Search Results - "Garneau, Alexandre P."

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications by Rioux, Alexis V., Bergeron, Nicolas AD, Riopel, Julie, Marcoux, Nicolas, Thériault, Catherine, Gould, Peter V., Garneau, Alexandre P., Isenring, Paul

“…RMND1 has been identified as a mitochondriopathy-associated gene less than 12 years ago. The most common phenotype related to this gene is an early onset,…”
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Molecular mechanisms, physiological roles, and therapeutic implications of ion fluxes in bone cells: Emphasis on the cation‐Cl− cotransporters by Garneau, Alexandre P., Slimani, Samira, Haydock, Ludwig, Nsimba‐Batomene, Thy‐René, Préfontaine, Florence C.M., Lavoie, Mathilde M., Tremblay, Laurence E., Fiola, Marie‐Jeanne, Mac‐Way, Fabrice, Isenring, Paul

“…Bone turnover diseases are exceptionally prevalent in human and come with a high burden on physical health. While these diseases are associated with a variety…”
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Extreme Hyponatremia Complicated by Osmotic Demyelination in a Previously Healthy Young Individual by Quigley, Nicholas, Garneau, Alexandre P., Haydock, Ludwig, Isenring, Paul

“…Rationale: Severe hyponatremia can lead to dramatic complications whether it is treated or not. At times, it may be very severe (serum Na concentration: NaS <…”
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Aquaporins Mediate Silicon Transport in Humans by Garneau, Alexandre P, Carpentier, Gabriel A, Marcoux, Andrée-Anne, Frenette-Cotton, Rachelle, Simard, Charles F, Rémus-Borel, Wilfried, Caron, Luc, Jacob-Wagner, Mariève, Noël, Micheline, Powell, Jonathan J, Bélanger, Richard, Côté, François, Isenring, Paul

“…In animals, silicon is an abundant and differentially distributed trace element that is believed to play important biological functions. One would thus expect…”
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Progressive renal failure complicated by transient and recurrent ureteral obstruction by Garneau, Alexandre P., MSc, de Cotret, Paul René, MD, Isenring, Paul, MD PhD, Tesolin, Maude, MD

“…Garneau et al cite that Canadians are healthier than ever before, but there are still large gaps between what we know to be high-quality health care and the…”
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Ablation of Potassium-Chloride Cotransporter Type 3 (Kcc3) in Mouse Causes Multiple Cardiovascular Defects and Isosmotic Polyuria by Garneau, Alexandre P, Marcoux, Andrée-Anne, Noël, Micheline, Frenette-Cotton, Rachelle, Drolet, Marie-Claude, Couet, Jacques, Larivière, Richard, Isenring, Paul

“…Inactivation of Kcc3 in a mixed 129/Sv×C57BL/6 mouse background has been previously found to increase systemic blood pressure (BP) through presumed neurogenic…”
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Acute Methotrexate-Induced Crystal Nephropathy by Garneau, Alexandre P, Riopel, Julie, Isenring, Paul

“…Methotrexate-induced nephrotoxicity is not uncommon, although intrarenal methotrexate crystals have been elusive. This case shows methotrexate crystals…”
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Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America by Garneau, Alexandre P., Haydock, Ludwig, Tremblay, Laurence E., Isenring, Paul

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The structure of Na+-K+-Cl− cotransporter 1 by Garneau, Alexandre P., Isenring, Paul

“…A recent study reports the first high-resolution, cryo-electron microscopy-based structure of zebrafish Na + -K + -Cl − cotransporter 1 (NKCC1). This structure…”
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X-linked Alport syndrome presenting in mother and son with the same unique histopathological features by Bergeron, Nicolas A. D., Garneau, Alexandre P., Rousseau-Gagnon, Mathieu, Riopel, Julie, Isenring, Paul

“…Alport syndrome has been linked to three different genes, that is, COL4A3 , COL4A4 and COL4A5 . It is characterized by progressive and non-specific…”
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Regulation of Na + -K + -Cl - cotransporter type 2 by the with no lysine kinase-dependent signaling pathway by Marcoux, Andrée-Anne, Slimani, Samira, Tremblay, Laurence E, Frenette-Cotton, Rachelle, Garneau, Alexandre P, Isenring, Paul

“…Na -K -Cl cotransporter type 2 (NKCC2) is confined to the apical membrane of the thick ascending limb of Henle, where it reabsorbs a substantial fraction of…”
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Shedding a new light on Huntington’s disease: how blood can both propagate and ameliorate disease pathology by Rieux, Marie, Alpaugh, Melanie, Sciacca, Giacomo, Saint-Pierre, Martine, Masnata, Maria, Denis, Hélèna L., Lévesque, Sébastien A., Herrmann, Frank, Bazenet, Chantal, Garneau, Alexandre P., Isenring, Paul, Truant, Ray, Oueslati, Abid, Gould, Peter V., Ast, Anne, Wanker, Erich E., Lacroix, Steve, Cicchetti, Francesca

“…Huntington’s disease (HD) is a monogenic neurodegenerative disorder resulting from a mutation in the huntingtin gene. This leads to the expression of the…”
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Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy by Haydock, Ludwig, Garneau, Alexandre P., Tremblay, Laurence, Yen, Hai-Yun, Gao, Hanlin, Harrisson, Raphaël, Isenring, Paul

“…Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) have been linked to mutations in many of the proteins that are involved in alternative…”
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A "double hit" model of cystic kidney disease by Marcoux, Andrée-Anne, Garneau, Alexandre P, Isenring, Paul

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Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options? by Garneau, Alexandre P., Haydock, Ludwig, Tremblay, Laurence E., Harvey-Michaud, Pierre-Luc, Hsiao, Yun-Hua Esther, Strom, Samuel P., Canaud, Guillaume, Isenring, Paul

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Molecular characteristics and physiological roles of Na+–K+–Cl− cotransporter 2 by Marcoux, Andree‐Anne, Tremblay, Laurence E., Slimani, Samira, Fiola, Marie‐Jeanne, Mac‐Way, Fabrice, Garneau, Alexandre P., Isenring, Paul

“…Na+–K+–Cl− cotransporter 2 (NKCC2; SLC12A1) is an integral membrane protein that comes as three splice variants and mediates the cotranslocation of Na+, K+,…”
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Phospho‐regulation, nucleotide binding and ion access control in potassium‐chloride cotransporters by Chi, Gamma, Ebenhoch, Rebecca, Man, Henry, Tang, Haiping, Tremblay, Laurence E, Reggiano, Gabriella, Qiu, Xingyu, Bohstedt, Tina, Liko, Idlir, Almeida, Fernando G, Garneau, Alexandre P, Wang, Dong, McKinley, Gavin, Moreau, Christophe P, Bountra, Kiran D, Abrusci, Patrizia, Mukhopadhyay, Shubhashish M M, Fernandez‐Cid, Alejandra, Slimani, Samira, Lavoie, Julie L, Burgess‐Brown, Nicola A, Tehan, Ben, DiMaio, Frank, Jazayeri, Ali, Isenring, Paul, Robinson, Carol V, Dürr, Katharina L

“…Potassium‐coupled chloride transporters (KCCs) play crucial roles in regulating cell volume and intracellular chloride concentration. They are…”
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Endocytic recycling of Na+–K+–Cl− cotransporter type 2: importance of exon 4 by Marcoux, Andrée‐Anne, Slimani, Samira, Tremblay, Laurence E., Frenette‐Cotton, Rachelle, Garneau, Alexandre P., Isenring, Paul

“…Key points Na+–K+–Cl− cotransporter type 2 (NKCC2) is a 27‐exon membrane protein that is expressed in the thick ascending limb (TAL) of Henle where it is…”
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Phosphoregulation of K+‐Cl− cotransporters during cell swelling: Novel insights by Frenette‐Cotton, Rachelle, Marcoux, Andrée‐Anne, Garneau, Alexandre P., Noel, Micheline, Isenring, Paul

“…The K+‐Cl− cotransporters (KCCs) belong to the cation‐Cl− cotransporter family and consist of four isoforms and many splice variants. Their main role is to…”
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Correction: Shedding a new light on Huntington’s disease: how blood can both propagate and ameliorate disease pathology by Rieux, Marie, Alpaugh, Melanie, Sciacca, Giacomo, Saint-Pierre, Martine, Masnata, Maria, Denis, Hélèna L., Lévesque, Sébastien A., Herrmann, Frank, Bazenet, Chantal, Garneau, Alexandre P., Isenring, Paul, Truant, Ray, Oueslati, Abid, Gould, Peter V., Ast, Anne, Wanker, Erich E., Lacroix, Steve, Cicchetti, Francesca

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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