude Turcotte Gauthier, Edouard Henrion, Ousmane Diallo, Patrick A Dion, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0128255 (2015)
Nunavik Inuit (northern Quebec, Canada) reside along the arctic coastline where for generations their daily energy intake has mainly been derived from animal fat. Given this particular diet it has been hypothesized that natural selection would lead t
Externí odkaz:
https://doaj.org/article/f32cb1f5473e4cedab88d55070cb095a
Autor:
Simon L Girard, Patrick A Dion, Cynthia V Bourassa, Steve Geoffroy, Pamela Lachance-Touchette, Amina Barhdadi, Mathieu Langlois, Ridha Joober, Marie-Odile Krebs, Marie-Pierre Dubé, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0128988 (2015)
Schizophrenia (SCZ) is a very heterogeneous disease that affects approximately 1% of the general population. Recently, the genetic complexity thought to underlie this condition was further supported by three independent studies that identified an inc
Externí odkaz:
https://doaj.org/article/85992b39119a4b2283da340546f87ad6
Autor:
Masoud Shekarabi, Ron G Lafrenière, Rébecca Gaudet, Janet Laganière, Martin M Marcinkiewicz, Patrick A Dion, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e57807 (2013)
The With No lysine (K) family of serine/threonine kinase (WNK) defines a small family of kinases with significant roles in ion homeostasis. WNK1 has been shown to have different isoforms due to what seems to be largely tissue specific splicing. Here,
Externí odkaz:
https://doaj.org/article/885bbc708d634397a12f2da5f8125f96
Autor:
Valérie Bercier, Edna Brustein, Meijiang Liao, Patrick A Dion, Ronald G Lafrenière, Guy A Rouleau, Pierre Drapeau
Publikováno v:
PLoS Genetics, Vol 9, Iss 1, p e1003124 (2013)
Hereditary sensory and autonomic neuropathy type 2 (HSNAII) is a rare pathology characterized by an early onset of severe sensory loss (all modalities) in the distal limbs. It is due to autosomal recessive mutations confined to exon "HSN2" of the WNK
Externí odkaz:
https://doaj.org/article/0ef2f1dc7bc44df2a7ef9705ea8cf6e2
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83450 (2013)
An expansion of the hexanucleotide GGGGCC repeat in the first intron of C9ORF72 gene was recently linked to amyotrophic lateral sclerosis. It is not known if the mutation results in a gain of function, a loss of function or if, perhaps both mechanism
Externí odkaz:
https://doaj.org/article/af36c107a2a549d085f1e2395801d139
Autor:
Adèle Salin-Cantegrel, Masoud Shekarabi, Sarah Rasheed, François M Charron, Janet Laganière, Rebecca Gaudet, Patrick A Dion, Jean-Yves Lapointe, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e65294 (2013)
Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commiss
Externí odkaz:
https://doaj.org/article/012cd131a3c2445d8d1c2c41e27c7944
Autor:
Cynthia V Bourassa, Jean-Baptiste Rivière, Patrick A Dion, Geneviève Bernard, Sabrina Diab, Michel Panisset, Sylvain Chouinard, Nicolas Dupré, Hélène Fournier, John Raelson, Majid Belouchi, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16254 (2011)
Essential tremor (ET) is a complex genetic disorder for which no causative gene has been found. Recently, a genome-wide association study reported that two variants in the LINGO1 locus were associated to this disease. The aim of the present study was
Externí odkaz:
https://doaj.org/article/4bc29343cc0b4aab9350dd534097d709